Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129297637C>ACA1094384969LAMA2c.2857-48C>A (n.2857-48C>A)
c.3121-48C>A (n.3121-48C>A)
c.372-48C>A
c.3127-48C>A (n.3127-48C>A)
c.1252-48C>A (n.1252-48C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.129297637C=CA1663102206LAMA2c.2857-48C= (n.2857-48C=)
c.3121-48C= (n.3121-48C=)
c.372-48C=
c.3127-48C= (n.3127-48C=)
c.1252-48C= (n.1252-48C=)
6g.129297637C>GCA3993086LAMA2c.2857-48C>G (n.2857-48C>G)
c.3121-48C>G (n.3121-48C>G)
c.372-48C>G
c.3127-48C>G (n.3127-48C>G)
c.1252-48C>G (n.1252-48C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297637C>TCA3993085LAMA2c.2857-48C>T (n.2857-48C>T)
c.3121-48C>T (n.3121-48C>T)
c.372-48C>T
c.3127-48C>T (n.3127-48C>T)
c.1252-48C>T (n.1252-48C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297638G>ACA3993087LAMA2c.2857-47G>A (n.2857-47G>A)
c.3121-47G>A (n.3121-47G>A)
c.372-47G>A
c.3127-47G>A (n.3127-47G>A)
c.1252-47G>A (n.1252-47G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297638G>CCA818845522LAMA2c.2857-47G>C (n.2857-47G>C)
c.3121-47G>C (n.3121-47G>C)
c.372-47G>C
c.3127-47G>C (n.3127-47G>C)
c.1252-47G>C (n.1252-47G>C)
 dbSNP
6g.129297638G=CA1663102211LAMA2c.2857-47G= (n.2857-47G=)
c.3121-47G= (n.3121-47G=)
c.372-47G=
c.3127-47G= (n.3127-47G=)
c.1252-47G= (n.1252-47G=)
6g.129297638G>TCA570205589LAMA2c.2857-47G>T (n.2857-47G>T)
c.3121-47G>T (n.3121-47G>T)
c.372-47G>T
c.3127-47G>T (n.3127-47G>T)
c.1252-47G>T (n.1252-47G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129297639A>CCA2680313372LAMA2c.2857-46A>C (n.2857-46A>C)
c.3121-46A>C (n.3121-46A>C)
c.372-46A>C
c.3127-46A>C (n.3127-46A>C)
c.1252-46A>C (n.1252-46A>C)
 gnomAD v4
6g.129297639A>TCA2680313373LAMA2c.2857-46A>T (n.2857-46A>T)
c.3121-46A>T (n.3121-46A>T)
c.372-46A>T
c.3127-46A>T (n.3127-46A>T)
c.1252-46A>T (n.1252-46A>T)
 gnomAD v4
6g.129297641T>ACA2680313374LAMA2c.2857-44T>A (n.2857-44T>A)
c.3121-44T>A (n.3121-44T>A)
c.372-44T>A
c.3127-44T>A (n.3127-44T>A)
c.1252-44T>A (n.1252-44T>A)
 gnomAD v4
6g.129297642T>GCA2538906268LAMA2c.2857-43T>G (n.2857-43T>G)
c.3121-43T>G (n.3121-43T>G)
c.372-43T>G
c.3127-43T>G (n.3127-43T>G)
c.1252-43T>G (n.1252-43T>G)
6g.129297643A>GCA2680313375LAMA2c.2857-42A>G (n.2857-42A>G)
c.3121-42A>G (n.3121-42A>G)
c.372-42A>G
c.3127-42A>G (n.3127-42A>G)
c.1252-42A>G (n.1252-42A>G)
 gnomAD v4
6g.129297646T>ACA2581624443LAMA2c.2857-39T>A (n.2857-39T>A)
c.3121-39T>A (n.3121-39T>A)
c.372-39T>A
c.3127-39T>A (n.3127-39T>A)
c.1252-39T>A (n.1252-39T>A)
6g.129297646T>CCA3993088LAMA2c.2857-39T>C (n.2857-39T>C)
c.3121-39T>C (n.3121-39T>C)
c.372-39T>C
c.3127-39T>C (n.3127-39T>C)
c.1252-39T>C (n.1252-39T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297646T>GCA818845531LAMA2c.2857-39T>G (n.2857-39T>G)
c.3121-39T>G (n.3121-39T>G)
c.372-39T>G
c.3127-39T>G (n.3127-39T>G)
c.1252-39T>G (n.1252-39T>G)
 dbSNP gnomAD v3 gnomAD v4
6g.129297646T=CA1663102221LAMA2c.2857-39T= (n.2857-39T=)
c.3121-39T= (n.3121-39T=)
c.372-39T=
c.3127-39T= (n.3127-39T=)
c.1252-39T= (n.1252-39T=)
6g.129297647G=CA1663102223LAMA2c.2857-38G= (n.2857-38G=)
c.3121-38G= (n.3121-38G=)
c.372-38G=
c.3127-38G= (n.3127-38G=)
c.1252-38G= (n.1252-38G=)
6g.129297647G>TCA1663102224LAMA2c.2857-38G>T (n.2857-38G>T)
c.3121-38G>T (n.3121-38G>T)
c.372-38G>T
c.3127-38G>T (n.3127-38G>T)
c.1252-38G>T (n.1252-38G>T)
 dbSNP gnomAD v4
6g.129297652A>GCA2680313376LAMA2c.2857-33A>G (n.2857-33A>G)
c.3121-33A>G (n.3121-33A>G)
c.372-33A>G
c.3127-33A>G (n.3127-33A>G)
c.1252-33A>G (n.1252-33A>G)
 gnomAD v4
6g.129297657T>GCA2773034364LAMA2c.2857-28T>G (n.2857-28T>G)
c.3121-28T>G (n.3121-28T>G)
c.372-28T>G
c.3127-28T>G (n.3127-28T>G)
c.1252-28T>G (n.1252-28T>G)
6g.129297658A=CA1663102227LAMA2c.2857-27A= (n.2857-27A=)
c.3121-27A= (n.3121-27A=)
c.372-27A=
c.3127-27A= (n.3127-27A=)
c.1252-27A= (n.1252-27A=)
6g.129297658A>GCA570205590LAMA2c.2857-27A>G (n.2857-27A>G)
c.3121-27A>G (n.3121-27A>G)
c.372-27A>G
c.3127-27A>G (n.3127-27A>G)
c.1252-27A>G (n.1252-27A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.129297659A>GCA2680313377LAMA2c.2857-26A>G (n.2857-26A>G)
c.3121-26A>G (n.3121-26A>G)
c.372-26A>G
c.3127-26A>G (n.3127-26A>G)
c.1252-26A>G (n.1252-26A>G)
 gnomAD v4
6g.129297659_129297660delinsATCA1663102233LAMA2c.2857-26_2857-25delinsAT (n.2857-26_2857-25delinsAT)
c.3121-26_3121-25delinsAT (n.3121-26_3121-25delinsAT)
c.372-26_372-25delinsAT
c.3127-26_3127-25delinsAT (n.3127-26_3127-25delinsAT)
c.1252-26_1252-25delinsAT (n.1252-26_1252-25delinsAT)
6g.129297664dupCA1663102236LAMA2c.2857-21dup (n.2857-21dup)
c.3121-21dup (n.3121-21dup)
c.372-21dup
c.3127-21dup (n.3127-21dup)
c.1252-21dup (n.1252-21dup)
 dbSNP
6g.129297664delCA570205591LAMA2c.2857-21del (n.2857-21del)
c.3121-21del (n.3121-21del)
c.372-21del
c.3127-21del (n.3127-21del)
c.1252-21del (n.1252-21del)
 dbSNP gnomAD v2 gnomAD v4
6g.129297661T>ACA2680313378LAMA2c.2857-24T>A (n.2857-24T>A)
c.3121-24T>A (n.3121-24T>A)
c.372-24T>A
c.3127-24T>A (n.3127-24T>A)
c.1252-24T>A (n.1252-24T>A)
 gnomAD v4
6g.129297661T>CCA2680313379LAMA2c.2857-24T>C (n.2857-24T>C)
c.3121-24T>C (n.3121-24T>C)
c.372-24T>C
c.3127-24T>C (n.3127-24T>C)
c.1252-24T>C (n.1252-24T>C)
 gnomAD v4
6g.129297666T>ACA2680313380LAMA2c.2857-19T>A (n.2857-19T>A)
c.3121-19T>A (n.3121-19T>A)
c.372-19T>A
c.3127-19T>A (n.3127-19T>A)
c.1252-19T>A (n.1252-19T>A)
 gnomAD v4
6g.129297666T>CCA2580074940LAMA2c.2857-19T>C (n.2857-19T>C)
c.3121-19T>C (n.3121-19T>C)
c.372-19T>C
c.3127-19T>C (n.3127-19T>C)
c.1252-19T>C (n.1252-19T>C)
 ClinVar
6g.129297667C>ACA2572162069LAMA2c.2857-18C>A (n.2857-18C>A)
c.3121-18C>A (n.3121-18C>A)
c.372-18C>A
c.3127-18C>A (n.3127-18C>A)
c.1252-18C>A (n.1252-18C>A)
6g.129297667C=CA1663102238LAMA2c.2857-18C= (n.2857-18C=)
c.3121-18C= (n.3121-18C=)
c.372-18C=
c.3127-18C= (n.3127-18C=)
c.1252-18C= (n.1252-18C=)
6g.129297667C>TCA146900403LAMA2c.2857-18C>T (n.2857-18C>T)
c.3121-18C>T (n.3121-18C>T)
c.372-18C>T
c.3127-18C>T (n.3127-18C>T)
c.1252-18C>T (n.1252-18C>T)
 dbSNP
6g.129297668T>CCA2680313382LAMA2c.2857-17T>C (n.2857-17T>C)
c.3121-17T>C (n.3121-17T>C)
c.372-17T>C
c.3127-17T>C (n.3127-17T>C)
c.1252-17T>C (n.1252-17T>C)
 gnomAD v4
6g.129297668T>GCA2680313381LAMA2c.2857-17T>G (n.2857-17T>G)
c.3121-17T>G (n.3121-17T>G)
c.372-17T>G
c.3127-17T>G (n.3127-17T>G)
c.1252-17T>G (n.1252-17T>G)
 gnomAD v4
6g.129297669C=CA1663102241LAMA2c.2857-16C= (n.2857-16C=)
c.3121-16C= (n.3121-16C=)
c.372-16C=
c.3127-16C= (n.3127-16C=)
c.1252-16C= (n.1252-16C=)
6g.129297669C>TCA818845543LAMA2c.2857-16C>T (n.2857-16C>T)
c.3121-16C>T (n.3121-16C>T)
c.372-16C>T
c.3127-16C>T (n.3127-16C>T)
c.1252-16C>T (n.1252-16C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129297671T>ACA3993089LAMA2c.2857-14T>A (n.2857-14T>A)
c.3121-14T>A (n.3121-14T>A)
c.372-14T>A
c.3127-14T>A (n.3127-14T>A)
c.1252-14T>A (n.1252-14T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297671T>CCA3993090LAMA2c.2857-14T>C (n.2857-14T>C)
c.3121-14T>C (n.3121-14T>C)
c.372-14T>C
c.3127-14T>C (n.3127-14T>C)
c.1252-14T>C (n.1252-14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297671T=CA1663102247LAMA2c.2857-14T= (n.2857-14T=)
c.3121-14T= (n.3121-14T=)
c.372-14T=
c.3127-14T= (n.3127-14T=)
c.1252-14T= (n.1252-14T=)
6g.129297672C=CA1663102251LAMA2c.2857-13C= (n.2857-13C=)
c.3121-13C= (n.3121-13C=)
c.372-13C=
c.3127-13C= (n.3127-13C=)
c.1252-13C= (n.1252-13C=)
6g.129297672C>TCA3993091LAMA2c.2857-13C>T (n.2857-13C>T)
c.3121-13C>T (n.3121-13C>T)
c.372-13C>T
c.3127-13C>T (n.3127-13C>T)
c.1252-13C>T (n.1252-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297673T>CCA2680313383LAMA2c.2857-12T>C (n.2857-12T>C)
c.3121-12T>C (n.3121-12T>C)
c.372-12T>C
c.3127-12T>C (n.3127-12T>C)
c.1252-12T>C (n.1252-12T>C)
 gnomAD v4
6g.129297675C=CA1663102254LAMA2c.2857-10C= (n.2857-10C=)
c.3121-10C= (n.3121-10C=)
c.372-10C=
c.3127-10C= (n.3127-10C=)
c.1252-10C= (n.1252-10C=)
6g.129297675C>TCA146900436LAMA2c.2857-10C>T (n.2857-10C>T)
c.3121-10C>T (n.3121-10C>T)
c.372-10C>T
c.3127-10C>T (n.3127-10C>T)
c.1252-10C>T (n.1252-10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129297676C>ACA2578736998LAMA2c.2857-9C>A (n.2857-9C>A)
c.3121-9C>A (n.3121-9C>A)
c.372-9C>A
c.3127-9C>A (n.3127-9C>A)
c.1252-9C>A (n.1252-9C>A)
6g.129297676C>TCA2573140456LAMA2c.2857-9C>T (n.2857-9C>T)
c.3121-9C>T (n.3121-9C>T)
c.372-9C>T
c.3127-9C>T (n.3127-9C>T)
c.1252-9C>T (n.1252-9C>T)
 ClinVar dbSNP
6g.129297677A>GCA2680313384LAMA2c.2857-8A>G (n.2857-8A>G)
c.3121-8A>G (n.3121-8A>G)
c.372-8A>G
c.3127-8A>G (n.3127-8A>G)
c.1252-8A>G (n.1252-8A>G)
 gnomAD v4
6g.129297678T>CCA2680313385LAMA2c.2857-7T>C (n.2857-7T>C)
c.3121-7T>C (n.3121-7T>C)
c.372-7T>C
c.3127-7T>C (n.3127-7T>C)
c.1252-7T>C (n.1252-7T>C)
 gnomAD v4
6g.129297678T=CA1663102259LAMA2c.2857-7T= (n.2857-7T=)
c.3121-7T= (n.3121-7T=)
c.372-7T=
c.3127-7T= (n.3127-7T=)
c.1252-7T= (n.1252-7T=)
6g.129297679T>ACA2680313386LAMA2c.2857-6T>A (n.2857-6T>A)
c.3121-6T>A (n.3121-6T>A)
c.372-6T>A
c.3127-6T>A (n.3127-6T>A)
c.1252-6T>A (n.1252-6T>A)
 gnomAD v4
6g.129297679_129297680insACCTCA1663102264LAMA2c.2857-6_2857-5insACCT (n.2857-6_2857-5insACCT)
c.3121-6_3121-5insACCT (n.3121-6_3121-5insACCT)
c.372-6_372-5insACCT
c.3127-6_3127-5insACCT (n.3127-6_3127-5insACCT)
c.1252-6_1252-5insACCT (n.1252-6_1252-5insACCT)
 dbSNP
6g.129297680G>ACA570205592LAMA2c.2857-5G>A (n.2857-5G>A)
c.3121-5G>A (n.3121-5G>A)
c.372-5G>A
c.3127-5G>A (n.3127-5G>A)
c.1252-5G>A (n.1252-5G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.129297680G=CA1663102267LAMA2c.2857-5G= (n.2857-5G=)
c.3121-5G= (n.3121-5G=)
c.372-5G=
c.3127-5G= (n.3127-5G=)
c.1252-5G= (n.1252-5G=)
6g.129297680_129297681insTCA1663102288LAMA2c.2857-5_2857-4insT (n.2857-5_2857-4insT)
c.3121-5_3121-4insT (n.3121-5_3121-4insT)
c.372-5_372-4insT
c.3127-5_3127-4insT (n.3127-5_3127-4insT)
c.1252-5_1252-4insT (n.1252-5_1252-4insT)
 dbSNP
6g.129297681C>ACA2580074941LAMA2c.2857-4C>A (n.2857-4C>A)
c.3121-4C>A (n.3121-4C>A)
c.372-4C>A
c.3127-4C>A (n.3127-4C>A)
c.1252-4C>A (n.1252-4C>A)
 ClinVar
6g.129297681C>TCA2739266092LAMA2c.2857-4C>T (n.2857-4C>T)
c.3121-4C>T (n.3121-4C>T)
c.372-4C>T
c.3127-4C>T (n.3127-4C>T)
c.1252-4C>T (n.1252-4C>T)
 ClinVar
6g.129297682C>ACA2680313387LAMA2c.2857-3C>A (n.2857-3C>A)
c.3121-3C>A (n.3121-3C>A)
c.372-3C>A
c.3127-3C>A (n.3127-3C>A)
c.1252-3C>A (n.1252-3C>A)
 gnomAD v4
6g.129297682C>GCA2680313388LAMA2c.2857-3C>G (n.2857-3C>G)
c.3121-3C>G (n.3121-3C>G)
c.372-3C>G
c.3127-3C>G (n.3127-3C>G)
c.1252-3C>G (n.1252-3C>G)
 gnomAD v4
6g.129297683A=CA1663102289LAMA2c.2857-2A= (n.2857-2A=)
c.3121-2A= (n.3121-2A=)
c.372-2A=
c.3127-2A= (n.3127-2A=)
c.1252-2A= (n.1252-2A=)
6g.129297683A>CCA365610903LAMA2c.2857-2A>C (n.2857-2A>C)
c.3121-2A>C (n.3121-2A>C)
c.372-2A>C
c.3127-2A>C (n.3127-2A>C)
c.1252-2A>C (n.1252-2A>C)
6g.129297683A>GCA3993092LAMA2c.2857-2A>G (n.2857-2A>G)
c.3121-2A>G (n.3121-2A>G)
c.372-2A>G
c.3127-2A>G (n.3127-2A>G)
c.1252-2A>G (n.1252-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297683A>TCA365610904LAMA2c.2857-2A>T (n.2857-2A>T)
c.3121-2A>T (n.3121-2A>T)
c.372-2A>T
c.3127-2A>T (n.3127-2A>T)
c.1252-2A>T (n.1252-2A>T)
6g.129297684G>ACA365610905LAMA2c.2857-1G>A (n.2857-1G>A)
c.3121-1G>A (n.3121-1G>A)
c.372-1G>A
c.3127-1G>A (n.3127-1G>A)
c.1252-1G>A (n.1252-1G>A)
 ClinVar dbSNP
6g.129297684G>CCA365610906LAMA2c.2857-1G>C (n.2857-1G>C)
c.3121-1G>C (n.3121-1G>C)
c.372-1G>C
c.3127-1G>C (n.3127-1G>C)
c.1252-1G>C (n.1252-1G>C)
6g.129297684G>TCA365610907LAMA2c.2857-1G>T (n.2857-1G>T)
c.3121-1G>T (n.3121-1G>T)
c.372-1G>T
c.3127-1G>T (n.3127-1G>T)
c.1252-1G>T (n.1252-1G>T)
6g.129297685G>ACA365610909LAMA2c.2857G>A (p.Ala953Thr)
c.3121G>A (p.Ala1041Thr)
c.372G>A
c.3127G>A (p.Ala1043Thr)
c.1252G>A (p.Ala418Thr)
6g.129297685G>CCA3993093LAMA2c.2857G>C (p.Ala953Pro)
c.3121G>C (p.Ala1041Pro)
c.372G>C
c.3127G>C (p.Ala1043Pro)
c.1252G>C (p.Ala418Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297685G=CA1663102291LAMA2c.2857G= (p.Ala953=)
c.3121G= (p.Ala1041=)
c.372G=
c.3127G= (p.Ala1043=)
c.1252G= (p.Ala418=)
6g.129297685G>TCA365610908LAMA2c.2857G>T (p.Ala953Ser)
c.3121G>T (p.Ala1041Ser)
c.372G>T
c.3127G>T (p.Ala1043Ser)
c.1252G>T (p.Ala418Ser)
 dbSNP
6g.129297686C>ACA365610910LAMA2c.2858C>A (p.Ala953Asp)
c.3122C>A (p.Ala1041Asp)
c.373C>A
c.3128C>A (p.Ala1043Asp)
c.1253C>A (p.Ala418Asp)
6g.129297686C>GCA365610912LAMA2c.2858C>G (p.Ala953Gly)
c.3122C>G (p.Ala1041Gly)
c.373C>G
c.3128C>G (p.Ala1043Gly)
c.1253C>G (p.Ala418Gly)
6g.129297686C>TCA365610911LAMA2c.2858C>T (p.Ala953Val)
c.3122C>T (p.Ala1041Val)
c.373C>T
c.3128C>T (p.Ala1043Val)
c.1253C>T (p.Ala418Val)
6g.129297687T>ACA451936086LAMA2c.2859T>A (p.Ala953=)
c.3123T>A (p.Ala1041=)
c.374T>A
c.3129T>A (p.Ala1043=)
c.1254T>A (p.Ala418=)
 gnomAD v4
6g.129297687T>CCA451936087LAMA2c.2859T>C (p.Ala953=)
c.3123T>C (p.Ala1041=)
c.374T>C
c.3129T>C (p.Ala1043=)
c.1254T>C (p.Ala418=)
6g.129297687T>GCA451936088LAMA2c.2859T>G (p.Ala953=)
c.3123T>G (p.Ala1041=)
c.374T>G
c.3129T>G (p.Ala1043=)
c.1254T>G (p.Ala418=)
6g.129297687_129297690dupCA2739266093LAMA2c.2859_2862dup (p.Thr955TrpfsTer22)
c.3123_3126dup (p.Thr1043TrpfsTer22)
c.374_377dup
c.3129_3132dup (p.Thr1045TrpfsTer22)
c.1254_1257dup (p.Thr420TrpfsTer22)
 ClinVar
6g.129297688G>ACA3993094LAMA2c.2860G>A (p.Gly954Arg)
c.3124G>A (p.Gly1042Arg)
c.375G>A
c.3130G>A (p.Gly1044Arg)
c.1255G>A (p.Gly419Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297688G>CCA365610913LAMA2c.2860G>C (p.Gly954Arg)
c.3124G>C (p.Gly1042Arg)
c.375G>C
c.3130G>C (p.Gly1044Arg)
c.1255G>C (p.Gly419Arg)
6g.129297688G=CA1663102299LAMA2c.2860G= (p.Gly954=)
c.3124G= (p.Gly1042=)
c.375G=
c.3130G= (p.Gly1044=)
c.1255G= (p.Gly419=)
6g.129297688G>TCA365610914LAMA2c.2860G>T (p.Gly954Trp)
c.3124G>T (p.Gly1042Trp)
c.375G>T
c.3130G>T (p.Gly1044Trp)
c.1255G>T (p.Gly419Trp)
6g.129297689G>ACA365610915LAMA2c.2861G>A (p.Gly954Glu)
c.3125G>A (p.Gly1042Glu)
c.376G>A
c.3131G>A (p.Gly1044Glu)
c.1256G>A (p.Gly419Glu)
 dbSNP COSMIC
6g.129297689G>CCA365610916LAMA2c.2861G>C (p.Gly954Ala)
c.3125G>C (p.Gly1042Ala)
c.376G>C
c.3131G>C (p.Gly1044Ala)
c.1256G>C (p.Gly419Ala)
6g.129297689G=CA1663102303LAMA2c.2861G= (p.Gly954=)
c.3125G= (p.Gly1042=)
c.376G=
c.3131G= (p.Gly1044=)
c.1256G= (p.Gly419=)
6g.129297689G>TCA365610917LAMA2c.2861G>T (p.Gly954Val)
c.3125G>T (p.Gly1042Val)
c.376G>T
c.3131G>T (p.Gly1044Val)
c.1256G>T (p.Gly419Val)
 dbSNP gnomAD v2 gnomAD v4
6g.129297690G>ACA451936091LAMA2c.2862G>A (p.Gly954=)
c.3126G>A (p.Gly1042=)
c.377G>A
c.3132G>A (p.Gly1044=)
c.1257G>A (p.Gly419=)
 ClinVar gnomAD v4
6g.129297690G>CCA451936092LAMA2c.2862G>C (p.Gly954=)
c.3126G>C (p.Gly1042=)
c.377G>C
c.3132G>C (p.Gly1044=)
c.1257G>C (p.Gly419=)
6g.129297690G>TCA451936093LAMA2c.2862G>T (p.Gly954=)
c.3126G>T (p.Gly1042=)
c.377G>T
c.3132G>T (p.Gly1044=)
c.1257G>T (p.Gly419=)
6g.129297691_129297697delCA2580074943LAMA2c.2863_2869del (p.Thr955AlafsTer?)
c.3127_3133del (p.Thr1043AlafsTer?)
c.378_384del
c.3133_3139del (p.Thr1045AlafsTer?)
c.1258_1264del (p.Thr420AlafsTer?)
 ClinVar
6g.129297691A=CA1663102307LAMA2c.2863A= (p.Thr955=)
c.3127A= (p.Thr1043=)
c.378A=
c.3133A= (p.Thr1045=)
c.1258A= (p.Thr420=)
6g.129297691A>CCA365610918LAMA2c.2863A>C (p.Thr955Pro)
c.3127A>C (p.Thr1043Pro)
c.378A>C
c.3133A>C (p.Thr1045Pro)
c.1258A>C (p.Thr420Pro)
6g.129297691A>GCA3993095LAMA2c.2863A>G (p.Thr955Ala)
c.3127A>G (p.Thr1043Ala)
c.378A>G
c.3133A>G (p.Thr1045Ala)
c.1258A>G (p.Thr420Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297691A>TCA365610919LAMA2c.2863A>T (p.Thr955Ser)
c.3127A>T (p.Thr1043Ser)
c.378A>T
c.3133A>T (p.Thr1045Ser)
c.1258A>T (p.Thr420Ser)
6g.129297692C>ACA365610920LAMA2c.2864C>A (p.Thr955Asn)
c.3128C>A (p.Thr1043Asn)
c.379C>A
c.3134C>A (p.Thr1045Asn)
c.1259C>A (p.Thr420Asn)
6g.129297692C>GCA365610921LAMA2c.2864C>G (p.Thr955Ser)
c.3128C>G (p.Thr1043Ser)
c.379C>G
c.3134C>G (p.Thr1045Ser)
c.1259C>G (p.Thr420Ser)
6g.129297692C>TCA365610922LAMA2c.2864C>T (p.Thr955Ile)
c.3128C>T (p.Thr1043Ile)
c.379C>T
c.3134C>T (p.Thr1045Ile)
c.1259C>T (p.Thr420Ile)
6g.129297693C>ACA451936097LAMA2c.2865C>A (p.Thr955=)
c.3129C>A (p.Thr1043=)
c.380C>A
c.3135C>A (p.Thr1045=)
c.1260C>A (p.Thr420=)
6g.129297693C>GCA451936096LAMA2c.2865C>G (p.Thr955=)
c.3129C>G (p.Thr1043=)
c.380C>G
c.3135C>G (p.Thr1045=)
c.1260C>G (p.Thr420=)
6g.129297693C>TCA451936095LAMA2c.2865C>T (p.Thr955=)
c.3129C>T (p.Thr1043=)
c.380C>T
c.3135C>T (p.Thr1045=)
c.1260C>T (p.Thr420=)
 ClinVar dbSNP gnomAD v4
6g.129297694T>ACA365610925LAMA2c.2866T>A (p.Phe956Ile)
c.3130T>A (p.Phe1044Ile)
c.381T>A
c.3136T>A (p.Phe1046Ile)
c.1261T>A (p.Phe421Ile)
6g.129297694T>CCA365610923LAMA2c.2866T>C (p.Phe956Leu)
c.3130T>C (p.Phe1044Leu)
c.381T>C
c.3136T>C (p.Phe1046Leu)
c.1261T>C (p.Phe421Leu)
6g.129297694T>GCA365610924LAMA2c.2866T>G (p.Phe956Val)
c.3130T>G (p.Phe1044Val)
c.381T>G
c.3136T>G (p.Phe1046Val)
c.1261T>G (p.Phe421Val)
6g.129297695T>ACA365610926LAMA2c.2867T>A (p.Phe956Tyr)
c.3131T>A (p.Phe1044Tyr)
c.382T>A
c.3137T>A (p.Phe1046Tyr)
c.1262T>A (p.Phe421Tyr)
6g.129297695T>CCA365610927LAMA2c.2867T>C (p.Phe956Ser)
c.3131T>C (p.Phe1044Ser)
c.382T>C
c.3137T>C (p.Phe1046Ser)
c.1262T>C (p.Phe421Ser)
6g.129297695T>GCA365610928LAMA2c.2867T>G (p.Phe956Cys)
c.3131T>G (p.Phe1044Cys)
c.382T>G
c.3137T>G (p.Phe1046Cys)
c.1262T>G (p.Phe421Cys)
6g.129297696T>ACA365610929LAMA2c.2868T>A (p.Phe956Leu)
c.3132T>A (p.Phe1044Leu)
c.383T>A
c.3138T>A (p.Phe1046Leu)
c.1263T>A (p.Phe421Leu)
6g.129297696T>CCA451936098LAMA2c.2868T>C (p.Phe956=)
c.3132T>C (p.Phe1044=)
c.383T>C
c.3138T>C (p.Phe1046=)
c.1263T>C (p.Phe421=)
6g.129297696T>GCA365610930LAMA2c.2868T>G (p.Phe956Leu)
c.3132T>G (p.Phe1044Leu)
c.383T>G
c.3138T>G (p.Phe1046Leu)
c.1263T>G (p.Phe421Leu)
6g.129297697G>ACA365610931LAMA2c.2869G>A (p.Gly957Ser)
c.3133G>A (p.Gly1045Ser)
c.384G>A
c.3139G>A (p.Gly1047Ser)
c.1264G>A (p.Gly422Ser)
6g.129297697G>CCA365610932LAMA2c.2869G>C (p.Gly957Arg)
c.3133G>C (p.Gly1045Arg)
c.384G>C
c.3139G>C (p.Gly1047Arg)
c.1264G>C (p.Gly422Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.129297697G=CA1663102310LAMA2c.2869G= (p.Gly957=)
c.3133G= (p.Gly1045=)
c.384G=
c.3139G= (p.Gly1047=)
c.1264G= (p.Gly422=)
6g.129297697G>TCA365610933LAMA2c.2869G>T (p.Gly957Cys)
c.3133G>T (p.Gly1045Cys)
c.384G>T
c.3139G>T (p.Gly1047Cys)
c.1264G>T (p.Gly422Cys)
6g.129297698G>ACA365610934LAMA2c.2870G>A (p.Gly957Asp)
c.3134G>A (p.Gly1045Asp)
c.385G>A
c.3140G>A (p.Gly1047Asp)
c.1265G>A (p.Gly422Asp)
6g.129297698G>CCA365610935LAMA2c.2870G>C (p.Gly957Ala)
c.3134G>C (p.Gly1045Ala)
c.385G>C
c.3140G>C (p.Gly1047Ala)
c.1265G>C (p.Gly422Ala)
6g.129297698G>TCA365610936LAMA2c.2870G>T (p.Gly957Val)
c.3134G>T (p.Gly1045Val)
c.385G>T
c.3140G>T (p.Gly1047Val)
c.1265G>T (p.Gly422Val)
6g.129297699C>ACA451936101LAMA2c.2871C>A (p.Gly957=)
c.3135C>A (p.Gly1045=)
c.386C>A
c.3141C>A (p.Gly1047=)
c.1266C>A (p.Gly422=)
6g.129297699C>GCA451936102LAMA2c.2871C>G (p.Gly957=)
c.3135C>G (p.Gly1045=)
c.386C>G
c.3141C>G (p.Gly1047=)
c.1266C>G (p.Gly422=)
6g.129297699C>TCA451936103LAMA2c.2871C>T (p.Gly957=)
c.3135C>T (p.Gly1045=)
c.386C>T
c.3141C>T (p.Gly1047=)
c.1266C>T (p.Gly422=)
6g.129297700delCA2578736999LAMA2c.2872del (p.Leu958TyrfsTer?)
c.3136del (p.Leu1046TyrfsTer?)
c.387del
c.3142del (p.Leu1048TyrfsTer?)
c.1267del (p.Leu423TyrfsTer?)
6g.129297700C>ACA365610937LAMA2c.2872C>A (p.Leu958Ile)
c.3136C>A (p.Leu1046Ile)
c.387C>A
c.3142C>A (p.Leu1048Ile)
c.1267C>A (p.Leu423Ile)
6g.129297700C>GCA365610938LAMA2c.2872C>G (p.Leu958Val)
c.3136C>G (p.Leu1046Val)
c.387C>G
c.3142C>G (p.Leu1048Val)
c.1267C>G (p.Leu423Val)
6g.129297700C>TCA451936104LAMA2c.2872C>T (p.Leu958=)
c.3136C>T (p.Leu1046=)
c.387C>T
c.3142C>T (p.Leu1048=)
c.1267C>T (p.Leu423=)
6g.129297701T>ACA365610939LAMA2c.2873T>A (p.Leu958Gln)
c.3137T>A (p.Leu1046Gln)
c.388T>A
c.3143T>A (p.Leu1048Gln)
c.1268T>A (p.Leu423Gln)
6g.129297701T>CCA365610940LAMA2c.2873T>C (p.Leu958Pro)
c.3137T>C (p.Leu1046Pro)
c.388T>C
c.3143T>C (p.Leu1048Pro)
c.1268T>C (p.Leu423Pro)
6g.129297701T>GCA365610941LAMA2c.2873T>G (p.Leu958Arg)
c.3137T>G (p.Leu1046Arg)
c.388T>G
c.3143T>G (p.Leu1048Arg)
c.1268T>G (p.Leu423Arg)
6g.129297702A=CA1663102312LAMA2c.2874A= (p.Leu958=)
c.3138A= (p.Leu1046=)
c.389A=
c.3144A= (p.Leu1048=)
c.1269A= (p.Leu423=)
6g.129297702A>CCA451936105LAMA2c.2874A>C (p.Leu958=)
c.3138A>C (p.Leu1046=)
c.389A>C
c.3144A>C (p.Leu1048=)
c.1269A>C (p.Leu423=)
6g.129297702A>GCA3993096LAMA2c.2874A>G (p.Leu958=)
c.3138A>G (p.Leu1046=)
c.389A>G
c.3144A>G (p.Leu1048=)
c.1269A>G (p.Leu423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297702A>TCA451936106LAMA2c.2874A>T (p.Leu958=)
c.3138A>T (p.Leu1046=)
c.389A>T
c.3144A>T (p.Leu1048=)
c.1269A>T (p.Leu423=)
6g.129297703C>ACA365610942LAMA2c.2875C>A (p.Gln959Lys)
c.3139C>A (p.Gln1047Lys)
c.390C>A
c.3145C>A (p.Gln1049Lys)
c.1270C>A (p.Gln424Lys)
6g.129297703C>GCA365610943LAMA2c.2875C>G (p.Gln959Glu)
c.3139C>G (p.Gln1047Glu)
c.390C>G
c.3145C>G (p.Gln1049Glu)
c.1270C>G (p.Gln424Glu)
6g.129297703C>TCA365610944LAMA2c.2875C>T (p.Gln959Ter)
c.3139C>T (p.Gln1047Ter)
c.390C>T
c.3145C>T (p.Gln1049Ter)
c.1270C>T (p.Gln424Ter)
6g.129297704A=CA1663102314LAMA2c.2876A= (p.Gln959=)
c.3140A= (p.Gln1047=)
c.391A=
c.3146A= (p.Gln1049=)
c.1271A= (p.Gln424=)
6g.129297704A>CCA365610945LAMA2c.2876A>C (p.Gln959Pro)
c.3140A>C (p.Gln1047Pro)
c.391A>C
c.3146A>C (p.Gln1049Pro)
c.1271A>C (p.Gln424Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.129297704A>GCA365610946LAMA2c.2876A>G (p.Gln959Arg)
c.3140A>G (p.Gln1047Arg)
c.391A>G
c.3146A>G (p.Gln1049Arg)
c.1271A>G (p.Gln424Arg)
6g.129297704A>TCA365610947LAMA2c.2876A>T (p.Gln959Leu)
c.3140A>T (p.Gln1047Leu)
c.391A>T
c.3146A>T (p.Gln1049Leu)
c.1271A>T (p.Gln424Leu)
6g.129297705A=CA1663102319LAMA2c.2877A= (p.Gln959=)
c.3141A= (p.Gln1047=)
c.392A=
c.3147A= (p.Gln1049=)
c.1272A= (p.Gln424=)
6g.129297705A>CCA365610948LAMA2c.2877A>C (p.Gln959His)
c.3141A>C (p.Gln1047His)
c.392A>C
c.3147A>C (p.Gln1049His)
c.1272A>C (p.Gln424His)
6g.129297705A>GCA3993097LAMA2c.2877A>G (p.Gln959=)
c.3141A>G (p.Gln1047=)
c.392A>G
c.3147A>G (p.Gln1049=)
c.1272A>G (p.Gln424=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297705A>TCA365610949LAMA2c.2877A>T (p.Gln959His)
c.3141A>T (p.Gln1047His)
c.392A>T
c.3147A>T (p.Gln1049His)
c.1272A>T (p.Gln424His)
6g.129297705_129297706dupCA2580074944LAMA2c.2877_2878dup (p.Ser960TyrfsTer?)
c.3141_3142dup (p.Ser1048TyrfsTer?)
c.392_393dup
c.3147_3148dup (p.Ser1050TyrfsTer?)
c.1272_1273dup (p.Ser425TyrfsTer?)
 ClinVar
6g.129297706T>ACA365610952LAMA2c.2878T>A (p.Ser960Thr)
c.3142T>A (p.Ser1048Thr)
c.393T>A
c.3148T>A (p.Ser1050Thr)
c.1273T>A (p.Ser425Thr)
 gnomAD v4
6g.129297706T>CCA365610950LAMA2c.2878T>C (p.Ser960Pro)
c.3142T>C (p.Ser1048Pro)
c.393T>C
c.3148T>C (p.Ser1050Pro)
c.1273T>C (p.Ser425Pro)
 gnomAD v4
6g.129297706T>GCA365610951LAMA2c.2878T>G (p.Ser960Ala)
c.3142T>G (p.Ser1048Ala)
c.393T>G
c.3148T>G (p.Ser1050Ala)
c.1273T>G (p.Ser425Ala)
6g.129297707C>ACA365610953LAMA2c.2879C>A (p.Ser960Ter)
c.3143C>A (p.Ser1048Ter)
c.394C>A
c.3149C>A (p.Ser1050Ter)
c.1274C>A (p.Ser425Ter)
6g.129297707C=CA1663102323LAMA2c.2879C= (p.Ser960=)
c.3143C= (p.Ser1048=)
c.394C=
c.3149C= (p.Ser1050=)
c.1274C= (p.Ser425=)
6g.129297707C>GCA365610954LAMA2c.2879C>G (p.Ser960Ter)
c.3143C>G (p.Ser1048Ter)
c.394C>G
c.3149C>G (p.Ser1050Ter)
c.1274C>G (p.Ser425Ter)
 ClinVar
6g.129297707C>TCA365610955LAMA2c.2879C>T (p.Ser960Leu)
c.3143C>T (p.Ser1048Leu)
c.394C>T
c.3149C>T (p.Ser1050Leu)
c.1274C>T (p.Ser425Leu)
 dbSNP gnomAD v4
6g.129297708A=CA1663102329LAMA2c.2880A= (p.Ser960=)
c.3144A= (p.Ser1048=)
c.395A=
c.3150A= (p.Ser1050=)
c.1275A= (p.Ser425=)
6g.129297708A>CCA451936109LAMA2c.2880A>C (p.Ser960=)
c.3144A>C (p.Ser1048=)
c.395A>C
c.3150A>C (p.Ser1050=)
c.1275A>C (p.Ser425=)
6g.129297708A>GCA451936110LAMA2c.2880A>G (p.Ser960=)
c.3144A>G (p.Ser1048=)
c.395A>G
c.3150A>G (p.Ser1050=)
c.1275A>G (p.Ser425=)
 ClinVar dbSNP
6g.129297708A>TCA3993098LAMA2c.2880A>T (p.Ser960=)
c.3144A>T (p.Ser1048=)
c.395A>T
c.3150A>T (p.Ser1050=)
c.1275A>T (p.Ser425=)
 dbSNP ExAC gnomAD v2
6g.129297709G>ACA3993099LAMA2c.2881G>A (p.Ala961Thr)
c.3145G>A (p.Ala1049Thr)
c.396G>A
c.3151G>A (p.Ala1051Thr)
c.1276G>A (p.Ala426Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297709G>CCA365610956LAMA2c.2881G>C (p.Ala961Pro)
c.3145G>C (p.Ala1049Pro)
c.396G>C
c.3151G>C (p.Ala1051Pro)
c.1276G>C (p.Ala426Pro)
6g.129297709G=CA1663102334LAMA2c.2881G= (p.Ala961=)
c.3145G= (p.Ala1049=)
c.396G=
c.3151G= (p.Ala1051=)
c.1276G= (p.Ala426=)
6g.129297709G>TCA365610957LAMA2c.2881G>T (p.Ala961Ser)
c.3145G>T (p.Ala1049Ser)
c.396G>T
c.3151G>T (p.Ala1051Ser)
c.1276G>T (p.Ala426Ser)
6g.129297710C>ACA365610958LAMA2c.2882C>A (p.Ala961Glu)
c.3146C>A (p.Ala1049Glu)
c.397C>A
c.3152C>A (p.Ala1051Glu)
c.1277C>A (p.Ala426Glu)
 COSMIC
6g.129297710C>GCA365610959LAMA2c.2882C>G (p.Ala961Gly)
c.3146C>G (p.Ala1049Gly)
c.397C>G
c.3152C>G (p.Ala1051Gly)
c.1277C>G (p.Ala426Gly)
6g.129297710C>TCA365610960LAMA2c.2882C>T (p.Ala961Val)
c.3146C>T (p.Ala1049Val)
c.397C>T
c.3152C>T (p.Ala1051Val)
c.1277C>T (p.Ala426Val)
6g.129297711A=CA1663102337LAMA2c.2883A= (p.Ala961=)
c.3147A= (p.Ala1049=)
c.398A=
c.3153A= (p.Ala1051=)
c.1278A= (p.Ala426=)
6g.129297711A>CCA451936112LAMA2c.2883A>C (p.Ala961=)
c.3147A>C (p.Ala1049=)
c.398A>C
c.3153A>C (p.Ala1051=)
c.1278A>C (p.Ala426=)
6g.129297711A>GCA451936113LAMA2c.2883A>G (p.Ala961=)
c.3147A>G (p.Ala1049=)
c.398A>G
c.3153A>G (p.Ala1051=)
c.1278A>G (p.Ala426=)
 dbSNP gnomAD v2 gnomAD v4
6g.129297711A>TCA451936114LAMA2c.2883A>T (p.Ala961=)
c.3147A>T (p.Ala1049=)
c.398A>T
c.3153A>T (p.Ala1051=)
c.1278A>T (p.Ala426=)
6g.129297712A>CCA451936115LAMA2c.2884A>C (p.Arg962=)
c.3148A>C (p.Arg1050=)
c.399A>C
c.3154A>C (p.Arg1052=)
c.1279A>C (p.Arg427=)
6g.129297712A>GCA365610961LAMA2c.2884A>G (p.Arg962Gly)
c.3148A>G (p.Arg1050Gly)
c.399A>G
c.3154A>G (p.Arg1052Gly)
c.1279A>G (p.Arg427Gly)
 gnomAD v4
6g.129297712A>TCA365610962LAMA2c.2884A>T (p.Arg962Trp)
c.3148A>T (p.Arg1050Trp)
c.399A>T
c.3154A>T (p.Arg1052Trp)
c.1279A>T (p.Arg427Trp)
6g.129297713G>ACA3993100LAMA2c.2885G>A (p.Arg962Lys)
c.3149G>A (p.Arg1050Lys)
c.400G>A
c.3155G>A (p.Arg1052Lys)
c.1280G>A (p.Arg427Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297713G>CCA365610964LAMA2c.2885G>C (p.Arg962Thr)
c.3149G>C (p.Arg1050Thr)
c.400G>C
c.3155G>C (p.Arg1052Thr)
c.1280G>C (p.Arg427Thr)
 gnomAD v4
6g.129297713G=CA1663102346LAMA2c.2885G= (p.Arg962=)
c.3149G= (p.Arg1050=)
c.400G=
c.3155G= (p.Arg1052=)
c.1280G= (p.Arg427=)
6g.129297713G>TCA365610963LAMA2c.2885G>T (p.Arg962Met)
c.3149G>T (p.Arg1050Met)
c.400G>T
c.3155G>T (p.Arg1052Met)
c.1280G>T (p.Arg427Met)
6g.129297714G>ACA3993101LAMA2c.2886G>A (p.Arg962=)
c.3150G>A (p.Arg1050=)
c.401G>A
c.3156G>A (p.Arg1052=)
c.1281G>A (p.Arg427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129297714G>CCA365610965LAMA2c.2886G>C (p.Arg962Ser)
c.3150G>C (p.Arg1050Ser)
c.401G>C
c.3156G>C (p.Arg1052Ser)
c.1281G>C (p.Arg427Ser)
 dbSNP gnomAD v4
6g.129297714G=CA1663102353LAMA2c.2886G= (p.Arg962=)
c.3150G= (p.Arg1050=)
c.401G=
c.3156G= (p.Arg1052=)
c.1281G= (p.Arg427=)
6g.129297714G>TCA365610966LAMA2c.2886G>T (p.Arg962Ser)
c.3150G>T (p.Arg1050Ser)
c.401G>T
c.3156G>T (p.Arg1052Ser)
c.1281G>T (p.Arg427Ser)
6g.129297715G>ACA365610967LAMA2c.2887G>A (p.Gly963Ser)
c.3151G>A (p.Gly1051Ser)
c.402G>A
c.3157G>A (p.Gly1053Ser)
c.1282G>A (p.Gly428Ser)
 gnomAD v4 COSMIC
6g.129297715G>CCA365610968LAMA2c.2887G>C (p.Gly963Arg)
c.3151G>C (p.Gly1051Arg)
c.402G>C
c.3157G>C (p.Gly1053Arg)
c.1282G>C (p.Gly428Arg)
6g.129297715G>TCA365610969LAMA2c.2887G>T (p.Gly963Cys)
c.3151G>T (p.Gly1051Cys)
c.402G>T
c.3157G>T (p.Gly1053Cys)
c.1282G>T (p.Gly428Cys)
6g.129297716G>ACA3993103LAMA2c.2888G>A (p.Gly963Asp)
c.3152G>A (p.Gly1051Asp)
c.403G>A
c.3158G>A (p.Gly1053Asp)
c.1283G>A (p.Gly428Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.129297716G>CCA146900500LAMA2c.2888G>C (p.Gly963Ala)
c.3152G>C (p.Gly1051Ala)
c.403G>C
c.3158G>C (p.Gly1053Ala)
c.1283G>C (p.Gly428Ala)
 dbSNP gnomAD v4
6g.129297716G=CA1663102362LAMA2c.2888G= (p.Gly963=)
c.3152G= (p.Gly1051=)
c.403G=
c.3158G= (p.Gly1053=)
c.1283G= (p.Gly428=)
6g.129297716G>TCA3993102LAMA2c.2888G>T (p.Gly963Val)
c.3152G>T (p.Gly1051Val)
c.403G>T
c.3158G>T (p.Gly1053Val)
c.1283G>T (p.Gly428Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297717C>ACA451936117LAMA2c.2889C>A (p.Gly963=)
c.3153C>A (p.Gly1051=)
c.404C>A
c.3159C>A (p.Gly1053=)
c.1284C>A (p.Gly428=)
6g.129297717C>GCA451936118LAMA2c.2889C>G (p.Gly963=)
c.3153C>G (p.Gly1051=)
c.404C>G
c.3159C>G (p.Gly1053=)
c.1284C>G (p.Gly428=)
6g.129297717C>TCA451936119LAMA2c.2889C>T (p.Gly963=)
c.3153C>T (p.Gly1051=)
c.404C>T
c.3159C>T (p.Gly1053=)
c.1284C>T (p.Gly428=)
 ClinVar gnomAD v4 COSMIC
6g.129297718T>ACA365610970LAMA2c.2890T>A (p.Cys964Ser)
c.3154T>A (p.Cys1052Ser)
c.405T>A
c.3160T>A (p.Cys1054Ser)
c.1285T>A (p.Cys429Ser)
6g.129297718T>CCA365610971LAMA2c.2890T>C (p.Cys964Arg)
c.3154T>C (p.Cys1052Arg)
c.405T>C
c.3160T>C (p.Cys1054Arg)
c.1285T>C (p.Cys429Arg)
6g.129297718T>GCA365610972LAMA2c.2890T>G (p.Cys964Gly)
c.3154T>G (p.Cys1052Gly)
c.405T>G
c.3160T>G (p.Cys1054Gly)
c.1285T>G (p.Cys429Gly)
6g.129297719G>ACA365610973LAMA2c.2891G>A (p.Cys964Tyr)
c.3155G>A (p.Cys1052Tyr)
c.406G>A
c.3161G>A (p.Cys1054Tyr)
c.1286G>A (p.Cys429Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.129297719G>CCA365610974LAMA2c.2891G>C (p.Cys964Ser)
c.3155G>C (p.Cys1052Ser)
c.406G>C
c.3161G>C (p.Cys1054Ser)
c.1286G>C (p.Cys429Ser)
6g.129297719G=CA1663102365LAMA2c.2891G= (p.Cys964=)
c.3155G= (p.Cys1052=)
c.406G=
c.3161G= (p.Cys1054=)
c.1286G= (p.Cys429=)
6g.129297719G>TCA365610975LAMA2c.2891G>T (p.Cys964Phe)
c.3155G>T (p.Cys1052Phe)
c.406G>T
c.3161G>T (p.Cys1054Phe)
c.1286G>T (p.Cys429Phe)
6g.129297720T>ACA365610976LAMA2c.2892T>A (p.Cys964Ter)
c.3156T>A (p.Cys1052Ter)
c.407T>A
c.3162T>A (p.Cys1054Ter)
c.1287T>A (p.Cys429Ter)
6g.129297720T>CCA3993104LAMA2c.2892T>C (p.Cys964=)
c.3156T>C (p.Cys1052=)
c.407T>C
c.3162T>C (p.Cys1054=)
c.1287T>C (p.Cys429=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297720T>GCA365610977LAMA2c.2892T>G (p.Cys964Trp)
c.3156T>G (p.Cys1052Trp)
c.407T>G
c.3162T>G (p.Cys1054Trp)
c.1287T>G (p.Cys429Trp)
6g.129297720T=CA1663102368LAMA2c.2892T= (p.Cys964=)
c.3156T= (p.Cys1052=)
c.407T=
c.3162T= (p.Cys1054=)
c.1287T= (p.Cys429=)
6g.129297721G>ACA365610978LAMA2c.2893G>A (p.Val965Ile)
c.3157G>A (p.Val1053Ile)
c.408G>A
c.3163G>A (p.Val1055Ile)
c.1288G>A (p.Val430Ile)
6g.129297721G>CCA365610979LAMA2c.2893G>C (p.Val965Leu)
c.3157G>C (p.Val1053Leu)
c.408G>C
c.3163G>C (p.Val1055Leu)
c.1288G>C (p.Val430Leu)
6g.129297721G>TCA365610980LAMA2c.2893G>T (p.Val965Phe)
c.3157G>T (p.Val1053Phe)
c.408G>T
c.3163G>T (p.Val1055Phe)
c.1288G>T (p.Val430Phe)
6g.129297722T>ACA365610981LAMA2c.2894T>A (p.Val965Asp)
c.3158T>A (p.Val1053Asp)
c.409T>A
c.3164T>A (p.Val1055Asp)
c.1289T>A (p.Val430Asp)
6g.129297722T>CCA3993105LAMA2c.2894T>C (p.Val965Ala)
c.3158T>C (p.Val1053Ala)
c.409T>C
c.3164T>C (p.Val1055Ala)
c.1289T>C (p.Val430Ala)
 dbSNP ExAC gnomAD v2 COSMIC
6g.129297722T>GCA365610982LAMA2c.2894T>G (p.Val965Gly)
c.3158T>G (p.Val1053Gly)
c.409T>G
c.3164T>G (p.Val1055Gly)
c.1289T>G (p.Val430Gly)
6g.129297722T=CA1663102370LAMA2c.2894T= (p.Val965=)
c.3158T= (p.Val1053=)
c.409T=
c.3164T= (p.Val1055=)
c.1289T= (p.Val430=)
6g.129297723T>ACA451936120LAMA2c.2895T>A (p.Val965=)
c.3159T>A (p.Val1053=)
c.410T>A
c.3165T>A (p.Val1055=)
c.1290T>A (p.Val430=)
6g.129297723T>CCA451936121LAMA2c.2895T>C (p.Val965=)
c.3159T>C (p.Val1053=)
c.410T>C
c.3165T>C (p.Val1055=)
c.1290T>C (p.Val430=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129297723T>GCA451936122LAMA2c.2895T>G (p.Val965=)
c.3159T>G (p.Val1053=)
c.410T>G
c.3165T>G (p.Val1055=)
c.1290T>G (p.Val430=)
6g.129297723T=CA1663102372LAMA2c.2895T= (p.Val965=)
c.3159T= (p.Val1053=)
c.410T=
c.3165T= (p.Val1055=)
c.1290T= (p.Val430=)
6g.129297724C>ACA365610983LAMA2c.2896C>A (p.Pro966Thr)
c.3160C>A (p.Pro1054Thr)
c.411C>A
c.3166C>A (p.Pro1056Thr)
c.1291C>A (p.Pro431Thr)
6g.129297724C>GCA365610984LAMA2c.2896C>G (p.Pro966Ala)
c.3160C>G (p.Pro1054Ala)
c.411C>G
c.3166C>G (p.Pro1056Ala)
c.1291C>G (p.Pro431Ala)
 gnomAD v4
6g.129297724C>TCA365610985LAMA2c.2896C>T (p.Pro966Ser)
c.3160C>T (p.Pro1054Ser)
c.411C>T
c.3166C>T (p.Pro1056Ser)
c.1291C>T (p.Pro431Ser)
 gnomAD v4 COSMIC
6g.129297725C>ACA365610986LAMA2c.2897C>A (p.Pro966His)
c.3161C>A (p.Pro1054His)
c.412C>A
c.3167C>A (p.Pro1056His)
c.1292C>A (p.Pro431His)
6g.129297725C=CA1663102375LAMA2c.2897C= (p.Pro966=)
c.3161C= (p.Pro1054=)
c.412C=
c.3167C= (p.Pro1056=)
c.1292C= (p.Pro431=)
6g.129297725C>GCA365610987LAMA2c.2897C>G (p.Pro966Arg)
c.3161C>G (p.Pro1054Arg)
c.412C>G
c.3167C>G (p.Pro1056Arg)
c.1292C>G (p.Pro431Arg)
6g.129297725C>TCA3993106LAMA2c.2897C>T (p.Pro966Leu)
c.3161C>T (p.Pro1054Leu)
c.412C>T
c.3167C>T (p.Pro1056Leu)
c.1292C>T (p.Pro431Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129297726C>ACA451936123LAMA2c.2898C>A (p.Pro966=)
c.3162C>A (p.Pro1054=)
c.413C>A
c.3168C>A (p.Pro1056=)
c.1293C>A (p.Pro431=)
6g.129297726C>GCA451936125LAMA2c.2898C>G (p.Pro966=)
c.3162C>G (p.Pro1054=)
c.413C>G
c.3168C>G (p.Pro1056=)
c.1293C>G (p.Pro431=)
6g.129297726C>TCA451936124LAMA2c.2898C>T (p.Pro966=)
c.3162C>T (p.Pro1054=)
c.413C>T
c.3168C>T (p.Pro1056=)
c.1293C>T (p.Pro431=)
6g.129297727T>ACA365610990LAMA2c.2899T>A (p.Cys967Ser)
c.3163T>A (p.Cys1055Ser)
c.414T>A
c.3169T>A (p.Cys1057Ser)
c.1294T>A (p.Cys432Ser)
6g.129297727T>CCA365610988LAMA2c.2899T>C (p.Cys967Arg)
c.3163T>C (p.Cys1055Arg)
c.414T>C
c.3169T>C (p.Cys1057Arg)
c.1294T>C (p.Cys432Arg)
6g.129297727T>GCA365610989LAMA2c.2899T>G (p.Cys967Gly)
c.3163T>G (p.Cys1055Gly)
c.414T>G
c.3169T>G (p.Cys1057Gly)
c.1294T>G (p.Cys432Gly)
6g.129297728G>ACA365610991LAMA2c.2900G>A (p.Cys967Tyr)
c.3164G>A (p.Cys1055Tyr)
c.415G>A
c.3170G>A (p.Cys1057Tyr)
c.1295G>A (p.Cys432Tyr)
6g.129297728G>CCA365610992LAMA2c.2900G>C (p.Cys967Ser)
c.3164G>C (p.Cys1055Ser)
c.415G>C
c.3170G>C (p.Cys1057Ser)
c.1295G>C (p.Cys432Ser)
 gnomAD v4
6g.129297728G=CA1663102377LAMA2c.2900G= (p.Cys967=)
c.3164G= (p.Cys1055=)
c.415G=
c.3170G= (p.Cys1057=)
c.1295G= (p.Cys432=)
6g.129297728G>TCA365610993LAMA2c.2900G>T (p.Cys967Phe)
c.3164G>T (p.Cys1055Phe)
c.415G>T
c.3170G>T (p.Cys1057Phe)
c.1295G>T (p.Cys432Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.129297729C>ACA341325LAMA2c.2901C>A (p.Cys967Ter)
c.3165C>A (p.Cys1055Ter)
c.416C>A
c.3171C>A (p.Cys1057Ter)
c.1296C>A (p.Cys432Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297729C=CA1663102380LAMA2c.2901C= (p.Cys967=)
c.3165C= (p.Cys1055=)
c.416C=
c.3171C= (p.Cys1057=)
c.1296C= (p.Cys432=)
6g.129297729C>GCA365610994LAMA2c.2901C>G (p.Cys967Trp)
c.3165C>G (p.Cys1055Trp)
c.416C>G
c.3171C>G (p.Cys1057Trp)
c.1296C>G (p.Cys432Trp)
6g.129297729C>TCA451936126LAMA2c.2901C>T (p.Cys967=)
c.3165C>T (p.Cys1055=)
c.416C>T
c.3171C>T (p.Cys1057=)
c.1296C>T (p.Cys432=)
6g.129297730A>CCA365610995LAMA2c.2902A>C (p.Asn968His)
c.3166A>C (p.Asn1056His)
c.417A>C
c.3172A>C (p.Asn1058His)
c.1297A>C (p.Asn433His)
6g.129297730A>GCA365610996LAMA2c.2902A>G (p.Asn968Asp)
c.3166A>G (p.Asn1056Asp)
c.417A>G
c.3172A>G (p.Asn1058Asp)
c.1297A>G (p.Asn433Asp)
6g.129297730A>TCA365610997LAMA2c.2902A>T (p.Asn968Tyr)
c.3166A>T (p.Asn1056Tyr)
c.417A>T
c.3172A>T (p.Asn1058Tyr)
c.1297A>T (p.Asn433Tyr)
6g.129297731dupCA2680313389LAMA2c.2903dup (p.Asn968LysfsTer8)
c.3167dup (p.Asn1056LysfsTer8)
c.418dup
c.3173dup (p.Asn1058LysfsTer8)
c.1298dup (p.Asn433LysfsTer8)
 gnomAD v4
6g.129297731A>CCA365610998LAMA2c.2903A>C (p.Asn968Thr)
c.3167A>C (p.Asn1056Thr)
c.418A>C
c.3173A>C (p.Asn1058Thr)
c.1298A>C (p.Asn433Thr)
 gnomAD v4
6g.129297731A>GCA365610999LAMA2c.2903A>G (p.Asn968Ser)
c.3167A>G (p.Asn1056Ser)
c.418A>G
c.3173A>G (p.Asn1058Ser)
c.1298A>G (p.Asn433Ser)
6g.129297731A>TCA365611000LAMA2c.2903A>T (p.Asn968Ile)
c.3167A>T (p.Asn1056Ile)
c.418A>T
c.3173A>T (p.Asn1058Ile)
c.1298A>T (p.Asn433Ile)
6g.129297732C>ACA365611001LAMA2c.2904C>A (p.Asn968Lys)
c.3168C>A (p.Asn1056Lys)
c.419C>A
c.3174C>A (p.Asn1058Lys)
c.1299C>A (p.Asn433Lys)
 gnomAD v4
6g.129297732C>GCA365611002LAMA2c.2904C>G (p.Asn968Lys)
c.3168C>G (p.Asn1056Lys)
c.419C>G
c.3174C>G (p.Asn1058Lys)
c.1299C>G (p.Asn433Lys)
6g.129297732C>TCA451936127LAMA2c.2904C>T (p.Asn968=)
c.3168C>T (p.Asn1056=)
c.419C>T
c.3174C>T (p.Asn1058=)
c.1299C>T (p.Asn433=)
6g.129297733T>ACA3993107LAMA2c.2905T>A (p.Cys969Ser)
c.3169T>A (p.Cys1057Ser)
c.420T>A
c.3175T>A (p.Cys1059Ser)
c.1300T>A (p.Cys434Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129297733T>CCA365611003LAMA2c.2905T>C (p.Cys969Arg)
c.3169T>C (p.Cys1057Arg)
c.420T>C
c.3175T>C (p.Cys1059Arg)
c.1300T>C (p.Cys434Arg)
6g.129297733T>GCA146900580LAMA2c.2905T>G (p.Cys969Gly)
c.3169T>G (p.Cys1057Gly)
c.420T>G
c.3175T>G (p.Cys1059Gly)
c.1300T>G (p.Cys434Gly)
 dbSNP
6g.129297733T=CA1663102383LAMA2c.2905T= (p.Cys969=)
c.3169T= (p.Cys1057=)
c.420T=
c.3175T= (p.Cys1059=)
c.1300T= (p.Cys434=)
6g.129297734G>ACA365611004LAMA2c.2906G>A (p.Cys969Tyr)
c.3170G>A (p.Cys1057Tyr)
c.421G>A
c.3176G>A (p.Cys1059Tyr)
c.1301G>A (p.Cys434Tyr)
 ClinVar dbSNP
6g.129297734G>CCA365611005LAMA2c.2906G>C (p.Cys969Ser)
c.3170G>C (p.Cys1057Ser)
c.421G>C
c.3176G>C (p.Cys1059Ser)
c.1301G>C (p.Cys434Ser)
6g.129297734G>TCA365611006LAMA2c.2906G>T (p.Cys969Phe)
c.3170G>T (p.Cys1057Phe)
c.421G>T
c.3176G>T (p.Cys1059Phe)
c.1301G>T (p.Cys434Phe)
6g.129297735C>ACA365611007LAMA2c.2907C>A (p.Cys969Ter)
c.3171C>A (p.Cys1057Ter)
c.422C>A
c.3177C>A (p.Cys1059Ter)
c.1302C>A (p.Cys434Ter)
 ClinVar dbSNP
6g.129297735C=CA1663102393LAMA2c.2907C= (p.Cys969=)
c.3171C= (p.Cys1057=)
c.422C=
c.3177C= (p.Cys1059=)
c.1302C= (p.Cys434=)
6g.129297735C>GCA365611008LAMA2c.2907C>G (p.Cys969Trp)
c.3171C>G (p.Cys1057Trp)
c.422C>G
c.3177C>G (p.Cys1059Trp)
c.1302C>G (p.Cys434Trp)
6g.129297735C>TCA451936128LAMA2c.2907C>T (p.Cys969=)
c.3171C>T (p.Cys1057=)
c.422C>T
c.3177C>T (p.Cys1059=)
c.1302C>T (p.Cys434=)
6g.129297736A>CCA365611009LAMA2c.2908A>C (p.Asn970His)
c.3172A>C (p.Asn1058His)
c.423A>C
c.3178A>C (p.Asn1060His)
c.1303A>C (p.Asn435His)
6g.129297736A>GCA365611010LAMA2c.2908A>G (p.Asn970Asp)
c.3172A>G (p.Asn1058Asp)
c.423A>G
c.3178A>G (p.Asn1060Asp)
c.1303A>G (p.Asn435Asp)
6g.129297736A>TCA365611011LAMA2c.2908A>T (p.Asn970Tyr)
c.3172A>T (p.Asn1058Tyr)
c.423A>T
c.3178A>T (p.Asn1060Tyr)
c.1303A>T (p.Asn435Tyr)
6g.129297737A=CA1663102396LAMA2c.2909A= (p.Asn970=)
c.3173A= (p.Asn1058=)
c.424A=
c.3179A= (p.Asn1060=)
c.1304A= (p.Asn435=)
6g.129297737A>CCA365611012LAMA2c.2909A>C (p.Asn970Thr)
c.3173A>C (p.Asn1058Thr)
c.424A>C
c.3179A>C (p.Asn1060Thr)
c.1304A>C (p.Asn435Thr)
6g.129297737A>GCA365611013LAMA2c.2909A>G (p.Asn970Ser)
c.3173A>G (p.Asn1058Ser)
c.424A>G
c.3179A>G (p.Asn1060Ser)
c.1304A>G (p.Asn435Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129297737A>TCA146900582LAMA2c.2909A>T (p.Asn970Ile)
c.3173A>T (p.Asn1058Ile)
c.424A>T
c.3179A>T (p.Asn1060Ile)
c.1304A>T (p.Asn435Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched