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Welcome to the Mutalyzer mailing list, a general discussion list for the Mutalyzer HGVS variant nomenclature checker.

Your question may have been answered already. Before asking, please search the group archive and/or consult related sources of information:

Our Frequently Asked Questions page.
The Mutalyzer documentation index.
The Mutalyzer source code at GitHub.
The HGVS nomenclature for the description of sequence variants.

To post to this group by email, send you message to mutalyzer@googlegroups.com.

Bugs and concrete feature requests may also be filed directly in the GitHub issue tracker.

Consider subscribing to the Mutalyzer Announcements mailing list if you are a regular user of the Mutalyzer webservices or are maintaining your own Mutalyzer installation.

If you have a private question or a security related issue to discuss, please use the private address info@mutalyzer.nl.

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DDori...@outlook.com2

Jul 8

Brilliance Catalog Aluminum Profile for Custom Sun Control Shades

Dear friend, How have you been these days? This is Doris from Brilliance Group. We are a manufacturer

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Brilliance Catalog Aluminum Profile for Custom Sun Control Shades

Dear friend, How have you been these days? This is Doris from Brilliance Group. We are a manufacturer

Jul 8

David Atlan, Mihai Lefter5

11/4/22

Mutalyzer 3.0 API

Dear Mihai, thanks for the view_variants endpoint, it works for one of our use cases, namely calling

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Mutalyzer 3.0 API

Dear Mihai, thanks for the view_variants endpoint, it works for one of our use cases, namely calling

11/4/22

Linoy Tsaban, … J.F.J. Laros3

11/4/22

batch analysis with mutalyzer 3

Dear Judson, Linoy, There is a Batch Processor [1] available for Mutalyzer 3. I hope this helps. With

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batch analysis with mutalyzer 3

Dear Judson, Linoy, There is a Batch Processor [1] available for Mutalyzer 3. I hope this helps. With

11/4/22

10/17/22

Upgrade to Mutalyzer 3

Dear Mutalyzer users, On Thursday, October 20, between 10:00 - 16:00 (CEST), Mutalyzer will be

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Upgrade to Mutalyzer 3

Dear Mutalyzer users, On Thursday, October 20, between 10:00 - 16:00 (CEST), Mutalyzer will be

10/17/22

Qin Zixin, Mihai Lefter7

9/12/22

batch variant validation by Name Check

Dear Zixin, Please perform the steps mentioned in my first reply for all the variants because there

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batch variant validation by Name Check

Dear Zixin, Please perform the steps mentioned in my first reply for all the variants because there

9/12/22

Thiel, Christian, Mihai Lefter2

8/22/22

wrong annotation

Dear Christian Thiel, Thank you for using Mutalyzer. The issue that you mention is related to the

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wrong annotation

Dear Christian Thiel, Thank you for using Mutalyzer. The issue that you mention is related to the

8/22/22

Gordon Blackshields, J.F.J. Laros2

7/22/22

frameshift enquiry

Dear Gordon, Thank you for using Mutalyzer. Indeed Mutalyzer 3 can not check protein variant

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frameshift enquiry

Dear Gordon, Thank you for using Mutalyzer. Indeed Mutalyzer 3 can not check protein variant

7/22/22

Alistair Ward, J.F.J. Laros5

6/14/22

Constructing a curl command

Dear Alistair Ward, If I understand your question correctly, you want to find HGVS coding, RNA and

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Constructing a curl command

Dear Alistair Ward, If I understand your question correctly, you want to find HGVS coding, RNA and

6/14/22

Sriram Vaidyanathan, … J.F.J. Laros6

5/16/22

Variant nomenclature in CFTR

Dear Sriram, The chromosomal reference file on the Mutalyzer 2 server is out of date. On one hand

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Variant nomenclature in CFTR

Dear Sriram, The chromosomal reference file on the Mutalyzer 2 server is out of date. On one hand

5/16/22

Lai, Abbe, J.F.J. Laros2

3/21/22

Error for intronic variants in mutalyzer

Dear Abbe Lai, Thank you for using Mutalyzer. It is not possible to describe intronic variants using

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Error for intronic variants in mutalyzer

Dear Abbe Lai, Thank you for using Mutalyzer. It is not possible to describe intronic variants using

3/21/22

2/7/22

Maintenance (February 7, 2022)

Dear all, The maintenance work has been finished and Mutalyzer is up and running again. Please let us

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Maintenance (February 7, 2022)

Dear all, The maintenance work has been finished and Mutalyzer is up and running again. Please let us

2/7/22

Eva Tosco-Herrera, J.F.J. Laros2

11/9/21

Variant nomenclature query

Dear Eva Tosco-Herrera, Thank you for using Mutalyzer. The correct descriptions for these variants

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Variant nomenclature query

Dear Eva Tosco-Herrera, Thank you for using Mutalyzer. The correct descriptions for these variants

11/9/21

A. Kemal TOPALOĞLU, J.F.J. Laros2

11/3/21

Two variants in cis

Dear A. Kemal Topaloglu, Thank you for using Mutalyzer. Can you please specify which errors you get?

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Two variants in cis

Dear A. Kemal Topaloglu, Thank you for using Mutalyzer. Can you please specify which errors you get?

11/3/21

Suma Shankar, J.F.J. Laros3

11/2/21

Got it- thanks for your reply! Much appreciate your help. Thanks, Suma CONFIDENTIALITY NOTICE: This

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Got it- thanks for your reply! Much appreciate your help. Thanks, Suma CONFIDENTIALITY NOTICE: This

11/2/21

Kimberly Coetzer, J.F.J. Laros2

10/23/21

Warning-splice site variants

Dear Kimberly, A warning indeed merely indicates that caution is advised when interpreting the effect

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Warning-splice site variants

Dear Kimberly, A warning indeed merely indicates that caution is advised when interpreting the effect

10/23/21

Rong Zhou, Jeroen Laros2

10/19/21

Asking for help!

Dear Rong Zhou, Thank you for using Mutalyzer. If there is only one variant, the statement that this

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Asking for help!

Dear Rong Zhou, Thank you for using Mutalyzer. If there is only one variant, the statement that this

10/19/21

王四华, Mihai Lefter2

10/18/21

install mutalyzer

Hello, For installation purposes please check the following link: https://mutalyzer.readthedocs.io/en

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install mutalyzer

Hello, For installation purposes please check the following link: https://mutalyzer.readthedocs.io/en

10/18/21

alessandro liquori, J.F.J. Laros2

9/17/21

Variant genomic flanking regions - batch analysis

Dear Alessandro, There are no batch interfaces for this, but you can use the webservices. The

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Variant genomic flanking regions - batch analysis

Dear Alessandro, There are no batch interfaces for this, but you can use the webservices. The

9/17/21

Linoy Tsaban, … J.F.J. Laros7

8/6/21

Error when using submitBatchJob

Dear Winslow, Thank you for this additional information. It looks like your problems are not directly

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Error when using submitBatchJob

Dear Winslow, Thank you for this additional information. It looks like your problems are not directly

8/6/21

Laura M Amendola, J.F.J. Laros2

7/28/21

Problem with excel file for batch upload

Dear Laura, Thank you for using Mutalyzer. Excel files are supported in the current version of

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Problem with excel file for batch upload

Dear Laura, Thank you for using Mutalyzer. Excel files are supported in the current version of

7/28/21

Jae Ryu [AGTx], J.F.J. Laros2

7/22/21

[INQUIRY] Regarding Transcript NM_003494 versions

Dear Jae Ryu, The source of confusion is probably that "c." positions start counting from

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[INQUIRY] Regarding Transcript NM_003494 versions

Dear Jae Ryu, The source of confusion is probably that "c." positions start counting from

7/22/21

Chai Teng Chear, … Johan den Dunnen3

6/16/21

Variant nomenclature verification-Large deletion-insertion

Dear Chai Teng Chear, in addition to Jeroen's answer, based on current HGVS recommendations your

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Variant nomenclature verification-Large deletion-insertion

Dear Chai Teng Chear, in addition to Jeroen's answer, based on current HGVS recommendations your

6/16/21

Linoy Tsaban, Mihai Lefter2

5/27/21

Name checker batch jobs not progressing

Dear Linoy, Thanks for using Mutalyzer and for letting us know about this issue. At the moment the

unread,

Name checker batch jobs not progressing

Dear Linoy, Thanks for using Mutalyzer and for letting us know about this issue. At the moment the

5/27/21

Wang Daoqi, Jeroen Laros2

4/19/21

Validation of DNA sequence variants

Sure, just go to the website and submit the variant descriptions, eg, like this one. On Monday, 19

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Validation of DNA sequence variants

Sure, just go to the website and submit the variant descriptions, eg, like this one. On Monday, 19

4/19/21

姚娜娜, J.F.J. Laros2

4/15/21

Problems with Name Checker of Mutalyzer

Dear Yao Nana, Thank you for using Mutalyzer. I think this is an error in snpEff. There is probably a

unread,

Problems with Name Checker of Mutalyzer

Dear Yao Nana, Thank you for using Mutalyzer. I think this is an error in snpEff. There is probably a

4/15/21

Linoy Tsaban, Mihai Lefter2

3/15/21

bad gateway error when clicking https://mutalyzer.nl/services/?wsdl

Dear Linoy, Thanks for using Mutalyzer. Indeed, the problem is unrelated. The service has been

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bad gateway error when clicking https://mutalyzer.nl/services/?wsdl

Dear Linoy, Thanks for using Mutalyzer. Indeed, the problem is unrelated. The service has been

3/15/21

3/9/21

Transposable Element Insertions

Hi, I am required to validate my variants here for submission to a journal. However, there are

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Transposable Element Insertions

Hi, I am required to validate my variants here for submission to a journal. However, there are

3/9/21

Mayher Patel, Mihai Lefter2

2/3/21

Errors while checking batch type job for HGVS name checker

Dear Mayher, Thank you for using Mutalyzer. Warnings are usually given to inform users that care

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Errors while checking batch type job for HGVS name checker

Dear Mayher, Thank you for using Mutalyzer. Warnings are usually given to inform users that care

2/3/21

Matteson, Jamie@CDPH, J.F.J. Laros7

1/22/21

Help with error codes

I see. Thanks very much for all of your help. -Jamie -----Original Message----- From: JFJ Laros <

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Help with error codes

I see. Thanks very much for all of your help. -Jamie -----Original Message----- From: JFJ Laros <

1/22/21

Heiko Brennenstuhl, Mihai Lefter2

1/12/21

Finding the correct Refseq Version ID

Dear Heiko, Thank you for using Mutalyzer. There is no list available. However, you can make use of

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Finding the correct Refseq Version ID

Dear Heiko, Thank you for using Mutalyzer. There is no list available. However, you can make use of

1/12/21

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