Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129297639A>C | CA2680313372 | LAMA2 | c.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 |
6 | g.129297639A>T | CA2680313373 | LAMA2 | c.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 |
6 | g.129297641T>A | CA2680313374 | LAMA2 | c.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 |
6 | g.129297642T>G | CA2538906268 | LAMA2 | c.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) | |
6 | g.129297643A>G | CA2680313375 | LAMA2 | c.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 |
6 | g.129297646T>A | CA2581624443 | LAMA2 | c.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) | |
6 | g.129297646T>C | CA3993088 | LAMA2 | c.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 |
6 | g.129297646T>G | CA818845531 | LAMA2 | c.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 |
6 | g.129297646T= | CA1663102221 | LAMA2 | c.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=) | |
6 | g.129297647G= | CA1663102223 | LAMA2 | c.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=) | |
6 | g.129297647G>T | CA1663102224 | LAMA2 | c.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 |
6 | g.129297652A>G | CA2680313376 | LAMA2 | c.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 |
6 | g.129297657T>G | CA2773034364 | LAMA2 | c.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) | |
6 | g.129297658A= | CA1663102227 | LAMA2 | c.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=) | |
6 | g.129297658A>G | CA570205590 | LAMA2 | c.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 |
6 | g.129297659A>G | CA2680313377 | LAMA2 | c.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 |
6 | g.129297659_129297660delinsAT | CA1663102233 | LAMA2 | c.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) | |
6 | g.129297664dup | CA1663102236 | LAMA2 | c.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 |
6 | g.129297664del | CA570205591 | LAMA2 | c.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 |
6 | g.129297661T>A | CA2680313378 | LAMA2 | c.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 |
6 | g.129297661T>C | CA2680313379 | LAMA2 | c.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 |
6 | g.129297666T>A | CA2680313380 | LAMA2 | c.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 |
6 | g.129297666T>C | CA2580074940 | LAMA2 | c.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 |
6 | g.129297667C>A | CA2572162069 | LAMA2 | c.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) | |
6 | g.129297667C= | CA1663102238 | LAMA2 | c.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=) | |
6 | g.129297667C>T | CA146900403 | LAMA2 | c.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 |
6 | g.129297668T>C | CA2680313382 | LAMA2 | c.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 |
6 | g.129297668T>G | CA2680313381 | LAMA2 | c.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 |
6 | g.129297669C= | CA1663102241 | LAMA2 | c.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=) | |
6 | g.129297669C>T | CA818845543 | LAMA2 | c.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 |
6 | g.129297671T>A | CA3993089 | LAMA2 | c.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 |
6 | g.129297671T>C | CA3993090 | LAMA2 | c.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 |
6 | g.129297671T= | CA1663102247 | LAMA2 | c.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=) | |
6 | g.129297672C= | CA1663102251 | LAMA2 | c.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=) | |
6 | g.129297672C>T | CA3993091 | LAMA2 | c.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 |
6 | g.129297673T>C | CA2680313383 | LAMA2 | c.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 |
6 | g.129297675C= | CA1663102254 | LAMA2 | c.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=) | |
6 | g.129297675C>T | CA146900436 | LAMA2 | c.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 |
6 | g.129297676C>A | CA2578736998 | LAMA2 | c.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) | |
6 | g.129297676C>T | CA2573140456 | LAMA2 | c.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 |
6 | g.129297677A>G | CA2680313384 | LAMA2 | c.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 |
6 | g.129297678T>C | CA2680313385 | LAMA2 | c.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 |
6 | g.129297678T= | CA1663102259 | LAMA2 | c.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=) | |
6 | g.129297679T>A | CA2680313386 | LAMA2 | c.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 |
6 | g.129297679_129297680insACCT | CA1663102264 | LAMA2 | c.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 |
6 | g.129297680G>A | CA570205592 | LAMA2 | c.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 |
6 | g.129297680G= | CA1663102267 | LAMA2 | c.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=) | |
6 | g.129297680_129297681insT | CA1663102288 | LAMA2 | c.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 |
6 | g.129297681C>A | CA2580074941 | LAMA2 | c.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 |
6 | g.129297681C>T | CA2739266092 | LAMA2 | c.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 |
6 | g.129297682C>A | CA2680313387 | LAMA2 | c.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 |
6 | g.129297682C>G | CA2680313388 | LAMA2 | c.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 |
6 | g.129297683A= | CA1663102289 | LAMA2 | c.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=) | |
6 | g.129297683A>C | CA365610903 | LAMA2 | c.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) | |
6 | g.129297683A>G | CA3993092 | LAMA2 | c.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 |
6 | g.129297683A>T | CA365610904 | LAMA2 | c.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) | |
6 | g.129297684G>A | CA365610905 | LAMA2 | c.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 |
6 | g.129297684G>C | CA365610906 | LAMA2 | c.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) | |
6 | g.129297684G>T | CA365610907 | LAMA2 | c.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) | |
6 | g.129297685G>A | CA365610909 | LAMA2 | c.2857G>A (p.Ala953Thr) c.3121G>A (p.Ala1041Thr) c.372G>A c.3127G>A (p.Ala1043Thr) c.1252G>A (p.Ala418Thr) | |
6 | g.129297685G>C | CA3993093 | LAMA2 | c.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 |
6 | g.129297685G= | CA1663102291 | LAMA2 | c.2857G= (p.Ala953=) c.3121G= (p.Ala1041=) c.372G= c.3127G= (p.Ala1043=) c.1252G= (p.Ala418=) | |
6 | g.129297685G>T | CA365610908 | LAMA2 | c.2857G>T (p.Ala953Ser) c.3121G>T (p.Ala1041Ser) c.372G>T c.3127G>T (p.Ala1043Ser) c.1252G>T (p.Ala418Ser) | dbSNP |
6 | g.129297686C>A | CA365610910 | LAMA2 | c.2858C>A (p.Ala953Asp) c.3122C>A (p.Ala1041Asp) c.373C>A c.3128C>A (p.Ala1043Asp) c.1253C>A (p.Ala418Asp) | |
6 | g.129297686C>G | CA365610912 | LAMA2 | c.2858C>G (p.Ala953Gly) c.3122C>G (p.Ala1041Gly) c.373C>G c.3128C>G (p.Ala1043Gly) c.1253C>G (p.Ala418Gly) | |
6 | g.129297686C>T | CA365610911 | LAMA2 | c.2858C>T (p.Ala953Val) c.3122C>T (p.Ala1041Val) c.373C>T c.3128C>T (p.Ala1043Val) c.1253C>T (p.Ala418Val) | |
6 | g.129297687T>A | CA451936086 | LAMA2 | c.2859T>A (p.Ala953=) c.3123T>A (p.Ala1041=) c.374T>A c.3129T>A (p.Ala1043=) c.1254T>A (p.Ala418=) | gnomAD v4 |
6 | g.129297687T>C | CA451936087 | LAMA2 | c.2859T>C (p.Ala953=) c.3123T>C (p.Ala1041=) c.374T>C c.3129T>C (p.Ala1043=) c.1254T>C (p.Ala418=) | |
6 | g.129297687T>G | CA451936088 | LAMA2 | c.2859T>G (p.Ala953=) c.3123T>G (p.Ala1041=) c.374T>G c.3129T>G (p.Ala1043=) c.1254T>G (p.Ala418=) | |
6 | g.129297687_129297690dup | CA2739266093 | LAMA2 | c.2859_2862dup (p.Thr955TrpfsTer22) c.3123_3126dup (p.Thr1043TrpfsTer22) c.374_377dup c.3129_3132dup (p.Thr1045TrpfsTer22) c.1254_1257dup (p.Thr420TrpfsTer22) | ClinVar |
6 | g.129297688G>A | CA3993094 | LAMA2 | c.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 |
6 | g.129297688G>C | CA365610913 | LAMA2 | c.2860G>C (p.Gly954Arg) c.3124G>C (p.Gly1042Arg) c.375G>C c.3130G>C (p.Gly1044Arg) c.1255G>C (p.Gly419Arg) | |
6 | g.129297688G= | CA1663102299 | LAMA2 | c.2860G= (p.Gly954=) c.3124G= (p.Gly1042=) c.375G= c.3130G= (p.Gly1044=) c.1255G= (p.Gly419=) | |
6 | g.129297688G>T | CA365610914 | LAMA2 | c.2860G>T (p.Gly954Trp) c.3124G>T (p.Gly1042Trp) c.375G>T c.3130G>T (p.Gly1044Trp) c.1255G>T (p.Gly419Trp) | |
6 | g.129297689G>A | CA365610915 | LAMA2 | c.2861G>A (p.Gly954Glu) c.3125G>A (p.Gly1042Glu) c.376G>A c.3131G>A (p.Gly1044Glu) c.1256G>A (p.Gly419Glu) | dbSNP COSMIC |
6 | g.129297689G>C | CA365610916 | LAMA2 | c.2861G>C (p.Gly954Ala) c.3125G>C (p.Gly1042Ala) c.376G>C c.3131G>C (p.Gly1044Ala) c.1256G>C (p.Gly419Ala) | |
6 | g.129297689G= | CA1663102303 | LAMA2 | c.2861G= (p.Gly954=) c.3125G= (p.Gly1042=) c.376G= c.3131G= (p.Gly1044=) c.1256G= (p.Gly419=) | |
6 | g.129297689G>T | CA365610917 | LAMA2 | c.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 |
6 | g.129297690G>A | CA451936091 | LAMA2 | c.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 |
6 | g.129297690G>C | CA451936092 | LAMA2 | c.2862G>C (p.Gly954=) c.3126G>C (p.Gly1042=) c.377G>C c.3132G>C (p.Gly1044=) c.1257G>C (p.Gly419=) | |
6 | g.129297690G>T | CA451936093 | LAMA2 | c.2862G>T (p.Gly954=) c.3126G>T (p.Gly1042=) c.377G>T c.3132G>T (p.Gly1044=) c.1257G>T (p.Gly419=) | |
6 | g.129297691_129297697del | CA2580074943 | LAMA2 | c.2863_2869del (p.Thr955AlafsTer?) c.3127_3133del (p.Thr1043AlafsTer?) c.378_384del c.3133_3139del (p.Thr1045AlafsTer?) c.1258_1264del (p.Thr420AlafsTer?) | ClinVar |
6 | g.129297691A= | CA1663102307 | LAMA2 | c.2863A= (p.Thr955=) c.3127A= (p.Thr1043=) c.378A= c.3133A= (p.Thr1045=) c.1258A= (p.Thr420=) | |
6 | g.129297691A>C | CA365610918 | LAMA2 | c.2863A>C (p.Thr955Pro) c.3127A>C (p.Thr1043Pro) c.378A>C c.3133A>C (p.Thr1045Pro) c.1258A>C (p.Thr420Pro) | |
6 | g.129297691A>G | CA3993095 | LAMA2 | c.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 |
6 | g.129297691A>T | CA365610919 | LAMA2 | c.2863A>T (p.Thr955Ser) c.3127A>T (p.Thr1043Ser) c.378A>T c.3133A>T (p.Thr1045Ser) c.1258A>T (p.Thr420Ser) | |
6 | g.129297692C>A | CA365610920 | LAMA2 | c.2864C>A (p.Thr955Asn) c.3128C>A (p.Thr1043Asn) c.379C>A c.3134C>A (p.Thr1045Asn) c.1259C>A (p.Thr420Asn) | |
6 | g.129297692C>G | CA365610921 | LAMA2 | c.2864C>G (p.Thr955Ser) c.3128C>G (p.Thr1043Ser) c.379C>G c.3134C>G (p.Thr1045Ser) c.1259C>G (p.Thr420Ser) | |
6 | g.129297692C>T | CA365610922 | LAMA2 | c.2864C>T (p.Thr955Ile) c.3128C>T (p.Thr1043Ile) c.379C>T c.3134C>T (p.Thr1045Ile) c.1259C>T (p.Thr420Ile) | |
6 | g.129297693C>A | CA451936097 | LAMA2 | c.2865C>A (p.Thr955=) c.3129C>A (p.Thr1043=) c.380C>A c.3135C>A (p.Thr1045=) c.1260C>A (p.Thr420=) | |
6 | g.129297693C>G | CA451936096 | LAMA2 | c.2865C>G (p.Thr955=) c.3129C>G (p.Thr1043=) c.380C>G c.3135C>G (p.Thr1045=) c.1260C>G (p.Thr420=) | |
6 | g.129297693C>T | CA451936095 | LAMA2 | c.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 |
6 | g.129297694T>A | CA365610925 | LAMA2 | c.2866T>A (p.Phe956Ile) c.3130T>A (p.Phe1044Ile) c.381T>A c.3136T>A (p.Phe1046Ile) c.1261T>A (p.Phe421Ile) | |
6 | g.129297694T>C | CA365610923 | LAMA2 | c.2866T>C (p.Phe956Leu) c.3130T>C (p.Phe1044Leu) c.381T>C c.3136T>C (p.Phe1046Leu) c.1261T>C (p.Phe421Leu) | |
6 | g.129297694T>G | CA365610924 | LAMA2 | c.2866T>G (p.Phe956Val) c.3130T>G (p.Phe1044Val) c.381T>G c.3136T>G (p.Phe1046Val) c.1261T>G (p.Phe421Val) | |
6 | g.129297695T>A | CA365610926 | LAMA2 | c.2867T>A (p.Phe956Tyr) c.3131T>A (p.Phe1044Tyr) c.382T>A c.3137T>A (p.Phe1046Tyr) c.1262T>A (p.Phe421Tyr) | |
6 | g.129297695T>C | CA365610927 | LAMA2 | c.2867T>C (p.Phe956Ser) c.3131T>C (p.Phe1044Ser) c.382T>C c.3137T>C (p.Phe1046Ser) c.1262T>C (p.Phe421Ser) | |
6 | g.129297695T>G | CA365610928 | LAMA2 | c.2867T>G (p.Phe956Cys) c.3131T>G (p.Phe1044Cys) c.382T>G c.3137T>G (p.Phe1046Cys) c.1262T>G (p.Phe421Cys) | |
6 | g.129297696T>A | CA365610929 | LAMA2 | c.2868T>A (p.Phe956Leu) c.3132T>A (p.Phe1044Leu) c.383T>A c.3138T>A (p.Phe1046Leu) c.1263T>A (p.Phe421Leu) | |
6 | g.129297696T>C | CA451936098 | LAMA2 | c.2868T>C (p.Phe956=) c.3132T>C (p.Phe1044=) c.383T>C c.3138T>C (p.Phe1046=) c.1263T>C (p.Phe421=) | |
6 | g.129297696T>G | CA365610930 | LAMA2 | c.2868T>G (p.Phe956Leu) c.3132T>G (p.Phe1044Leu) c.383T>G c.3138T>G (p.Phe1046Leu) c.1263T>G (p.Phe421Leu) | |
6 | g.129297697G>A | CA365610931 | LAMA2 | c.2869G>A (p.Gly957Ser) c.3133G>A (p.Gly1045Ser) c.384G>A c.3139G>A (p.Gly1047Ser) c.1264G>A (p.Gly422Ser) | |
6 | g.129297697G>C | CA365610932 | LAMA2 | c.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 |
6 | g.129297697G= | CA1663102310 | LAMA2 | c.2869G= (p.Gly957=) c.3133G= (p.Gly1045=) c.384G= c.3139G= (p.Gly1047=) c.1264G= (p.Gly422=) | |
6 | g.129297697G>T | CA365610933 | LAMA2 | c.2869G>T (p.Gly957Cys) c.3133G>T (p.Gly1045Cys) c.384G>T c.3139G>T (p.Gly1047Cys) c.1264G>T (p.Gly422Cys) | |
6 | g.129297698G>A | CA365610934 | LAMA2 | c.2870G>A (p.Gly957Asp) c.3134G>A (p.Gly1045Asp) c.385G>A c.3140G>A (p.Gly1047Asp) c.1265G>A (p.Gly422Asp) | |
6 | g.129297698G>C | CA365610935 | LAMA2 | c.2870G>C (p.Gly957Ala) c.3134G>C (p.Gly1045Ala) c.385G>C c.3140G>C (p.Gly1047Ala) c.1265G>C (p.Gly422Ala) | |
6 | g.129297698G>T | CA365610936 | LAMA2 | c.2870G>T (p.Gly957Val) c.3134G>T (p.Gly1045Val) c.385G>T c.3140G>T (p.Gly1047Val) c.1265G>T (p.Gly422Val) | |
6 | g.129297699C>A | CA451936101 | LAMA2 | c.2871C>A (p.Gly957=) c.3135C>A (p.Gly1045=) c.386C>A c.3141C>A (p.Gly1047=) c.1266C>A (p.Gly422=) | |
6 | g.129297699C>G | CA451936102 | LAMA2 | c.2871C>G (p.Gly957=) c.3135C>G (p.Gly1045=) c.386C>G c.3141C>G (p.Gly1047=) c.1266C>G (p.Gly422=) | |
6 | g.129297699C>T | CA451936103 | LAMA2 | c.2871C>T (p.Gly957=) c.3135C>T (p.Gly1045=) c.386C>T c.3141C>T (p.Gly1047=) c.1266C>T (p.Gly422=) | |
6 | g.129297700del | CA2578736999 | LAMA2 | c.2872del (p.Leu958TyrfsTer?) c.3136del (p.Leu1046TyrfsTer?) c.387del c.3142del (p.Leu1048TyrfsTer?) c.1267del (p.Leu423TyrfsTer?) | |
6 | g.129297700C>A | CA365610937 | LAMA2 | c.2872C>A (p.Leu958Ile) c.3136C>A (p.Leu1046Ile) c.387C>A c.3142C>A (p.Leu1048Ile) c.1267C>A (p.Leu423Ile) | |
6 | g.129297700C>G | CA365610938 | LAMA2 | c.2872C>G (p.Leu958Val) c.3136C>G (p.Leu1046Val) c.387C>G c.3142C>G (p.Leu1048Val) c.1267C>G (p.Leu423Val) | |
6 | g.129297700C>T | CA451936104 | LAMA2 | c.2872C>T (p.Leu958=) c.3136C>T (p.Leu1046=) c.387C>T c.3142C>T (p.Leu1048=) c.1267C>T (p.Leu423=) | |
6 | g.129297701T>A | CA365610939 | LAMA2 | c.2873T>A (p.Leu958Gln) c.3137T>A (p.Leu1046Gln) c.388T>A c.3143T>A (p.Leu1048Gln) c.1268T>A (p.Leu423Gln) | |
6 | g.129297701T>C | CA365610940 | LAMA2 | c.2873T>C (p.Leu958Pro) c.3137T>C (p.Leu1046Pro) c.388T>C c.3143T>C (p.Leu1048Pro) c.1268T>C (p.Leu423Pro) | |
6 | g.129297701T>G | CA365610941 | LAMA2 | c.2873T>G (p.Leu958Arg) c.3137T>G (p.Leu1046Arg) c.388T>G c.3143T>G (p.Leu1048Arg) c.1268T>G (p.Leu423Arg) | |
6 | g.129297702A= | CA1663102312 | LAMA2 | c.2874A= (p.Leu958=) c.3138A= (p.Leu1046=) c.389A= c.3144A= (p.Leu1048=) c.1269A= (p.Leu423=) | |
6 | g.129297702A>C | CA451936105 | LAMA2 | c.2874A>C (p.Leu958=) c.3138A>C (p.Leu1046=) c.389A>C c.3144A>C (p.Leu1048=) c.1269A>C (p.Leu423=) | |
6 | g.129297702A>G | CA3993096 | LAMA2 | c.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 |
6 | g.129297702A>T | CA451936106 | LAMA2 | c.2874A>T (p.Leu958=) c.3138A>T (p.Leu1046=) c.389A>T c.3144A>T (p.Leu1048=) c.1269A>T (p.Leu423=) | |
6 | g.129297703C>A | CA365610942 | LAMA2 | c.2875C>A (p.Gln959Lys) c.3139C>A (p.Gln1047Lys) c.390C>A c.3145C>A (p.Gln1049Lys) c.1270C>A (p.Gln424Lys) | |
6 | g.129297703C>G | CA365610943 | LAMA2 | c.2875C>G (p.Gln959Glu) c.3139C>G (p.Gln1047Glu) c.390C>G c.3145C>G (p.Gln1049Glu) c.1270C>G (p.Gln424Glu) | |
6 | g.129297703C>T | CA365610944 | LAMA2 | c.2875C>T (p.Gln959Ter) c.3139C>T (p.Gln1047Ter) c.390C>T c.3145C>T (p.Gln1049Ter) c.1270C>T (p.Gln424Ter) | |
6 | g.129297704A= | CA1663102314 | LAMA2 | c.2876A= (p.Gln959=) c.3140A= (p.Gln1047=) c.391A= c.3146A= (p.Gln1049=) c.1271A= (p.Gln424=) | |
6 | g.129297704A>C | CA365610945 | LAMA2 | c.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 |
6 | g.129297704A>G | CA365610946 | LAMA2 | c.2876A>G (p.Gln959Arg) c.3140A>G (p.Gln1047Arg) c.391A>G c.3146A>G (p.Gln1049Arg) c.1271A>G (p.Gln424Arg) | |
6 | g.129297704A>T | CA365610947 | LAMA2 | c.2876A>T (p.Gln959Leu) c.3140A>T (p.Gln1047Leu) c.391A>T c.3146A>T (p.Gln1049Leu) c.1271A>T (p.Gln424Leu) | |
6 | g.129297705A= | CA1663102319 | LAMA2 | c.2877A= (p.Gln959=) c.3141A= (p.Gln1047=) c.392A= c.3147A= (p.Gln1049=) c.1272A= (p.Gln424=) | |
6 | g.129297705A>C | CA365610948 | LAMA2 | c.2877A>C (p.Gln959His) c.3141A>C (p.Gln1047His) c.392A>C c.3147A>C (p.Gln1049His) c.1272A>C (p.Gln424His) | |
6 | g.129297705A>G | CA3993097 | LAMA2 | c.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 |
6 | g.129297705A>T | CA365610949 | LAMA2 | c.2877A>T (p.Gln959His) c.3141A>T (p.Gln1047His) c.392A>T c.3147A>T (p.Gln1049His) c.1272A>T (p.Gln424His) | |
6 | g.129297705_129297706dup | CA2580074944 | LAMA2 | c.2877_2878dup (p.Ser960TyrfsTer?) c.3141_3142dup (p.Ser1048TyrfsTer?) c.392_393dup c.3147_3148dup (p.Ser1050TyrfsTer?) c.1272_1273dup (p.Ser425TyrfsTer?) | ClinVar |
6 | g.129297706T>A | CA365610952 | LAMA2 | c.2878T>A (p.Ser960Thr) c.3142T>A (p.Ser1048Thr) c.393T>A c.3148T>A (p.Ser1050Thr) c.1273T>A (p.Ser425Thr) | gnomAD v4 |
6 | g.129297706T>C | CA365610950 | LAMA2 | c.2878T>C (p.Ser960Pro) c.3142T>C (p.Ser1048Pro) c.393T>C c.3148T>C (p.Ser1050Pro) c.1273T>C (p.Ser425Pro) | gnomAD v4 |
6 | g.129297706T>G | CA365610951 | LAMA2 | c.2878T>G (p.Ser960Ala) c.3142T>G (p.Ser1048Ala) c.393T>G c.3148T>G (p.Ser1050Ala) c.1273T>G (p.Ser425Ala) | |
6 | g.129297707C>A | CA365610953 | LAMA2 | c.2879C>A (p.Ser960Ter) c.3143C>A (p.Ser1048Ter) c.394C>A c.3149C>A (p.Ser1050Ter) c.1274C>A (p.Ser425Ter) | |
6 | g.129297707C= | CA1663102323 | LAMA2 | c.2879C= (p.Ser960=) c.3143C= (p.Ser1048=) c.394C= c.3149C= (p.Ser1050=) c.1274C= (p.Ser425=) | |
6 | g.129297707C>G | CA365610954 | LAMA2 | c.2879C>G (p.Ser960Ter) c.3143C>G (p.Ser1048Ter) c.394C>G c.3149C>G (p.Ser1050Ter) c.1274C>G (p.Ser425Ter) | ClinVar |
6 | g.129297707C>T | CA365610955 | LAMA2 | c.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 |
6 | g.129297708A= | CA1663102329 | LAMA2 | c.2880A= (p.Ser960=) c.3144A= (p.Ser1048=) c.395A= c.3150A= (p.Ser1050=) c.1275A= (p.Ser425=) | |
6 | g.129297708A>C | CA451936109 | LAMA2 | c.2880A>C (p.Ser960=) c.3144A>C (p.Ser1048=) c.395A>C c.3150A>C (p.Ser1050=) c.1275A>C (p.Ser425=) | |
6 | g.129297708A>G | CA451936110 | LAMA2 | c.2880A>G (p.Ser960=) c.3144A>G (p.Ser1048=) c.395A>G c.3150A>G (p.Ser1050=) c.1275A>G (p.Ser425=) | ClinVar dbSNP |
6 | g.129297708A>T | CA3993098 | LAMA2 | c.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 |
6 | g.129297709G>A | CA3993099 | LAMA2 | c.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 |
6 | g.129297709G>C | CA365610956 | LAMA2 | c.2881G>C (p.Ala961Pro) c.3145G>C (p.Ala1049Pro) c.396G>C c.3151G>C (p.Ala1051Pro) c.1276G>C (p.Ala426Pro) | |
6 | g.129297709G= | CA1663102334 | LAMA2 | c.2881G= (p.Ala961=) c.3145G= (p.Ala1049=) c.396G= c.3151G= (p.Ala1051=) c.1276G= (p.Ala426=) | |
6 | g.129297709G>T | CA365610957 | LAMA2 | c.2881G>T (p.Ala961Ser) c.3145G>T (p.Ala1049Ser) c.396G>T c.3151G>T (p.Ala1051Ser) c.1276G>T (p.Ala426Ser) | |
6 | g.129297710C>A | CA365610958 | LAMA2 | c.2882C>A (p.Ala961Glu) c.3146C>A (p.Ala1049Glu) c.397C>A c.3152C>A (p.Ala1051Glu) c.1277C>A (p.Ala426Glu) | COSMIC |
6 | g.129297710C>G | CA365610959 | LAMA2 | c.2882C>G (p.Ala961Gly) c.3146C>G (p.Ala1049Gly) c.397C>G c.3152C>G (p.Ala1051Gly) c.1277C>G (p.Ala426Gly) | |
6 | g.129297710C>T | CA365610960 | LAMA2 | c.2882C>T (p.Ala961Val) c.3146C>T (p.Ala1049Val) c.397C>T c.3152C>T (p.Ala1051Val) c.1277C>T (p.Ala426Val) | |
6 | g.129297711A= | CA1663102337 | LAMA2 | c.2883A= (p.Ala961=) c.3147A= (p.Ala1049=) c.398A= c.3153A= (p.Ala1051=) c.1278A= (p.Ala426=) | |
6 | g.129297711A>C | CA451936112 | LAMA2 | c.2883A>C (p.Ala961=) c.3147A>C (p.Ala1049=) c.398A>C c.3153A>C (p.Ala1051=) c.1278A>C (p.Ala426=) | |
6 | g.129297711A>G | CA451936113 | LAMA2 | c.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 |
6 | g.129297711A>T | CA451936114 | LAMA2 | c.2883A>T (p.Ala961=) c.3147A>T (p.Ala1049=) c.398A>T c.3153A>T (p.Ala1051=) c.1278A>T (p.Ala426=) | |
6 | g.129297712A>C | CA451936115 | LAMA2 | c.2884A>C (p.Arg962=) c.3148A>C (p.Arg1050=) c.399A>C c.3154A>C (p.Arg1052=) c.1279A>C (p.Arg427=) | |
6 | g.129297712A>G | CA365610961 | LAMA2 | c.2884A>G (p.Arg962Gly) c.3148A>G (p.Arg1050Gly) c.399A>G c.3154A>G (p.Arg1052Gly) c.1279A>G (p.Arg427Gly) | gnomAD v4 |
6 | g.129297712A>T | CA365610962 | LAMA2 | c.2884A>T (p.Arg962Trp) c.3148A>T (p.Arg1050Trp) c.399A>T c.3154A>T (p.Arg1052Trp) c.1279A>T (p.Arg427Trp) | |
6 | g.129297713G>A | CA3993100 | LAMA2 | c.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 |
6 | g.129297713G>C | CA365610964 | LAMA2 | c.2885G>C (p.Arg962Thr) c.3149G>C (p.Arg1050Thr) c.400G>C c.3155G>C (p.Arg1052Thr) c.1280G>C (p.Arg427Thr) | gnomAD v4 |
6 | g.129297713G= | CA1663102346 | LAMA2 | c.2885G= (p.Arg962=) c.3149G= (p.Arg1050=) c.400G= c.3155G= (p.Arg1052=) c.1280G= (p.Arg427=) | |
6 | g.129297713G>T | CA365610963 | LAMA2 | c.2885G>T (p.Arg962Met) c.3149G>T (p.Arg1050Met) c.400G>T c.3155G>T (p.Arg1052Met) c.1280G>T (p.Arg427Met) | |
6 | g.129297714G>A | CA3993101 | LAMA2 | c.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 |
6 | g.129297714G>C | CA365610965 | LAMA2 | c.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 |
6 | g.129297714G= | CA1663102353 | LAMA2 | c.2886G= (p.Arg962=) c.3150G= (p.Arg1050=) c.401G= c.3156G= (p.Arg1052=) c.1281G= (p.Arg427=) | |
6 | g.129297714G>T | CA365610966 | LAMA2 | c.2886G>T (p.Arg962Ser) c.3150G>T (p.Arg1050Ser) c.401G>T c.3156G>T (p.Arg1052Ser) c.1281G>T (p.Arg427Ser) | |
6 | g.129297715G>A | CA365610967 | LAMA2 | c.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 |
6 | g.129297715G>C | CA365610968 | LAMA2 | c.2887G>C (p.Gly963Arg) c.3151G>C (p.Gly1051Arg) c.402G>C c.3157G>C (p.Gly1053Arg) c.1282G>C (p.Gly428Arg) | |
6 | g.129297715G>T | CA365610969 | LAMA2 | c.2887G>T (p.Gly963Cys) c.3151G>T (p.Gly1051Cys) c.402G>T c.3157G>T (p.Gly1053Cys) c.1282G>T (p.Gly428Cys) | |
6 | g.129297716G>A | CA3993103 | LAMA2 | c.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 |
6 | g.129297716G>C | CA146900500 | LAMA2 | c.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 |
6 | g.129297716G= | CA1663102362 | LAMA2 | c.2888G= (p.Gly963=) c.3152G= (p.Gly1051=) c.403G= c.3158G= (p.Gly1053=) c.1283G= (p.Gly428=) | |
6 | g.129297716G>T | CA3993102 | LAMA2 | c.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 |
6 | g.129297717C>A | CA451936117 | LAMA2 | c.2889C>A (p.Gly963=) c.3153C>A (p.Gly1051=) c.404C>A c.3159C>A (p.Gly1053=) c.1284C>A (p.Gly428=) | |
6 | g.129297717C>G | CA451936118 | LAMA2 | c.2889C>G (p.Gly963=) c.3153C>G (p.Gly1051=) c.404C>G c.3159C>G (p.Gly1053=) c.1284C>G (p.Gly428=) | |
6 | g.129297717C>T | CA451936119 | LAMA2 | c.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 |
6 | g.129297718T>A | CA365610970 | LAMA2 | c.2890T>A (p.Cys964Ser) c.3154T>A (p.Cys1052Ser) c.405T>A c.3160T>A (p.Cys1054Ser) c.1285T>A (p.Cys429Ser) | |
6 | g.129297718T>C | CA365610971 | LAMA2 | c.2890T>C (p.Cys964Arg) c.3154T>C (p.Cys1052Arg) c.405T>C c.3160T>C (p.Cys1054Arg) c.1285T>C (p.Cys429Arg) | |
6 | g.129297718T>G | CA365610972 | LAMA2 | c.2890T>G (p.Cys964Gly) c.3154T>G (p.Cys1052Gly) c.405T>G c.3160T>G (p.Cys1054Gly) c.1285T>G (p.Cys429Gly) | |
6 | g.129297719G>A | CA365610973 | LAMA2 | c.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 |
6 | g.129297719G>C | CA365610974 | LAMA2 | c.2891G>C (p.Cys964Ser) c.3155G>C (p.Cys1052Ser) c.406G>C c.3161G>C (p.Cys1054Ser) c.1286G>C (p.Cys429Ser) | |
6 | g.129297719G= | CA1663102365 | LAMA2 | c.2891G= (p.Cys964=) c.3155G= (p.Cys1052=) c.406G= c.3161G= (p.Cys1054=) c.1286G= (p.Cys429=) | |
6 | g.129297719G>T | CA365610975 | LAMA2 | c.2891G>T (p.Cys964Phe) c.3155G>T (p.Cys1052Phe) c.406G>T c.3161G>T (p.Cys1054Phe) c.1286G>T (p.Cys429Phe) | |
6 | g.129297720T>A | CA365610976 | LAMA2 | c.2892T>A (p.Cys964Ter) c.3156T>A (p.Cys1052Ter) c.407T>A c.3162T>A (p.Cys1054Ter) c.1287T>A (p.Cys429Ter) | |
6 | g.129297720T>C | CA3993104 | LAMA2 | c.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 |
6 | g.129297720T>G | CA365610977 | LAMA2 | c.2892T>G (p.Cys964Trp) c.3156T>G (p.Cys1052Trp) c.407T>G c.3162T>G (p.Cys1054Trp) c.1287T>G (p.Cys429Trp) | |
6 | g.129297720T= | CA1663102368 | LAMA2 | c.2892T= (p.Cys964=) c.3156T= (p.Cys1052=) c.407T= c.3162T= (p.Cys1054=) c.1287T= (p.Cys429=) | |
6 | g.129297721G>A | CA365610978 | LAMA2 | c.2893G>A (p.Val965Ile) c.3157G>A (p.Val1053Ile) c.408G>A c.3163G>A (p.Val1055Ile) c.1288G>A (p.Val430Ile) | |
6 | g.129297721G>C | CA365610979 | LAMA2 | c.2893G>C (p.Val965Leu) c.3157G>C (p.Val1053Leu) c.408G>C c.3163G>C (p.Val1055Leu) c.1288G>C (p.Val430Leu) | |
6 | g.129297721G>T | CA365610980 | LAMA2 | c.2893G>T (p.Val965Phe) c.3157G>T (p.Val1053Phe) c.408G>T c.3163G>T (p.Val1055Phe) c.1288G>T (p.Val430Phe) | |
6 | g.129297722T>A | CA365610981 | LAMA2 | c.2894T>A (p.Val965Asp) c.3158T>A (p.Val1053Asp) c.409T>A c.3164T>A (p.Val1055Asp) c.1289T>A (p.Val430Asp) | |
6 | g.129297722T>C | CA3993105 | LAMA2 | c.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 |
6 | g.129297722T>G | CA365610982 | LAMA2 | c.2894T>G (p.Val965Gly) c.3158T>G (p.Val1053Gly) c.409T>G c.3164T>G (p.Val1055Gly) c.1289T>G (p.Val430Gly) | |
6 | g.129297722T= | CA1663102370 | LAMA2 | c.2894T= (p.Val965=) c.3158T= (p.Val1053=) c.409T= c.3164T= (p.Val1055=) c.1289T= (p.Val430=) | |
6 | g.129297723T>A | CA451936120 | LAMA2 | c.2895T>A (p.Val965=) c.3159T>A (p.Val1053=) c.410T>A c.3165T>A (p.Val1055=) c.1290T>A (p.Val430=) | |
6 | g.129297723T>C | CA451936121 | LAMA2 | c.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 |
6 | g.129297723T>G | CA451936122 | LAMA2 | c.2895T>G (p.Val965=) c.3159T>G (p.Val1053=) c.410T>G c.3165T>G (p.Val1055=) c.1290T>G (p.Val430=) | |
6 | g.129297723T= | CA1663102372 | LAMA2 | c.2895T= (p.Val965=) c.3159T= (p.Val1053=) c.410T= c.3165T= (p.Val1055=) c.1290T= (p.Val430=) | |
6 | g.129297724C>A | CA365610983 | LAMA2 | c.2896C>A (p.Pro966Thr) c.3160C>A (p.Pro1054Thr) c.411C>A c.3166C>A (p.Pro1056Thr) c.1291C>A (p.Pro431Thr) | |
6 | g.129297724C>G | CA365610984 | LAMA2 | c.2896C>G (p.Pro966Ala) c.3160C>G (p.Pro1054Ala) c.411C>G c.3166C>G (p.Pro1056Ala) c.1291C>G (p.Pro431Ala) | gnomAD v4 |
6 | g.129297724C>T | CA365610985 | LAMA2 | c.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 |
6 | g.129297725C>A | CA365610986 | LAMA2 | c.2897C>A (p.Pro966His) c.3161C>A (p.Pro1054His) c.412C>A c.3167C>A (p.Pro1056His) c.1292C>A (p.Pro431His) | |
6 | g.129297725C= | CA1663102375 | LAMA2 | c.2897C= (p.Pro966=) c.3161C= (p.Pro1054=) c.412C= c.3167C= (p.Pro1056=) c.1292C= (p.Pro431=) | |
6 | g.129297725C>G | CA365610987 | LAMA2 | c.2897C>G (p.Pro966Arg) c.3161C>G (p.Pro1054Arg) c.412C>G c.3167C>G (p.Pro1056Arg) c.1292C>G (p.Pro431Arg) | |
6 | g.129297725C>T | CA3993106 | LAMA2 | c.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 |
6 | g.129297726C>A | CA451936123 | LAMA2 | c.2898C>A (p.Pro966=) c.3162C>A (p.Pro1054=) c.413C>A c.3168C>A (p.Pro1056=) c.1293C>A (p.Pro431=) | |
6 | g.129297726C>G | CA451936125 | LAMA2 | c.2898C>G (p.Pro966=) c.3162C>G (p.Pro1054=) c.413C>G c.3168C>G (p.Pro1056=) c.1293C>G (p.Pro431=) | |
6 | g.129297726C>T | CA451936124 | LAMA2 | c.2898C>T (p.Pro966=) c.3162C>T (p.Pro1054=) c.413C>T c.3168C>T (p.Pro1056=) c.1293C>T (p.Pro431=) | |
6 | g.129297727T>A | CA365610990 | LAMA2 | c.2899T>A (p.Cys967Ser) c.3163T>A (p.Cys1055Ser) c.414T>A c.3169T>A (p.Cys1057Ser) c.1294T>A (p.Cys432Ser) | |
6 | g.129297727T>C | CA365610988 | LAMA2 | c.2899T>C (p.Cys967Arg) c.3163T>C (p.Cys1055Arg) c.414T>C c.3169T>C (p.Cys1057Arg) c.1294T>C (p.Cys432Arg) | |
6 | g.129297727T>G | CA365610989 | LAMA2 | c.2899T>G (p.Cys967Gly) c.3163T>G (p.Cys1055Gly) c.414T>G c.3169T>G (p.Cys1057Gly) c.1294T>G (p.Cys432Gly) | |
6 | g.129297728G>A | CA365610991 | LAMA2 | c.2900G>A (p.Cys967Tyr) c.3164G>A (p.Cys1055Tyr) c.415G>A c.3170G>A (p.Cys1057Tyr) c.1295G>A (p.Cys432Tyr) | |
6 | g.129297728G>C | CA365610992 | LAMA2 | c.2900G>C (p.Cys967Ser) c.3164G>C (p.Cys1055Ser) c.415G>C c.3170G>C (p.Cys1057Ser) c.1295G>C (p.Cys432Ser) | gnomAD v4 |
6 | g.129297728G= | CA1663102377 | LAMA2 | c.2900G= (p.Cys967=) c.3164G= (p.Cys1055=) c.415G= c.3170G= (p.Cys1057=) c.1295G= (p.Cys432=) | |
6 | g.129297728G>T | CA365610993 | LAMA2 | c.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 |
6 | g.129297729C>A | CA341325 | LAMA2 | c.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 |
6 | g.129297729C= | CA1663102380 | LAMA2 | c.2901C= (p.Cys967=) c.3165C= (p.Cys1055=) c.416C= c.3171C= (p.Cys1057=) c.1296C= (p.Cys432=) | |
6 | g.129297729C>G | CA365610994 | LAMA2 | c.2901C>G (p.Cys967Trp) c.3165C>G (p.Cys1055Trp) c.416C>G c.3171C>G (p.Cys1057Trp) c.1296C>G (p.Cys432Trp) | |
6 | g.129297729C>T | CA451936126 | LAMA2 | c.2901C>T (p.Cys967=) c.3165C>T (p.Cys1055=) c.416C>T c.3171C>T (p.Cys1057=) c.1296C>T (p.Cys432=) | |
6 | g.129297730A>C | CA365610995 | LAMA2 | c.2902A>C (p.Asn968His) c.3166A>C (p.Asn1056His) c.417A>C c.3172A>C (p.Asn1058His) c.1297A>C (p.Asn433His) | |
6 | g.129297730A>G | CA365610996 | LAMA2 | c.2902A>G (p.Asn968Asp) c.3166A>G (p.Asn1056Asp) c.417A>G c.3172A>G (p.Asn1058Asp) c.1297A>G (p.Asn433Asp) | |
6 | g.129297730A>T | CA365610997 | LAMA2 | c.2902A>T (p.Asn968Tyr) c.3166A>T (p.Asn1056Tyr) c.417A>T c.3172A>T (p.Asn1058Tyr) c.1297A>T (p.Asn433Tyr) | |
6 | g.129297731dup | CA2680313389 | LAMA2 | c.2903dup (p.Asn968LysfsTer8) c.3167dup (p.Asn1056LysfsTer8) c.418dup c.3173dup (p.Asn1058LysfsTer8) c.1298dup (p.Asn433LysfsTer8) | gnomAD v4 |
6 | g.129297731A>C | CA365610998 | LAMA2 | c.2903A>C (p.Asn968Thr) c.3167A>C (p.Asn1056Thr) c.418A>C c.3173A>C (p.Asn1058Thr) c.1298A>C (p.Asn433Thr) | gnomAD v4 |
6 | g.129297731A>G | CA365610999 | LAMA2 | c.2903A>G (p.Asn968Ser) c.3167A>G (p.Asn1056Ser) c.418A>G c.3173A>G (p.Asn1058Ser) c.1298A>G (p.Asn433Ser) | |
6 | g.129297731A>T | CA365611000 | LAMA2 | c.2903A>T (p.Asn968Ile) c.3167A>T (p.Asn1056Ile) c.418A>T c.3173A>T (p.Asn1058Ile) c.1298A>T (p.Asn433Ile) | |
6 | g.129297732C>A | CA365611001 | LAMA2 | c.2904C>A (p.Asn968Lys) c.3168C>A (p.Asn1056Lys) c.419C>A c.3174C>A (p.Asn1058Lys) c.1299C>A (p.Asn433Lys) | gnomAD v4 |
6 | g.129297732C>G | CA365611002 | LAMA2 | c.2904C>G (p.Asn968Lys) c.3168C>G (p.Asn1056Lys) c.419C>G c.3174C>G (p.Asn1058Lys) c.1299C>G (p.Asn433Lys) | |
6 | g.129297732C>T | CA451936127 | LAMA2 | c.2904C>T (p.Asn968=) c.3168C>T (p.Asn1056=) c.419C>T c.3174C>T (p.Asn1058=) c.1299C>T (p.Asn433=) | |
6 | g.129297733T>A | CA3993107 | LAMA2 | c.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 |
6 | g.129297733T>C | CA365611003 | LAMA2 | c.2905T>C (p.Cys969Arg) c.3169T>C (p.Cys1057Arg) c.420T>C c.3175T>C (p.Cys1059Arg) c.1300T>C (p.Cys434Arg) | |
6 | g.129297733T>G | CA146900580 | LAMA2 | c.2905T>G (p.Cys969Gly) c.3169T>G (p.Cys1057Gly) c.420T>G c.3175T>G (p.Cys1059Gly) c.1300T>G (p.Cys434Gly) | dbSNP |
6 | g.129297733T= | CA1663102383 | LAMA2 | c.2905T= (p.Cys969=) c.3169T= (p.Cys1057=) c.420T= c.3175T= (p.Cys1059=) c.1300T= (p.Cys434=) | |
6 | g.129297734G>A | CA365611004 | LAMA2 | c.2906G>A (p.Cys969Tyr) c.3170G>A (p.Cys1057Tyr) c.421G>A c.3176G>A (p.Cys1059Tyr) c.1301G>A (p.Cys434Tyr) | ClinVar dbSNP |
6 | g.129297734G>C | CA365611005 | LAMA2 | c.2906G>C (p.Cys969Ser) c.3170G>C (p.Cys1057Ser) c.421G>C c.3176G>C (p.Cys1059Ser) c.1301G>C (p.Cys434Ser) | |
6 | g.129297734G>T | CA365611006 | LAMA2 | c.2906G>T (p.Cys969Phe) c.3170G>T (p.Cys1057Phe) c.421G>T c.3176G>T (p.Cys1059Phe) c.1301G>T (p.Cys434Phe) | |
6 | g.129297735C>A | CA365611007 | LAMA2 | c.2907C>A (p.Cys969Ter) c.3171C>A (p.Cys1057Ter) c.422C>A c.3177C>A (p.Cys1059Ter) c.1302C>A (p.Cys434Ter) | ClinVar dbSNP |
6 | g.129297735C= | CA1663102393 | LAMA2 | c.2907C= (p.Cys969=) c.3171C= (p.Cys1057=) c.422C= c.3177C= (p.Cys1059=) c.1302C= (p.Cys434=) | |
6 | g.129297735C>G | CA365611008 | LAMA2 | c.2907C>G (p.Cys969Trp) c.3171C>G (p.Cys1057Trp) c.422C>G c.3177C>G (p.Cys1059Trp) c.1302C>G (p.Cys434Trp) | |
6 | g.129297735C>T | CA451936128 | LAMA2 | c.2907C>T (p.Cys969=) c.3171C>T (p.Cys1057=) c.422C>T c.3177C>T (p.Cys1059=) c.1302C>T (p.Cys434=) | |
6 | g.129297736A>C | CA365611009 | LAMA2 | c.2908A>C (p.Asn970His) c.3172A>C (p.Asn1058His) c.423A>C c.3178A>C (p.Asn1060His) c.1303A>C (p.Asn435His) | |
6 | g.129297736A>G | CA365611010 | LAMA2 | c.2908A>G (p.Asn970Asp) c.3172A>G (p.Asn1058Asp) c.423A>G c.3178A>G (p.Asn1060Asp) c.1303A>G (p.Asn435Asp) | |
6 | g.129297736A>T | CA365611011 | LAMA2 | c.2908A>T (p.Asn970Tyr) c.3172A>T (p.Asn1058Tyr) c.423A>T c.3178A>T (p.Asn1060Tyr) c.1303A>T (p.Asn435Tyr) | |
6 | g.129297737A= | CA1663102396 | LAMA2 | c.2909A= (p.Asn970=) c.3173A= (p.Asn1058=) c.424A= c.3179A= (p.Asn1060=) c.1304A= (p.Asn435=) | |
6 | g.129297737A>C | CA365611012 | LAMA2 | c.2909A>C (p.Asn970Thr) c.3173A>C (p.Asn1058Thr) c.424A>C c.3179A>C (p.Asn1060Thr) c.1304A>C (p.Asn435Thr) | |
6 | g.129297737A>G | CA365611013 | LAMA2 | c.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 |
6 | g.129297737A>T | CA146900582 | LAMA2 | c.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 |
6 | g.129297738T>A | CA365611014 | LAMA2 | c.2910T>A (p.Asn970Lys) c.3174T>A (p.Asn1058Lys) c.425T>A c.3180T>A (p.Asn1060Lys) c.1305T>A (p.Asn435Lys) | dbSNP gnomAD v4 |
6 | g.129297738T>C | CA451936129 | LAMA2 | c.2910T>C (p.Asn970=) c.3174T>C (p.Asn1058=) c.425T>C c.3180T>C (p.Asn1060=) c.1305T>C (p.Asn435=) | |
6 | g.129297738T>G | CA365611015 | LAMA2 | c.2910T>G (p.Asn970Lys) c.3174T>G (p.Asn1058Lys) c.425T>G c.3180T>G (p.Asn1060Lys) c.1305T>G (p.Asn435Lys) | |
6 | g.129297738T= | CA1663102401 | LAMA2 | c.2910T= (p.Asn970=) c.3174T= (p.Asn1058=) c.425T= c.3180T= (p.Asn1060=) c.1305T= (p.Asn435=) | |
6 | g.129297739T>A | CA365611017 | LAMA2 | c.2911T>A (p.Ser971Thr) c.3175T>A (p.Ser1059Thr) c.426T>A c.3181T>A (p.Ser1061Thr) c.1306T>A (p.Ser436Thr) | |
6 | g.129297739T>C | CA365611018 | LAMA2 | c.2911T>C (p.Ser971Pro) c.3175T>C (p.Ser1059Pro) c.426T>C c.3181T>C (p.Ser1061Pro) c.1306T>C (p.Ser436Pro) | |
6 | g.129297739T>G | CA365611016 | LAMA2 | c.2911T>G (p.Ser971Ala) c.3175T>G (p.Ser1059Ala) c.426T>G c.3181T>G (p.Ser1061Ala) c.1306T>G (p.Ser436Ala) |