| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129465208G>A | CA365621797 | LAMA2 | c.7219G>A (p.Gly2407Arg) c.7483G>A (p.Gly2495Arg) n.850G>A c.7216G>A (p.Gly2406Arg) c.7477G>A (p.Gly2493Arg) c.7489G>A (p.Gly2497Arg) c.5614G>A (p.Gly1872Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465208G>C | CA365621801 | LAMA2 | c.7219G>C (p.Gly2407Arg) c.7483G>C (p.Gly2495Arg) n.850G>C c.7216G>C (p.Gly2406Arg) c.7477G>C (p.Gly2493Arg) c.7489G>C (p.Gly2497Arg) c.5614G>C (p.Gly1872Arg) | |
| 6 | g.129465208G= | CA1663192636 | LAMA2 | c.7219G= (p.Gly2407=) c.7483G= (p.Gly2495=) n.850G= c.7216G= (p.Gly2406=) c.7477G= (p.Gly2493=) c.7489G= (p.Gly2497=) c.5614G= (p.Gly1872=) | |
| 6 | g.129465208G>T | CA365621818 | LAMA2 | c.7219G>T (p.Gly2407Ter) c.7483G>T (p.Gly2495Ter) n.850G>T c.7216G>T (p.Gly2406Ter) c.7477G>T (p.Gly2493Ter) c.7489G>T (p.Gly2497Ter) c.5614G>T (p.Gly1872Ter) | |
| 6 | g.129465209G>A | CA365621823 | LAMA2 | c.7220G>A (p.Gly2407Glu) c.7484G>A (p.Gly2495Glu) n.851G>A c.7217G>A (p.Gly2406Glu) c.7478G>A (p.Gly2493Glu) c.7490G>A (p.Gly2497Glu) c.5615G>A (p.Gly1872Glu) | |
| 6 | g.129465209G>C | CA365621827 | LAMA2 | c.7220G>C (p.Gly2407Ala) c.7484G>C (p.Gly2495Ala) n.851G>C c.7217G>C (p.Gly2406Ala) c.7478G>C (p.Gly2493Ala) c.7490G>C (p.Gly2497Ala) c.5615G>C (p.Gly1872Ala) | |
| 6 | g.129465209G>T | CA365621825 | LAMA2 | c.7220G>T (p.Gly2407Val) c.7484G>T (p.Gly2495Val) n.851G>T c.7217G>T (p.Gly2406Val) c.7478G>T (p.Gly2493Val) c.7490G>T (p.Gly2497Val) c.5615G>T (p.Gly1872Val) | |
| 6 | g.129465210A>C | CA451926452 | LAMA2 | c.7221A>C (p.Gly2407=) c.7485A>C (p.Gly2495=) n.852A>C c.7218A>C (p.Gly2406=) c.7479A>C (p.Gly2493=) c.7491A>C (p.Gly2497=) c.5616A>C (p.Gly1872=) | |
| 6 | g.129465210A>G | CA451926453 | LAMA2 | c.7221A>G (p.Gly2407=) c.7485A>G (p.Gly2495=) n.852A>G c.7218A>G (p.Gly2406=) c.7479A>G (p.Gly2493=) c.7491A>G (p.Gly2497=) c.5616A>G (p.Gly1872=) | |
| 6 | g.129465210A>T | CA451926454 | LAMA2 | c.7221A>T (p.Gly2407=) c.7485A>T (p.Gly2495=) n.852A>T c.7218A>T (p.Gly2406=) c.7479A>T (p.Gly2493=) c.7491A>T (p.Gly2497=) c.5616A>T (p.Gly1872=) | |
| 6 | g.129465211A>C | CA365621831 | LAMA2 | c.7222A>C (p.Met2408Leu) c.7486A>C (p.Met2496Leu) n.853A>C c.7219A>C (p.Met2407Leu) c.7480A>C (p.Met2494Leu) c.7492A>C (p.Met2498Leu) c.5617A>C (p.Met1873Leu) | |
| 6 | g.129465211A>G | CA365621832 | LAMA2 | c.7222A>G (p.Met2408Val) c.7486A>G (p.Met2496Val) n.853A>G c.7219A>G (p.Met2407Val) c.7480A>G (p.Met2494Val) c.7492A>G (p.Met2498Val) c.5617A>G (p.Met1873Val) | |
| 6 | g.129465211A>T | CA365621835 | LAMA2 | c.7222A>T (p.Met2408Leu) c.7486A>T (p.Met2496Leu) n.853A>T c.7219A>T (p.Met2407Leu) c.7480A>T (p.Met2494Leu) c.7492A>T (p.Met2498Leu) c.5617A>T (p.Met1873Leu) | |
| 6 | g.129465212T>A | CA365621838 | LAMA2 | c.7223T>A (p.Met2408Lys) c.7487T>A (p.Met2496Lys) n.854T>A c.7220T>A (p.Met2407Lys) c.7481T>A (p.Met2494Lys) c.7493T>A (p.Met2498Lys) c.5618T>A (p.Met1873Lys) | |
| 6 | g.129465212T>C | CA146892120 | LAMA2 | c.7223T>C (p.Met2408Thr) c.7487T>C (p.Met2496Thr) n.854T>C c.7220T>C (p.Met2407Thr) c.7481T>C (p.Met2494Thr) c.7493T>C (p.Met2498Thr) c.5618T>C (p.Met1873Thr) | dbSNP |
| 6 | g.129465212T>G | CA365621842 | LAMA2 | c.7223T>G (p.Met2408Arg) c.7487T>G (p.Met2496Arg) n.854T>G c.7220T>G (p.Met2407Arg) c.7481T>G (p.Met2494Arg) c.7493T>G (p.Met2498Arg) c.5618T>G (p.Met1873Arg) | |
| 6 | g.129465212T= | CA1663192638 | LAMA2 | c.7223T= (p.Met2408=) c.7487T= (p.Met2496=) n.854T= c.7220T= (p.Met2407=) c.7481T= (p.Met2494=) c.7493T= (p.Met2498=) c.5618T= (p.Met1873=) | |
| 6 | g.129465213G>A | CA365621844 | LAMA2 | c.7224G>A (p.Met2408Ile) c.7488G>A (p.Met2496Ile) n.855G>A c.7221G>A (p.Met2407Ile) c.7482G>A (p.Met2494Ile) c.7494G>A (p.Met2498Ile) c.5619G>A (p.Met1873Ile) | |
| 6 | g.129465213G>C | CA365621847 | LAMA2 | c.7224G>C (p.Met2408Ile) c.7488G>C (p.Met2496Ile) n.855G>C c.7221G>C (p.Met2407Ile) c.7482G>C (p.Met2494Ile) c.7494G>C (p.Met2498Ile) c.5619G>C (p.Met1873Ile) | |
| 6 | g.129465213G>T | CA365621848 | LAMA2 | c.7224G>T (p.Met2408Ile) c.7488G>T (p.Met2496Ile) n.855G>T c.7221G>T (p.Met2407Ile) c.7482G>T (p.Met2494Ile) c.7494G>T (p.Met2498Ile) c.5619G>T (p.Met1873Ile) | |
| 6 | g.129465214G>A | CA365621850 | LAMA2 | c.7225G>A (p.Ala2409Thr) c.7489G>A (p.Ala2497Thr) n.856G>A c.7222G>A (p.Ala2408Thr) c.7483G>A (p.Ala2495Thr) c.7495G>A (p.Ala2499Thr) c.5620G>A (p.Ala1874Thr) | |
| 6 | g.129465214G>C | CA365621853 | LAMA2 | c.7225G>C (p.Ala2409Pro) c.7489G>C (p.Ala2497Pro) n.856G>C c.7222G>C (p.Ala2408Pro) c.7483G>C (p.Ala2495Pro) c.7495G>C (p.Ala2499Pro) c.5620G>C (p.Ala1874Pro) | |
| 6 | g.129465214G= | CA1663192640 | LAMA2 | c.7225G= (p.Ala2409=) c.7489G= (p.Ala2497=) n.856G= c.7222G= (p.Ala2408=) c.7483G= (p.Ala2495=) c.7495G= (p.Ala2499=) c.5620G= (p.Ala1874=) | |
| 6 | g.129465214G>T | CA365621857 | LAMA2 | c.7225G>T (p.Ala2409Ser) c.7489G>T (p.Ala2497Ser) n.856G>T c.7222G>T (p.Ala2408Ser) c.7483G>T (p.Ala2495Ser) c.7495G>T (p.Ala2499Ser) c.5620G>T (p.Ala1874Ser) | dbSNP |
| 6 | g.129465215C>A | CA365621864 | LAMA2 | c.7226C>A (p.Ala2409Asp) c.7490C>A (p.Ala2497Asp) n.857C>A c.7223C>A (p.Ala2408Asp) c.7484C>A (p.Ala2495Asp) c.7496C>A (p.Ala2499Asp) c.5621C>A (p.Ala1874Asp) | |
| 6 | g.129465215C= | CA1663192641 | LAMA2 | c.7226C= (p.Ala2409=) c.7490C= (p.Ala2497=) n.857C= c.7223C= (p.Ala2408=) c.7484C= (p.Ala2495=) c.7496C= (p.Ala2499=) c.5621C= (p.Ala1874=) | |
| 6 | g.129465215C>G | CA365621859 | LAMA2 | c.7226C>G (p.Ala2409Gly) c.7490C>G (p.Ala2497Gly) n.857C>G c.7223C>G (p.Ala2408Gly) c.7484C>G (p.Ala2495Gly) c.7496C>G (p.Ala2499Gly) c.5621C>G (p.Ala1874Gly) | gnomAD v4 |
| 6 | g.129465215C>T | CA365621861 | LAMA2 | c.7226C>T (p.Ala2409Val) c.7490C>T (p.Ala2497Val) n.857C>T c.7223C>T (p.Ala2408Val) c.7484C>T (p.Ala2495Val) c.7496C>T (p.Ala2499Val) c.5621C>T (p.Ala1874Val) | dbSNP gnomAD v4 |
| 6 | g.129465216T>A | CA451926455 | LAMA2 | c.7227T>A (p.Ala2409=) c.7491T>A (p.Ala2497=) n.858T>A c.7224T>A (p.Ala2408=) c.7485T>A (p.Ala2495=) c.7497T>A (p.Ala2499=) c.5622T>A (p.Ala1874=) | |
| 6 | g.129465216T>C | CA451926456 | LAMA2 | c.7227T>C (p.Ala2409=) c.7491T>C (p.Ala2497=) n.858T>C c.7224T>C (p.Ala2408=) c.7485T>C (p.Ala2495=) c.7497T>C (p.Ala2499=) c.5622T>C (p.Ala1874=) | |
| 6 | g.129465216T>G | CA451926457 | LAMA2 | c.7227T>G (p.Ala2409=) c.7491T>G (p.Ala2497=) n.858T>G c.7224T>G (p.Ala2408=) c.7485T>G (p.Ala2495=) c.7497T>G (p.Ala2499=) c.5622T>G (p.Ala1874=) | |
| 6 | g.129465217T>A | CA365621868 | LAMA2 | c.7228T>A (p.Ser2410Thr) c.7492T>A (p.Ser2498Thr) n.859T>A c.7225T>A (p.Ser2409Thr) c.7486T>A (p.Ser2496Thr) c.7498T>A (p.Ser2500Thr) c.5623T>A (p.Ser1875Thr) | |
| 6 | g.129465217T>C | CA365621875 | LAMA2 | c.7228T>C (p.Ser2410Pro) c.7492T>C (p.Ser2498Pro) n.859T>C c.7225T>C (p.Ser2409Pro) c.7486T>C (p.Ser2496Pro) c.7498T>C (p.Ser2500Pro) c.5623T>C (p.Ser1875Pro) | |
| 6 | g.129465217T>G | CA365621878 | LAMA2 | c.7228T>G (p.Ser2410Ala) c.7492T>G (p.Ser2498Ala) n.859T>G c.7225T>G (p.Ser2409Ala) c.7486T>G (p.Ser2496Ala) c.7498T>G (p.Ser2500Ala) c.5623T>G (p.Ser1875Ala) | |
| 6 | g.129465218C>A | CA365621881 | LAMA2 | c.7229C>A (p.Ser2410Tyr) c.7493C>A (p.Ser2498Tyr) n.860C>A c.7226C>A (p.Ser2409Tyr) c.7487C>A (p.Ser2496Tyr) c.7499C>A (p.Ser2500Tyr) c.5624C>A (p.Ser1875Tyr) | |
| 6 | g.129465218C>G | CA365621882 | LAMA2 | c.7229C>G (p.Ser2410Cys) c.7493C>G (p.Ser2498Cys) n.860C>G c.7226C>G (p.Ser2409Cys) c.7487C>G (p.Ser2496Cys) c.7499C>G (p.Ser2500Cys) c.5624C>G (p.Ser1875Cys) | |
| 6 | g.129465218C>T | CA365621885 | LAMA2 | c.7229C>T (p.Ser2410Phe) c.7493C>T (p.Ser2498Phe) n.860C>T c.7226C>T (p.Ser2409Phe) c.7487C>T (p.Ser2496Phe) c.7499C>T (p.Ser2500Phe) c.5624C>T (p.Ser1875Phe) | |
| 6 | g.129465219C>A | CA451926458 | LAMA2 | c.7230C>A (p.Ser2410=) c.7494C>A (p.Ser2498=) n.861C>A c.7227C>A (p.Ser2409=) c.7488C>A (p.Ser2496=) c.7500C>A (p.Ser2500=) c.5625C>A (p.Ser1875=) | gnomAD v4 |
| 6 | g.129465219C= | CA1663192643 | LAMA2 | c.7230C= (p.Ser2410=) c.7494C= (p.Ser2498=) n.861C= c.7227C= (p.Ser2409=) c.7488C= (p.Ser2496=) c.7500C= (p.Ser2500=) c.5625C= (p.Ser1875=) | |
| 6 | g.129465219C>G | CA451926459 | LAMA2 | c.7230C>G (p.Ser2410=) c.7494C>G (p.Ser2498=) n.861C>G c.7227C>G (p.Ser2409=) c.7488C>G (p.Ser2496=) c.7500C>G (p.Ser2500=) c.5625C>G (p.Ser1875=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465219C>T | CA3994488 | LAMA2 | c.7230C>T (p.Ser2410=) c.7494C>T (p.Ser2498=) n.861C>T c.7227C>T (p.Ser2409=) c.7488C>T (p.Ser2496=) c.7500C>T (p.Ser2500=) c.5625C>T (p.Ser1875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465219_129465220insT | CA645547602 | LAMA2 | c.7230_7231insT (p.Val2411CysfsTer8) c.7494_7495insT (p.Val2499CysfsTer8) n.861_862insT c.7227_7228insT (p.Val2410CysfsTer8) c.7488_7489insT (p.Val2497CysfsTer8) c.7500_7501insT (p.Val2501CysfsTer8) c.5625_5626insT (p.Val1876CysfsTer8) | COSMIC |
| 6 | g.129465220G>A | CA3994489 | LAMA2 | c.7231G>A (p.Val2411Ile) c.7495G>A (p.Val2499Ile) n.862G>A c.7228G>A (p.Val2410Ile) c.7489G>A (p.Val2497Ile) c.7501G>A (p.Val2501Ile) c.5626G>A (p.Val1876Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465220G>C | CA365621890 | LAMA2 | c.7231G>C (p.Val2411Leu) c.7495G>C (p.Val2499Leu) n.862G>C c.7228G>C (p.Val2410Leu) c.7489G>C (p.Val2497Leu) c.7501G>C (p.Val2501Leu) c.5626G>C (p.Val1876Leu) | |
| 6 | g.129465220G= | CA1663192644 | LAMA2 | c.7231G= (p.Val2411=) c.7495G= (p.Val2499=) n.862G= c.7228G= (p.Val2410=) c.7489G= (p.Val2497=) c.7501G= (p.Val2501=) c.5626G= (p.Val1876=) | |
| 6 | g.129465220G>T | CA365621889 | LAMA2 | c.7231G>T (p.Val2411Phe) c.7495G>T (p.Val2499Phe) n.862G>T c.7228G>T (p.Val2410Phe) c.7489G>T (p.Val2497Phe) c.7501G>T (p.Val2501Phe) c.5626G>T (p.Val1876Phe) | |
| 6 | g.129465221T>A | CA365621900 | LAMA2 | c.7232T>A (p.Val2411Asp) c.7496T>A (p.Val2499Asp) n.863T>A c.7229T>A (p.Val2410Asp) c.7490T>A (p.Val2497Asp) c.7502T>A (p.Val2501Asp) c.5627T>A (p.Val1876Asp) | |
| 6 | g.129465221T>C | CA365621903 | LAMA2 | c.7232T>C (p.Val2411Ala) c.7496T>C (p.Val2499Ala) n.863T>C c.7229T>C (p.Val2410Ala) c.7490T>C (p.Val2497Ala) c.7502T>C (p.Val2501Ala) c.5627T>C (p.Val1876Ala) | |
| 6 | g.129465221T>G | CA365621905 | LAMA2 | c.7232T>G (p.Val2411Gly) c.7496T>G (p.Val2499Gly) n.863T>G c.7229T>G (p.Val2410Gly) c.7490T>G (p.Val2497Gly) c.7502T>G (p.Val2501Gly) c.5627T>G (p.Val1876Gly) | |
| 6 | g.129465222dup | CA451926460 | LAMA2 | c.7233dup (p.Val2412CysfsTer7) c.7497dup (p.Val2500CysfsTer7) n.864dup c.7230dup (p.Val2411CysfsTer7) c.7491dup (p.Val2498CysfsTer7) c.7503dup (p.Val2502CysfsTer7) c.5628dup (p.Val1877CysfsTer7) | |
| 6 | g.129465222T>A | CA451926462 | LAMA2 | c.7233T>A (p.Val2411=) c.7497T>A (p.Val2499=) n.864T>A c.7230T>A (p.Val2410=) c.7491T>A (p.Val2497=) c.7503T>A (p.Val2501=) c.5628T>A (p.Val1876=) | |
| 6 | g.129465222T>C | CA3994490 | LAMA2 | c.7233T>C (p.Val2411=) c.7497T>C (p.Val2499=) n.864T>C c.7230T>C (p.Val2410=) c.7491T>C (p.Val2497=) c.7503T>C (p.Val2501=) c.5628T>C (p.Val1876=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465222T>G | CA451926461 | LAMA2 | c.7233T>G (p.Val2411=) c.7497T>G (p.Val2499=) n.864T>G c.7230T>G (p.Val2410=) c.7491T>G (p.Val2497=) c.7503T>G (p.Val2501=) c.5628T>G (p.Val1876=) | |
| 6 | g.129465222T= | CA1663192646 | LAMA2 | c.7233T= (p.Val2411=) c.7497T= (p.Val2499=) n.864T= c.7230T= (p.Val2410=) c.7491T= (p.Val2497=) c.7503T= (p.Val2501=) c.5628T= (p.Val1876=) | |
| 6 | g.129465223G>A | CA146892144 | LAMA2 | c.7234G>A (p.Val2412Ile) c.7498G>A (p.Val2500Ile) n.865G>A c.7231G>A (p.Val2411Ile) c.7492G>A (p.Val2498Ile) c.7504G>A (p.Val2502Ile) c.5629G>A (p.Val1877Ile) | dbSNP |
| 6 | g.129465223G>C | CA365621911 | LAMA2 | c.7234G>C (p.Val2412Leu) c.7498G>C (p.Val2500Leu) n.865G>C c.7231G>C (p.Val2411Leu) c.7492G>C (p.Val2498Leu) c.7504G>C (p.Val2502Leu) c.5629G>C (p.Val1877Leu) | |
| 6 | g.129465223G= | CA1663192648 | LAMA2 | c.7234G= (p.Val2412=) c.7498G= (p.Val2500=) n.865G= c.7231G= (p.Val2411=) c.7492G= (p.Val2498=) c.7504G= (p.Val2502=) c.5629G= (p.Val1877=) | |
| 6 | g.129465223G>T | CA365621913 | LAMA2 | c.7234G>T (p.Val2412Phe) c.7498G>T (p.Val2500Phe) n.865G>T c.7231G>T (p.Val2411Phe) c.7492G>T (p.Val2498Phe) c.7504G>T (p.Val2502Phe) c.5629G>T (p.Val1877Phe) | |
| 6 | g.129465224T>A | CA365621917 | LAMA2 | c.7235T>A (p.Val2412Asp) c.7499T>A (p.Val2500Asp) n.866T>A c.7232T>A (p.Val2411Asp) c.7493T>A (p.Val2498Asp) c.7505T>A (p.Val2502Asp) c.5630T>A (p.Val1877Asp) | |
| 6 | g.129465224T>C | CA365621920 | LAMA2 | c.7235T>C (p.Val2412Ala) c.7499T>C (p.Val2500Ala) n.866T>C c.7232T>C (p.Val2411Ala) c.7493T>C (p.Val2498Ala) c.7505T>C (p.Val2502Ala) c.5630T>C (p.Val1877Ala) | |
| 6 | g.129465224T>G | CA365621922 | LAMA2 | c.7235T>G (p.Val2412Gly) c.7499T>G (p.Val2500Gly) n.866T>G c.7232T>G (p.Val2411Gly) c.7493T>G (p.Val2498Gly) c.7505T>G (p.Val2502Gly) c.5630T>G (p.Val1877Gly) | |
| 6 | g.129465225C>A | CA451926466 | LAMA2 | c.7236C>A (p.Val2412=) c.7500C>A (p.Val2500=) n.867C>A c.7233C>A (p.Val2411=) c.7494C>A (p.Val2498=) c.7506C>A (p.Val2502=) c.5631C>A (p.Val1877=) | |
| 6 | g.129465225C= | CA1663192650 | LAMA2 | c.7236C= (p.Val2412=) c.7500C= (p.Val2500=) n.867C= c.7233C= (p.Val2411=) c.7494C= (p.Val2498=) c.7506C= (p.Val2502=) c.5631C= (p.Val1877=) | |
| 6 | g.129465225C>G | CA451926467 | LAMA2 | c.7236C>G (p.Val2412=) c.7500C>G (p.Val2500=) n.867C>G c.7233C>G (p.Val2411=) c.7494C>G (p.Val2498=) c.7506C>G (p.Val2502=) c.5631C>G (p.Val1877=) | |
| 6 | g.129465225C>T | CA451926468 | LAMA2 | c.7236C>T (p.Val2412=) c.7500C>T (p.Val2500=) n.867C>T c.7233C>T (p.Val2411=) c.7494C>T (p.Val2498=) c.7506C>T (p.Val2502=) c.5631C>T (p.Val1877=) | dbSNP gnomAD v2 |
| 6 | g.129465226A>C | CA365621925 | LAMA2 | c.7237A>C (p.Ser2413Arg) c.7501A>C (p.Ser2501Arg) n.868A>C c.7234A>C (p.Ser2412Arg) c.7495A>C (p.Ser2499Arg) c.7507A>C (p.Ser2503Arg) c.5632A>C (p.Ser1878Arg) | |
| 6 | g.129465226A>G | CA365621927 | LAMA2 | c.7237A>G (p.Ser2413Gly) c.7501A>G (p.Ser2501Gly) n.868A>G c.7234A>G (p.Ser2412Gly) c.7495A>G (p.Ser2499Gly) c.7507A>G (p.Ser2503Gly) c.5632A>G (p.Ser1878Gly) | |
| 6 | g.129465226A>T | CA365621928 | LAMA2 | c.7237A>T (p.Ser2413Cys) c.7501A>T (p.Ser2501Cys) n.868A>T c.7234A>T (p.Ser2412Cys) c.7495A>T (p.Ser2499Cys) c.7507A>T (p.Ser2503Cys) c.5632A>T (p.Ser1878Cys) | |
| 6 | g.129465227G>A | CA365621929 | LAMA2 | c.7238G>A (p.Ser2413Asn) c.7502G>A (p.Ser2501Asn) n.869G>A c.7235G>A (p.Ser2412Asn) c.7496G>A (p.Ser2499Asn) c.7508G>A (p.Ser2503Asn) c.5633G>A (p.Ser1878Asn) | gnomAD v4 |
| 6 | g.129465227G>C | CA365621931 | LAMA2 | c.7238G>C (p.Ser2413Thr) c.7502G>C (p.Ser2501Thr) n.869G>C c.7235G>C (p.Ser2412Thr) c.7496G>C (p.Ser2499Thr) c.7508G>C (p.Ser2503Thr) c.5633G>C (p.Ser1878Thr) | |
| 6 | g.129465227G>T | CA365621935 | LAMA2 | c.7238G>T (p.Ser2413Ile) c.7502G>T (p.Ser2501Ile) n.869G>T c.7235G>T (p.Ser2412Ile) c.7496G>T (p.Ser2499Ile) c.7508G>T (p.Ser2503Ile) c.5633G>T (p.Ser1878Ile) | |
| 6 | g.129465228C>A | CA365621937 | LAMA2 | c.7239C>A (p.Ser2413Arg) c.7503C>A (p.Ser2501Arg) n.870C>A c.7236C>A (p.Ser2412Arg) c.7497C>A (p.Ser2499Arg) c.7509C>A (p.Ser2503Arg) c.5634C>A (p.Ser1878Arg) | |
| 6 | g.129465228C= | CA1663192652 | LAMA2 | c.7239C= (p.Ser2413=) c.7503C= (p.Ser2501=) n.870C= c.7236C= (p.Ser2412=) c.7497C= (p.Ser2499=) c.7509C= (p.Ser2503=) c.5634C= (p.Ser1878=) | |
| 6 | g.129465228C>G | CA365621939 | LAMA2 | c.7239C>G (p.Ser2413Arg) c.7503C>G (p.Ser2501Arg) n.870C>G c.7236C>G (p.Ser2412Arg) c.7497C>G (p.Ser2499Arg) c.7509C>G (p.Ser2503Arg) c.5634C>G (p.Ser1878Arg) | |
| 6 | g.129465228C>T | CA146892163 | LAMA2 | c.7239C>T (p.Ser2413=) c.7503C>T (p.Ser2501=) n.870C>T c.7236C>T (p.Ser2412=) c.7497C>T (p.Ser2499=) c.7509C>T (p.Ser2503=) c.5634C>T (p.Ser1878=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465229A>C | CA365621947 | LAMA2 | c.7240A>C (p.Asn2414His) c.7504A>C (p.Asn2502His) n.871A>C c.7237A>C (p.Asn2413His) c.7498A>C (p.Asn2500His) c.7510A>C (p.Asn2504His) c.5635A>C (p.Asn1879His) | gnomAD v4 |
| 6 | g.129465229A>G | CA365621942 | LAMA2 | c.7240A>G (p.Asn2414Asp) c.7504A>G (p.Asn2502Asp) n.871A>G c.7237A>G (p.Asn2413Asp) c.7498A>G (p.Asn2500Asp) c.7510A>G (p.Asn2504Asp) c.5635A>G (p.Asn1879Asp) | |
| 6 | g.129465229A>T | CA365621945 | LAMA2 | c.7240A>T (p.Asn2414Tyr) c.7504A>T (p.Asn2502Tyr) n.871A>T c.7237A>T (p.Asn2413Tyr) c.7498A>T (p.Asn2500Tyr) c.7510A>T (p.Asn2504Tyr) c.5635A>T (p.Asn1879Tyr) | |
| 6 | g.129465230A= | CA1663192654 | LAMA2 | c.7241A= (p.Asn2414=) c.7505A= (p.Asn2502=) n.872A= c.7238A= (p.Asn2413=) c.7499A= (p.Asn2500=) c.7511A= (p.Asn2504=) c.5636A= (p.Asn1879=) | |
| 6 | g.129465230A>C | CA365621948 | LAMA2 | c.7241A>C (p.Asn2414Thr) c.7505A>C (p.Asn2502Thr) n.872A>C c.7238A>C (p.Asn2413Thr) c.7499A>C (p.Asn2500Thr) c.7511A>C (p.Asn2504Thr) c.5636A>C (p.Asn1879Thr) | |
| 6 | g.129465230A>G | CA146892168 | LAMA2 | c.7241A>G (p.Asn2414Ser) c.7505A>G (p.Asn2502Ser) n.872A>G c.7238A>G (p.Asn2413Ser) c.7499A>G (p.Asn2500Ser) c.7511A>G (p.Asn2504Ser) c.5636A>G (p.Asn1879Ser) | dbSNP |
| 6 | g.129465230A>T | CA365621952 | LAMA2 | c.7241A>T (p.Asn2414Ile) c.7505A>T (p.Asn2502Ile) n.872A>T c.7238A>T (p.Asn2413Ile) c.7499A>T (p.Asn2500Ile) c.7511A>T (p.Asn2504Ile) c.5636A>T (p.Asn1879Ile) | |
| 6 | g.129465231T>A | CA365621955 | LAMA2 | c.7242T>A (p.Asn2414Lys) c.7506T>A (p.Asn2502Lys) n.873T>A c.7239T>A (p.Asn2413Lys) c.7500T>A (p.Asn2500Lys) c.7512T>A (p.Asn2504Lys) c.5637T>A (p.Asn1879Lys) | |
| 6 | g.129465231T>C | CA451926469 | LAMA2 | c.7242T>C (p.Asn2414=) c.7506T>C (p.Asn2502=) n.873T>C c.7239T>C (p.Asn2413=) c.7500T>C (p.Asn2500=) c.7512T>C (p.Asn2504=) c.5637T>C (p.Asn1879=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465231T>G | CA365621957 | LAMA2 | c.7242T>G (p.Asn2414Lys) c.7506T>G (p.Asn2502Lys) n.873T>G c.7239T>G (p.Asn2413Lys) c.7500T>G (p.Asn2500Lys) c.7512T>G (p.Asn2504Lys) c.5637T>G (p.Asn1879Lys) | |
| 6 | g.129465231T= | CA1663192656 | LAMA2 | c.7242T= (p.Asn2414=) c.7506T= (p.Asn2502=) n.873T= c.7239T= (p.Asn2413=) c.7500T= (p.Asn2500=) c.7512T= (p.Asn2504=) c.5637T= (p.Asn1879=) | |
| 6 | g.129465232C>A | CA365621962 | LAMA2 | c.7243C>A (p.Gln2415Lys) c.7507C>A (p.Gln2503Lys) n.874C>A c.7240C>A (p.Gln2414Lys) c.7501C>A (p.Gln2501Lys) c.7513C>A (p.Gln2505Lys) c.5638C>A (p.Gln1880Lys) | gnomAD v4 |
| 6 | g.129465232C>G | CA365621960 | LAMA2 | c.7243C>G (p.Gln2415Glu) c.7507C>G (p.Gln2503Glu) n.874C>G c.7240C>G (p.Gln2414Glu) c.7501C>G (p.Gln2501Glu) c.7513C>G (p.Gln2505Glu) c.5638C>G (p.Gln1880Glu) | |
| 6 | g.129465232C>T | CA365621959 | LAMA2 | c.7243C>T (p.Gln2415Ter) c.7507C>T (p.Gln2503Ter) n.874C>T c.7240C>T (p.Gln2414Ter) c.7501C>T (p.Gln2501Ter) c.7513C>T (p.Gln2505Ter) c.5638C>T (p.Gln1880Ter) | |
| 6 | g.129465233A= | CA1663192658 | LAMA2 | c.7244A= (p.Gln2415=) c.7508A= (p.Gln2503=) n.875A= c.7241A= (p.Gln2414=) c.7502A= (p.Gln2501=) c.7514A= (p.Gln2505=) c.5639A= (p.Gln1880=) | |
| 6 | g.129465233A>C | CA365621964 | LAMA2 | c.7244A>C (p.Gln2415Pro) c.7508A>C (p.Gln2503Pro) n.875A>C c.7241A>C (p.Gln2414Pro) c.7502A>C (p.Gln2501Pro) c.7514A>C (p.Gln2505Pro) c.5639A>C (p.Gln1880Pro) | |
| 6 | g.129465233A>G | CA3994491 | LAMA2 | c.7244A>G (p.Gln2415Arg) c.7508A>G (p.Gln2503Arg) n.875A>G c.7241A>G (p.Gln2414Arg) c.7502A>G (p.Gln2501Arg) c.7514A>G (p.Gln2505Arg) c.5639A>G (p.Gln1880Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.129465233A>T | CA365621966 | LAMA2 | c.7244A>T (p.Gln2415Leu) c.7508A>T (p.Gln2503Leu) n.875A>T c.7241A>T (p.Gln2414Leu) c.7502A>T (p.Gln2501Leu) c.7514A>T (p.Gln2505Leu) c.5639A>T (p.Gln1880Leu) | |
| 6 | g.129465234A= | CA1663192660 | LAMA2 | c.7245A= (p.Gln2415=) c.7509A= (p.Gln2503=) n.876A= c.7242A= (p.Gln2414=) c.7503A= (p.Gln2501=) c.7515A= (p.Gln2505=) c.5640A= (p.Gln1880=) | |
| 6 | g.129465234A>C | CA365621967 | LAMA2 | c.7245A>C (p.Gln2415His) c.7509A>C (p.Gln2503His) n.876A>C c.7242A>C (p.Gln2414His) c.7503A>C (p.Gln2501His) c.7515A>C (p.Gln2505His) c.5640A>C (p.Gln1880His) | ClinVar dbSNP |
| 6 | g.129465234A>G | CA146892178 | LAMA2 | c.7245A>G (p.Gln2415=) c.7509A>G (p.Gln2503=) n.876A>G c.7242A>G (p.Gln2414=) c.7503A>G (p.Gln2501=) c.7515A>G (p.Gln2505=) c.5640A>G (p.Gln1880=) | dbSNP |
| 6 | g.129465234A>T | CA365621970 | LAMA2 | c.7245A>T (p.Gln2415His) c.7509A>T (p.Gln2503His) n.876A>T c.7242A>T (p.Gln2414His) c.7503A>T (p.Gln2501His) c.7515A>T (p.Gln2505His) c.5640A>T (p.Gln1880His) | |
| 6 | g.129465235A>C | CA365621976 | LAMA2 | c.7246A>C (p.Asn2416His) c.7510A>C (p.Asn2504His) n.877A>C c.7243A>C (p.Asn2415His) c.7504A>C (p.Asn2502His) c.7516A>C (p.Asn2506His) c.5641A>C (p.Asn1881His) | |
| 6 | g.129465235A>G | CA365621972 | LAMA2 | c.7246A>G (p.Asn2416Asp) c.7510A>G (p.Asn2504Asp) n.877A>G c.7243A>G (p.Asn2415Asp) c.7504A>G (p.Asn2502Asp) c.7516A>G (p.Asn2506Asp) c.5641A>G (p.Asn1881Asp) | |
| 6 | g.129465235A>T | CA365621973 | LAMA2 | c.7246A>T (p.Asn2416Tyr) c.7510A>T (p.Asn2504Tyr) n.877A>T c.7243A>T (p.Asn2415Tyr) c.7504A>T (p.Asn2502Tyr) c.7516A>T (p.Asn2506Tyr) c.5641A>T (p.Asn1881Tyr) | |
| 6 | g.129465236A>C | CA365621977 | LAMA2 | c.7247A>C (p.Asn2416Thr) c.7511A>C (p.Asn2504Thr) n.878A>C c.7244A>C (p.Asn2415Thr) c.7505A>C (p.Asn2502Thr) c.7517A>C (p.Asn2506Thr) c.5642A>C (p.Asn1881Thr) | |
| 6 | g.129465236A>G | CA365621978 | LAMA2 | c.7247A>G (p.Asn2416Ser) c.7511A>G (p.Asn2504Ser) n.878A>G c.7244A>G (p.Asn2415Ser) c.7505A>G (p.Asn2502Ser) c.7517A>G (p.Asn2506Ser) c.5642A>G (p.Asn1881Ser) | |
| 6 | g.129465236A>T | CA365621980 | LAMA2 | c.7247A>T (p.Asn2416Ile) c.7511A>T (p.Asn2504Ile) n.878A>T c.7244A>T (p.Asn2415Ile) c.7505A>T (p.Asn2502Ile) c.7517A>T (p.Asn2506Ile) c.5642A>T (p.Asn1881Ile) | |
| 6 | g.129465237C>A | CA365621988 | LAMA2 | c.7248C>A (p.Asn2416Lys) c.7512C>A (p.Asn2504Lys) n.879C>A c.7245C>A (p.Asn2415Lys) c.7506C>A (p.Asn2502Lys) c.7518C>A (p.Asn2506Lys) c.5643C>A (p.Asn1881Lys) | |
| 6 | g.129465237C>G | CA365621993 | LAMA2 | c.7248C>G (p.Asn2416Lys) c.7512C>G (p.Asn2504Lys) n.879C>G c.7245C>G (p.Asn2415Lys) c.7506C>G (p.Asn2502Lys) c.7518C>G (p.Asn2506Lys) c.5643C>G (p.Asn1881Lys) | |
| 6 | g.129465237C>T | CA451926470 | LAMA2 | c.7248C>T (p.Asn2416=) c.7512C>T (p.Asn2504=) n.879C>T c.7245C>T (p.Asn2415=) c.7506C>T (p.Asn2502=) c.7518C>T (p.Asn2506=) c.5643C>T (p.Asn1881=) | gnomAD v4 |
| 6 | g.129465238C>A | CA365621995 | LAMA2 | c.7249C>A (p.His2417Asn) c.7513C>A (p.His2505Asn) n.880C>A c.7246C>A (p.His2416Asn) c.7507C>A (p.His2503Asn) c.7519C>A (p.His2507Asn) c.5644C>A (p.His1882Asn) | |
| 6 | g.129465238C>G | CA365621996 | LAMA2 | c.7249C>G (p.His2417Asp) c.7513C>G (p.His2505Asp) n.880C>G c.7246C>G (p.His2416Asp) c.7507C>G (p.His2503Asp) c.7519C>G (p.His2507Asp) c.5644C>G (p.His1882Asp) | gnomAD v3 gnomAD v4 |
| 6 | g.129465238C>T | CA365621998 | LAMA2 | c.7249C>T (p.His2417Tyr) c.7513C>T (p.His2505Tyr) n.880C>T c.7246C>T (p.His2416Tyr) c.7507C>T (p.His2503Tyr) c.7519C>T (p.His2507Tyr) c.5644C>T (p.His1882Tyr) | |
| 6 | g.129465239A= | CA1663192662 | LAMA2 | c.7250A= (p.His2417=) c.7514A= (p.His2505=) n.881A= c.7247A= (p.His2416=) c.7508A= (p.His2503=) c.7520A= (p.His2507=) c.5645A= (p.His1882=) | |
| 6 | g.129465239A>C | CA365622000 | LAMA2 | c.7250A>C (p.His2417Pro) c.7514A>C (p.His2505Pro) n.881A>C c.7247A>C (p.His2416Pro) c.7508A>C (p.His2503Pro) c.7520A>C (p.His2507Pro) c.5645A>C (p.His1882Pro) | |
| 6 | g.129465239A>G | CA295398 | LAMA2 | c.7250A>G (p.His2417Arg) c.7514A>G (p.His2505Arg) n.881A>G c.7247A>G (p.His2416Arg) c.7508A>G (p.His2503Arg) c.7520A>G (p.His2507Arg) c.5645A>G (p.His1882Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465239A>T | CA365622004 | LAMA2 | c.7250A>T (p.His2417Leu) c.7514A>T (p.His2505Leu) n.881A>T c.7247A>T (p.His2416Leu) c.7508A>T (p.His2503Leu) c.7520A>T (p.His2507Leu) c.5645A>T (p.His1882Leu) | |
| 6 | g.129465240T>A | CA365622007 | LAMA2 | c.7251T>A (p.His2417Gln) c.7515T>A (p.His2505Gln) n.882T>A c.7248T>A (p.His2416Gln) c.7509T>A (p.His2503Gln) c.7521T>A (p.His2507Gln) c.5646T>A (p.His1882Gln) | |
| 6 | g.129465240T>C | CA451926471 | LAMA2 | c.7251T>C (p.His2417=) c.7515T>C (p.His2505=) n.882T>C c.7248T>C (p.His2416=) c.7509T>C (p.His2503=) c.7521T>C (p.His2507=) c.5646T>C (p.His1882=) | ClinVar |
| 6 | g.129465240T>G | CA365622010 | LAMA2 | c.7251T>G (p.His2417Gln) c.7515T>G (p.His2505Gln) n.882T>G c.7248T>G (p.His2416Gln) c.7509T>G (p.His2503Gln) c.7521T>G (p.His2507Gln) c.5646T>G (p.His1882Gln) | |
| 6 | g.129465241A>C | CA365622017 | LAMA2 | c.7252A>C (p.Asn2418His) c.7516A>C (p.Asn2506His) n.883A>C c.7249A>C (p.Asn2417His) c.7510A>C (p.Asn2504His) c.7522A>C (p.Asn2508His) c.5647A>C (p.Asn1883His) | |
| 6 | g.129465241A>G | CA365622013 | LAMA2 | c.7252A>G (p.Asn2418Asp) c.7516A>G (p.Asn2506Asp) n.883A>G c.7249A>G (p.Asn2417Asp) c.7510A>G (p.Asn2504Asp) c.7522A>G (p.Asn2508Asp) c.5647A>G (p.Asn1883Asp) | |
| 6 | g.129465241A>T | CA365622015 | LAMA2 | c.7252A>T (p.Asn2418Tyr) c.7516A>T (p.Asn2506Tyr) n.883A>T c.7249A>T (p.Asn2417Tyr) c.7510A>T (p.Asn2504Tyr) c.7522A>T (p.Asn2508Tyr) c.5647A>T (p.Asn1883Tyr) | |
| 6 | g.129465241_129465242insCACACCCAACAC | CA2773038003 | LAMA2 | c.7252_7253insCACACCCAACAC (p.Asn2418delinsThrHisProThrHis) c.7516_7517insCACACCCAACAC (p.Asn2506delinsThrHisProThrHis) n.883_884insCACACCCAACAC c.7249_7250insCACACCCAACAC (p.Asn2417delinsThrHisProThrHis) c.7510_7511insCACACCCAACAC (p.Asn2504delinsThrHisProThrHis) c.7522_7523insCACACCCAACAC (p.Asn2508delinsThrHisProThrHis) c.5647_5648insCACACCCAACAC (p.Asn1883delinsThrHisProThrHis) | |
| 6 | g.129465242A>C | CA365622018 | LAMA2 | c.7253A>C (p.Asn2418Thr) c.7517A>C (p.Asn2506Thr) n.884A>C c.7250A>C (p.Asn2417Thr) c.7511A>C (p.Asn2504Thr) c.7523A>C (p.Asn2508Thr) c.5648A>C (p.Asn1883Thr) | |
| 6 | g.129465242A>G | CA365622019 | LAMA2 | c.7253A>G (p.Asn2418Ser) c.7517A>G (p.Asn2506Ser) n.884A>G c.7250A>G (p.Asn2417Ser) c.7511A>G (p.Asn2504Ser) c.7523A>G (p.Asn2508Ser) c.5648A>G (p.Asn1883Ser) | |
| 6 | g.129465242A>T | CA365622020 | LAMA2 | c.7253A>T (p.Asn2418Ile) c.7517A>T (p.Asn2506Ile) n.884A>T c.7250A>T (p.Asn2417Ile) c.7511A>T (p.Asn2504Ile) c.7523A>T (p.Asn2508Ile) c.5648A>T (p.Asn1883Ile) | |
| 6 | g.129465243T>A | CA365622022 | LAMA2 | c.7254T>A (p.Asn2418Lys) c.7518T>A (p.Asn2506Lys) n.885T>A c.7251T>A (p.Asn2417Lys) c.7512T>A (p.Asn2504Lys) c.7524T>A (p.Asn2508Lys) c.5649T>A (p.Asn1883Lys) | |
| 6 | g.129465243T>C | CA3994492 | LAMA2 | c.7254T>C (p.Asn2418=) c.7518T>C (p.Asn2506=) n.885T>C c.7251T>C (p.Asn2417=) c.7512T>C (p.Asn2504=) c.7524T>C (p.Asn2508=) c.5649T>C (p.Asn1883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129465243T>G | CA365622027 | LAMA2 | c.7254T>G (p.Asn2418Lys) c.7518T>G (p.Asn2506Lys) n.885T>G c.7251T>G (p.Asn2417Lys) c.7512T>G (p.Asn2504Lys) c.7524T>G (p.Asn2508Lys) c.5649T>G (p.Asn1883Lys) | |
| 6 | g.129465243T= | CA1663192668 | LAMA2 | c.7254T= (p.Asn2418=) c.7518T= (p.Asn2506=) n.885T= c.7251T= (p.Asn2417=) c.7512T= (p.Asn2504=) c.7524T= (p.Asn2508=) c.5649T= (p.Asn1883=) | |
| 6 | g.129465244G>A | CA365622034 | LAMA2 | c.7255G>A (p.Asp2419Asn) c.7519G>A (p.Asp2507Asn) n.886G>A c.7252G>A (p.Asp2418Asn) c.7513G>A (p.Asp2505Asn) c.7525G>A (p.Asp2509Asn) c.5650G>A (p.Asp1884Asn) | |
| 6 | g.129465244G>C | CA365622030 | LAMA2 | c.7255G>C (p.Asp2419His) c.7519G>C (p.Asp2507His) n.886G>C c.7252G>C (p.Asp2418His) c.7513G>C (p.Asp2505His) c.7525G>C (p.Asp2509His) c.5650G>C (p.Asp1884His) | |
| 6 | g.129465244G>T | CA365622031 | LAMA2 | c.7255G>T (p.Asp2419Tyr) c.7519G>T (p.Asp2507Tyr) n.886G>T c.7252G>T (p.Asp2418Tyr) c.7513G>T (p.Asp2505Tyr) c.7525G>T (p.Asp2509Tyr) c.5650G>T (p.Asp1884Tyr) | |
| 6 | g.129465245A= | CA1663192670 | LAMA2 | c.7256A= (p.Asp2419=) c.7520A= (p.Asp2507=) n.887A= c.7253A= (p.Asp2418=) c.7514A= (p.Asp2505=) c.7526A= (p.Asp2509=) c.5651A= (p.Asp1884=) | |
| 6 | g.129465245A>C | CA365622037 | LAMA2 | c.7256A>C (p.Asp2419Ala) c.7520A>C (p.Asp2507Ala) n.887A>C c.7253A>C (p.Asp2418Ala) c.7514A>C (p.Asp2505Ala) c.7526A>C (p.Asp2509Ala) c.5651A>C (p.Asp1884Ala) | |
| 6 | g.129465245A>G | CA365622039 | LAMA2 | c.7256A>G (p.Asp2419Gly) c.7520A>G (p.Asp2507Gly) n.887A>G c.7253A>G (p.Asp2418Gly) c.7514A>G (p.Asp2505Gly) c.7526A>G (p.Asp2509Gly) c.5651A>G (p.Asp1884Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129465245A>T | CA365622041 | LAMA2 | c.7256A>T (p.Asp2419Val) c.7520A>T (p.Asp2507Val) n.887A>T c.7253A>T (p.Asp2418Val) c.7514A>T (p.Asp2505Val) c.7526A>T (p.Asp2509Val) c.5651A>T (p.Asp1884Val) | COSMIC |
| 6 | g.129465246T>A | CA365622044 | LAMA2 | c.7257T>A (p.Asp2419Glu) c.7521T>A (p.Asp2507Glu) n.888T>A c.7254T>A (p.Asp2418Glu) c.7515T>A (p.Asp2505Glu) c.7527T>A (p.Asp2509Glu) c.5652T>A (p.Asp1884Glu) | |
| 6 | g.129465246T>C | CA451926472 | LAMA2 | c.7257T>C (p.Asp2419=) c.7521T>C (p.Asp2507=) n.888T>C c.7254T>C (p.Asp2418=) c.7515T>C (p.Asp2505=) c.7527T>C (p.Asp2509=) c.5652T>C (p.Asp1884=) | |
| 6 | g.129465246T>G | CA365622046 | LAMA2 | c.7257T>G (p.Asp2419Glu) c.7521T>G (p.Asp2507Glu) n.888T>G c.7254T>G (p.Asp2418Glu) c.7515T>G (p.Asp2505Glu) c.7527T>G (p.Asp2509Glu) c.5652T>G (p.Asp1884Glu) | |
| 6 | g.129465247G>A | CA365622049 | LAMA2 | c.7258G>A (p.Gly2420Arg) c.7522G>A (p.Gly2508Arg) n.889G>A c.7255G>A (p.Gly2419Arg) c.7516G>A (p.Gly2506Arg) c.7528G>A (p.Gly2510Arg) c.5653G>A (p.Gly1885Arg) | |
| 6 | g.129465247G>C | CA365622054 | LAMA2 | c.7258G>C (p.Gly2420Arg) c.7522G>C (p.Gly2508Arg) n.889G>C c.7255G>C (p.Gly2419Arg) c.7516G>C (p.Gly2506Arg) c.7528G>C (p.Gly2510Arg) c.5653G>C (p.Gly1885Arg) | |
| 6 | g.129465247G>T | CA365622051 | LAMA2 | c.7258G>T (p.Gly2420Trp) c.7522G>T (p.Gly2508Trp) n.889G>T c.7255G>T (p.Gly2419Trp) c.7516G>T (p.Gly2506Trp) c.7528G>T (p.Gly2510Trp) c.5653G>T (p.Gly1885Trp) | |
| 6 | g.129465248G>A | CA365622057 | LAMA2 | c.7259G>A (p.Gly2420Glu) c.7523G>A (p.Gly2508Glu) n.890G>A c.7256G>A (p.Gly2419Glu) c.7517G>A (p.Gly2506Glu) c.7529G>A (p.Gly2510Glu) c.5654G>A (p.Gly1885Glu) | |
| 6 | g.129465248G>C | CA365622059 | LAMA2 | c.7259G>C (p.Gly2420Ala) c.7523G>C (p.Gly2508Ala) n.890G>C c.7256G>C (p.Gly2419Ala) c.7517G>C (p.Gly2506Ala) c.7529G>C (p.Gly2510Ala) c.5654G>C (p.Gly1885Ala) | |
| 6 | g.129465248G>T | CA365622063 | LAMA2 | c.7259G>T (p.Gly2420Val) c.7523G>T (p.Gly2508Val) n.890G>T c.7256G>T (p.Gly2419Val) c.7517G>T (p.Gly2506Val) c.7529G>T (p.Gly2510Val) c.5654G>T (p.Gly1885Val) | |
| 6 | g.129465249G>A | CA451926473 | LAMA2 | c.7260G>A (p.Gly2420=) c.7524G>A (p.Gly2508=) n.891G>A c.7257G>A (p.Gly2419=) c.7518G>A (p.Gly2506=) c.7530G>A (p.Gly2510=) c.5655G>A (p.Gly1885=) | |
| 6 | g.129465249G>C | CA451926475 | LAMA2 | c.7260G>C (p.Gly2420=) c.7524G>C (p.Gly2508=) n.891G>C c.7257G>C (p.Gly2419=) c.7518G>C (p.Gly2506=) c.7530G>C (p.Gly2510=) c.5655G>C (p.Gly1885=) | |
| 6 | g.129465249G>T | CA451926474 | LAMA2 | c.7260G>T (p.Gly2420=) c.7524G>T (p.Gly2508=) n.891G>T c.7257G>T (p.Gly2419=) c.7518G>T (p.Gly2506=) c.7530G>T (p.Gly2510=) c.5655G>T (p.Gly1885=) | |
| 6 | g.129465250A>C | CA365622065 | LAMA2 | c.7261A>C (p.Lys2421Gln) c.7525A>C (p.Lys2509Gln) n.892A>C c.7258A>C (p.Lys2420Gln) c.7519A>C (p.Lys2507Gln) c.7531A>C (p.Lys2511Gln) c.5656A>C (p.Lys1886Gln) | |
| 6 | g.129465250A>G | CA365622066 | LAMA2 | c.7261A>G (p.Lys2421Glu) c.7525A>G (p.Lys2509Glu) n.892A>G c.7258A>G (p.Lys2420Glu) c.7519A>G (p.Lys2507Glu) c.7531A>G (p.Lys2511Glu) c.5656A>G (p.Lys1886Glu) | |
| 6 | g.129465250A>T | CA365622068 | LAMA2 | c.7261A>T (p.Lys2421Ter) c.7525A>T (p.Lys2509Ter) n.892A>T c.7258A>T (p.Lys2420Ter) c.7519A>T (p.Lys2507Ter) c.7531A>T (p.Lys2511Ter) c.5656A>T (p.Lys1886Ter) | |
| 6 | g.129465251A= | CA1663192673 | LAMA2 | c.7262A= (p.Lys2421=) c.7526A= (p.Lys2509=) n.893A= c.7259A= (p.Lys2420=) c.7520A= (p.Lys2507=) c.7532A= (p.Lys2511=) c.5657A= (p.Lys1886=) | |
| 6 | g.129465251A>C | CA365622073 | LAMA2 | c.7262A>C (p.Lys2421Thr) c.7526A>C (p.Lys2509Thr) n.893A>C c.7259A>C (p.Lys2420Thr) c.7520A>C (p.Lys2507Thr) c.7532A>C (p.Lys2511Thr) c.5657A>C (p.Lys1886Thr) | |
| 6 | g.129465251A>G | CA365622074 | LAMA2 | c.7262A>G (p.Lys2421Arg) c.7526A>G (p.Lys2509Arg) n.893A>G c.7259A>G (p.Lys2420Arg) c.7520A>G (p.Lys2507Arg) c.7532A>G (p.Lys2511Arg) c.5657A>G (p.Lys1886Arg) | ClinVar dbSNP |
| 6 | g.129465251A>T | CA365622076 | LAMA2 | c.7262A>T (p.Lys2421Ile) c.7526A>T (p.Lys2509Ile) n.893A>T c.7259A>T (p.Lys2420Ile) c.7520A>T (p.Lys2507Ile) c.7532A>T (p.Lys2511Ile) c.5657A>T (p.Lys1886Ile) | |
| 6 | g.129465252A>C | CA365622078 | LAMA2 | c.7263A>C (p.Lys2421Asn) c.7527A>C (p.Lys2509Asn) n.894A>C c.7260A>C (p.Lys2420Asn) c.7521A>C (p.Lys2507Asn) c.7533A>C (p.Lys2511Asn) c.5658A>C (p.Lys1886Asn) | |
| 6 | g.129465252A>G | CA451926476 | LAMA2 | c.7263A>G (p.Lys2421=) c.7527A>G (p.Lys2509=) n.894A>G c.7260A>G (p.Lys2420=) c.7521A>G (p.Lys2507=) c.7533A>G (p.Lys2511=) c.5658A>G (p.Lys1886=) | gnomAD v4 |
| 6 | g.129465252A>T | CA365622081 | LAMA2 | c.7263A>T (p.Lys2421Asn) c.7527A>T (p.Lys2509Asn) n.894A>T c.7260A>T (p.Lys2420Asn) c.7521A>T (p.Lys2507Asn) c.7533A>T (p.Lys2511Asn) c.5658A>T (p.Lys1886Asn) | |
| 6 | g.129465253T>A | CA365622084 | LAMA2 | c.7264T>A (p.Trp2422Arg) c.7528T>A (p.Trp2510Arg) n.895T>A c.7261T>A (p.Trp2421Arg) c.7522T>A (p.Trp2508Arg) c.7534T>A (p.Trp2512Arg) c.5659T>A (p.Trp1887Arg) | |
| 6 | g.129465253T>C | CA365622090 | LAMA2 | c.7264T>C (p.Trp2422Arg) c.7528T>C (p.Trp2510Arg) n.895T>C c.7261T>C (p.Trp2421Arg) c.7522T>C (p.Trp2508Arg) c.7534T>C (p.Trp2512Arg) c.5659T>C (p.Trp1887Arg) | gnomAD v4 |
| 6 | g.129465253T>G | CA365622086 | LAMA2 | c.7264T>G (p.Trp2422Gly) c.7528T>G (p.Trp2510Gly) n.895T>G c.7261T>G (p.Trp2421Gly) c.7522T>G (p.Trp2508Gly) c.7534T>G (p.Trp2512Gly) c.5659T>G (p.Trp1887Gly) | |
| 6 | g.129465254G>A | CA365622092 | LAMA2 | c.7265G>A (p.Trp2422Ter) c.7529G>A (p.Trp2510Ter) n.896G>A c.7262G>A (p.Trp2421Ter) c.7523G>A (p.Trp2508Ter) c.7535G>A (p.Trp2512Ter) c.5660G>A (p.Trp1887Ter) | ClinVar gnomAD v4 |
| 6 | g.129465254G>C | CA365622095 | LAMA2 | c.7265G>C (p.Trp2422Ser) c.7529G>C (p.Trp2510Ser) n.896G>C c.7262G>C (p.Trp2421Ser) c.7523G>C (p.Trp2508Ser) c.7535G>C (p.Trp2512Ser) c.5660G>C (p.Trp1887Ser) | |
| 6 | g.129465254G>T | CA365622096 | LAMA2 | c.7265G>T (p.Trp2422Leu) c.7529G>T (p.Trp2510Leu) n.896G>T c.7262G>T (p.Trp2421Leu) c.7523G>T (p.Trp2508Leu) c.7535G>T (p.Trp2512Leu) c.5660G>T (p.Trp1887Leu) | |
| 6 | g.129465255G>A | CA365622099 | LAMA2 | c.7266G>A (p.Trp2422Ter) c.7530G>A (p.Trp2510Ter) n.897G>A c.7263G>A (p.Trp2421Ter) c.7524G>A (p.Trp2508Ter) c.7536G>A (p.Trp2512Ter) c.5661G>A (p.Trp1887Ter) | ClinVar dbSNP |
| 6 | g.129465255G>C | CA365622101 | LAMA2 | c.7266G>C (p.Trp2422Cys) c.7530G>C (p.Trp2510Cys) n.897G>C c.7263G>C (p.Trp2421Cys) c.7524G>C (p.Trp2508Cys) c.7536G>C (p.Trp2512Cys) c.5661G>C (p.Trp1887Cys) | |
| 6 | g.129465255G= | CA1663192676 | LAMA2 | c.7266G= (p.Trp2422=) c.7530G= (p.Trp2510=) n.897G= c.7263G= (p.Trp2421=) c.7524G= (p.Trp2508=) c.7536G= (p.Trp2512=) c.5661G= (p.Trp1887=) | |
| 6 | g.129465255G>T | CA365622103 | LAMA2 | c.7266G>T (p.Trp2422Cys) c.7530G>T (p.Trp2510Cys) n.897G>T c.7263G>T (p.Trp2421Cys) c.7524G>T (p.Trp2508Cys) c.7536G>T (p.Trp2512Cys) c.5661G>T (p.Trp1887Cys) | |
| 6 | g.129465256A= | CA1663192678 | LAMA2 | c.7267A= (p.Lys2423=) c.7531A= (p.Lys2511=) n.898A= c.7264A= (p.Lys2422=) c.7525A= (p.Lys2509=) c.7537A= (p.Lys2513=) c.5662A= (p.Lys1888=) | |
| 6 | g.129465256A>C | CA365622104 | LAMA2 | c.7267A>C (p.Lys2423Gln) c.7531A>C (p.Lys2511Gln) n.898A>C c.7264A>C (p.Lys2422Gln) c.7525A>C (p.Lys2509Gln) c.7537A>C (p.Lys2513Gln) c.5662A>C (p.Lys1888Gln) | |
| 6 | g.129465256A>G | CA365622106 | LAMA2 | c.7267A>G (p.Lys2423Glu) c.7531A>G (p.Lys2511Glu) n.898A>G c.7264A>G (p.Lys2422Glu) c.7525A>G (p.Lys2509Glu) c.7537A>G (p.Lys2513Glu) c.5662A>G (p.Lys1888Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465256A>T | CA365622108 | LAMA2 | c.7267A>T (p.Lys2423Ter) c.7531A>T (p.Lys2511Ter) n.898A>T c.7264A>T (p.Lys2422Ter) c.7525A>T (p.Lys2509Ter) c.7537A>T (p.Lys2513Ter) c.5662A>T (p.Lys1888Ter) | |
| 6 | g.129465257A>C | CA365622111 | LAMA2 | c.7268A>C (p.Lys2423Thr) c.7532A>C (p.Lys2511Thr) n.899A>C c.7265A>C (p.Lys2422Thr) c.7526A>C (p.Lys2509Thr) c.7538A>C (p.Lys2513Thr) c.5663A>C (p.Lys1888Thr) | |
| 6 | g.129465257A>G | CA365622113 | LAMA2 | c.7268A>G (p.Lys2423Arg) c.7532A>G (p.Lys2511Arg) n.899A>G c.7265A>G (p.Lys2422Arg) c.7526A>G (p.Lys2509Arg) c.7538A>G (p.Lys2513Arg) c.5663A>G (p.Lys1888Arg) | |
| 6 | g.129465257A>T | CA365622115 | LAMA2 | c.7268A>T (p.Lys2423Ile) c.7532A>T (p.Lys2511Ile) n.899A>T c.7265A>T (p.Lys2422Ile) c.7526A>T (p.Lys2509Ile) c.7538A>T (p.Lys2513Ile) c.5663A>T (p.Lys1888Ile) | |
| 6 | g.129465258A>C | CA365622118 | LAMA2 | c.7269A>C (p.Lys2423Asn) c.7533A>C (p.Lys2511Asn) n.900A>C c.7266A>C (p.Lys2422Asn) c.7527A>C (p.Lys2509Asn) c.7539A>C (p.Lys2513Asn) c.5664A>C (p.Lys1888Asn) | |
| 6 | g.129465258A>G | CA451926477 | LAMA2 | c.7269A>G (p.Lys2423=) c.7533A>G (p.Lys2511=) n.900A>G c.7266A>G (p.Lys2422=) c.7527A>G (p.Lys2509=) c.7539A>G (p.Lys2513=) c.5664A>G (p.Lys1888=) | |
| 6 | g.129465258A>T | CA365622119 | LAMA2 | c.7269A>T (p.Lys2423Asn) c.7533A>T (p.Lys2511Asn) n.900A>T c.7266A>T (p.Lys2422Asn) c.7527A>T (p.Lys2509Asn) c.7539A>T (p.Lys2513Asn) c.5664A>T (p.Lys1888Asn) | |
| 6 | g.129465259T>A | CA365622123 | LAMA2 | c.7270T>A (p.Ser2424Thr) c.7534T>A (p.Ser2512Thr) n.901T>A c.7267T>A (p.Ser2423Thr) c.7528T>A (p.Ser2510Thr) c.7540T>A (p.Ser2514Thr) c.5665T>A (p.Ser1889Thr) | |
| 6 | g.129465259T>C | CA365622122 | LAMA2 | c.7270T>C (p.Ser2424Pro) c.7534T>C (p.Ser2512Pro) n.901T>C c.7267T>C (p.Ser2423Pro) c.7528T>C (p.Ser2510Pro) c.7540T>C (p.Ser2514Pro) c.5665T>C (p.Ser1889Pro) | |
| 6 | g.129465259T>G | CA365622121 | LAMA2 | c.7270T>G (p.Ser2424Ala) c.7534T>G (p.Ser2512Ala) n.901T>G c.7267T>G (p.Ser2423Ala) c.7528T>G (p.Ser2510Ala) c.7540T>G (p.Ser2514Ala) c.5665T>G (p.Ser1889Ala) | |
| 6 | g.129465260C>A | CA365622125 | LAMA2 | c.7271C>A (p.Ser2424Ter) c.7535C>A (p.Ser2512Ter) n.902C>A c.7268C>A (p.Ser2423Ter) c.7529C>A (p.Ser2510Ter) c.7541C>A (p.Ser2514Ter) c.5666C>A (p.Ser1889Ter) | |
| 6 | g.129465260C>G | CA365622127 | LAMA2 | c.7271C>G (p.Ser2424Ter) c.7535C>G (p.Ser2512Ter) n.902C>G c.7268C>G (p.Ser2423Ter) c.7529C>G (p.Ser2510Ter) c.7541C>G (p.Ser2514Ter) c.5666C>G (p.Ser1889Ter) | |
| 6 | g.129465260C>T | CA365622129 | LAMA2 | c.7271C>T (p.Ser2424Leu) c.7535C>T (p.Ser2512Leu) n.902C>T c.7268C>T (p.Ser2423Leu) c.7529C>T (p.Ser2510Leu) c.7541C>T (p.Ser2514Leu) c.5666C>T (p.Ser1889Leu) | |
| 6 | g.129465261A>C | CA451926479 | LAMA2 | c.7272A>C (p.Ser2424=) c.7536A>C (p.Ser2512=) n.903A>C c.7269A>C (p.Ser2423=) c.7530A>C (p.Ser2510=) c.7542A>C (p.Ser2514=) c.5667A>C (p.Ser1889=) | |
| 6 | g.129465261A>G | CA451926480 | LAMA2 | c.7272A>G (p.Ser2424=) c.7536A>G (p.Ser2512=) n.903A>G c.7269A>G (p.Ser2423=) c.7530A>G (p.Ser2510=) c.7542A>G (p.Ser2514=) c.5667A>G (p.Ser1889=) | |
| 6 | g.129465261A>T | CA451926481 | LAMA2 | c.7272A>T (p.Ser2424=) c.7536A>T (p.Ser2512=) n.903A>T c.7269A>T (p.Ser2423=) c.7530A>T (p.Ser2510=) c.7542A>T (p.Ser2514=) c.5667A>T (p.Ser1889=) | |
| 6 | g.129465262T>A | CA365622132 | LAMA2 | c.7273T>A (p.Phe2425Ile) c.7537T>A (p.Phe2513Ile) n.904T>A c.7270T>A (p.Phe2424Ile) c.7531T>A (p.Phe2511Ile) c.7543T>A (p.Phe2515Ile) c.5668T>A (p.Phe1890Ile) | |
| 6 | g.129465262T>C | CA365622134 | LAMA2 | c.7273T>C (p.Phe2425Leu) c.7537T>C (p.Phe2513Leu) n.904T>C c.7270T>C (p.Phe2424Leu) c.7531T>C (p.Phe2511Leu) c.7543T>C (p.Phe2515Leu) c.5668T>C (p.Phe1890Leu) | |
| 6 | g.129465262T>G | CA3994493 | LAMA2 | c.7273T>G (p.Phe2425Val) c.7537T>G (p.Phe2513Val) n.904T>G c.7270T>G (p.Phe2424Val) c.7531T>G (p.Phe2511Val) c.7543T>G (p.Phe2515Val) c.5668T>G (p.Phe1890Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465262T= | CA1663192679 | LAMA2 | c.7273T= (p.Phe2425=) c.7537T= (p.Phe2513=) n.904T= c.7270T= (p.Phe2424=) c.7531T= (p.Phe2511=) c.7543T= (p.Phe2515=) c.5668T= (p.Phe1890=) | |
| 6 | g.129465263T>A | CA365622137 | LAMA2 | c.7274T>A (p.Phe2425Tyr) c.7538T>A (p.Phe2513Tyr) n.905T>A c.7271T>A (p.Phe2424Tyr) c.7532T>A (p.Phe2511Tyr) c.7544T>A (p.Phe2515Tyr) c.5669T>A (p.Phe1890Tyr) | |
| 6 | g.129465263T>C | CA365622139 | LAMA2 | c.7274T>C (p.Phe2425Ser) c.7538T>C (p.Phe2513Ser) n.905T>C c.7271T>C (p.Phe2424Ser) c.7532T>C (p.Phe2511Ser) c.7544T>C (p.Phe2515Ser) c.5669T>C (p.Phe1890Ser) | |
| 6 | g.129465263T>G | CA365622140 | LAMA2 | c.7274T>G (p.Phe2425Cys) c.7538T>G (p.Phe2513Cys) n.905T>G c.7271T>G (p.Phe2424Cys) c.7532T>G (p.Phe2511Cys) c.7544T>G (p.Phe2515Cys) c.5669T>G (p.Phe1890Cys) | |
| 6 | g.129465264C>A | CA365622142 | LAMA2 | c.7275C>A (p.Phe2425Leu) c.7539C>A (p.Phe2513Leu) n.906C>A c.7272C>A (p.Phe2424Leu) c.7533C>A (p.Phe2511Leu) c.7545C>A (p.Phe2515Leu) c.5670C>A (p.Phe1890Leu) | COSMIC |
| 6 | g.129465264C>G | CA365622143 | LAMA2 | c.7275C>G (p.Phe2425Leu) c.7539C>G (p.Phe2513Leu) n.906C>G c.7272C>G (p.Phe2424Leu) c.7533C>G (p.Phe2511Leu) c.7545C>G (p.Phe2515Leu) c.5670C>G (p.Phe1890Leu) | |
| 6 | g.129465264C>T | CA451926482 | LAMA2 | c.7275C>T (p.Phe2425=) c.7539C>T (p.Phe2513=) n.906C>T c.7272C>T (p.Phe2424=) c.7533C>T (p.Phe2511=) c.7545C>T (p.Phe2515=) c.5670C>T (p.Phe1890=) | |
| 6 | g.129465265A>C | CA365622145 | LAMA2 | c.7276A>C (p.Thr2426Pro) c.7540A>C (p.Thr2514Pro) n.907A>C c.7273A>C (p.Thr2425Pro) c.7534A>C (p.Thr2512Pro) c.7546A>C (p.Thr2516Pro) c.5671A>C (p.Thr1891Pro) | |
| 6 | g.129465265A>G | CA365622146 | LAMA2 | c.7276A>G (p.Thr2426Ala) c.7540A>G (p.Thr2514Ala) n.907A>G c.7273A>G (p.Thr2425Ala) c.7534A>G (p.Thr2512Ala) c.7546A>G (p.Thr2516Ala) c.5671A>G (p.Thr1891Ala) | |
| 6 | g.129465265A>T | CA365622150 | LAMA2 | c.7276A>T (p.Thr2426Ser) c.7540A>T (p.Thr2514Ser) n.907A>T c.7273A>T (p.Thr2425Ser) c.7534A>T (p.Thr2512Ser) c.7546A>T (p.Thr2516Ser) c.5671A>T (p.Thr1891Ser) | |
| 6 | g.129465265_129465267delinsACT | CA1663192682 | LAMA2 | c.7276_7278delinsACT (p.Thr2426=) c.7540_7542delinsACT (p.Thr2514=) n.907_909delinsACT c.7273_7275delinsACT (p.Thr2425=) c.7534_7536delinsACT (p.Thr2512=) c.7546_7548delinsACT (p.Thr2516=) c.5671_5673delinsACT (p.Thr1891=) | |
| 6 | g.129465266C>A | CA365622153 | LAMA2 | c.7277C>A (p.Thr2426Asn) c.7541C>A (p.Thr2514Asn) n.908C>A c.7274C>A (p.Thr2425Asn) c.7535C>A (p.Thr2512Asn) c.7547C>A (p.Thr2516Asn) c.5672C>A (p.Thr1891Asn) | |
| 6 | g.129465266C= | CA1663192688 | LAMA2 | c.7277C= (p.Thr2426=) c.7541C= (p.Thr2514=) n.908C= c.7274C= (p.Thr2425=) c.7535C= (p.Thr2512=) c.7547C= (p.Thr2516=) c.5672C= (p.Thr1891=) | |
| 6 | g.129465266C>G | CA365622154 | LAMA2 | c.7277C>G (p.Thr2426Ser) c.7541C>G (p.Thr2514Ser) n.908C>G c.7274C>G (p.Thr2425Ser) c.7535C>G (p.Thr2512Ser) c.7547C>G (p.Thr2516Ser) c.5672C>G (p.Thr1891Ser) | |
| 6 | g.129465266C>T | CA365622156 | LAMA2 | c.7277C>T (p.Thr2426Ile) c.7541C>T (p.Thr2514Ile) n.908C>T c.7274C>T (p.Thr2425Ile) c.7535C>T (p.Thr2512Ile) c.7547C>T (p.Thr2516Ile) c.5672C>T (p.Thr1891Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465268_129465269del | CA220801 | LAMA2 | c.7279_7280del (p.Leu2427ValfsTer17) c.7543_7544del (p.Leu2515ValfsTer17) n.910_911del c.7276_7277del (p.Leu2426ValfsTer17) c.7537_7538del (p.Leu2513ValfsTer17) c.7549_7550del (p.Leu2517ValfsTer17) c.5674_5675del (p.Leu1892ValfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465267T>A | CA451926483 | LAMA2 | c.7278T>A (p.Thr2426=) c.7542T>A (p.Thr2514=) n.909T>A c.7275T>A (p.Thr2425=) c.7536T>A (p.Thr2512=) c.7548T>A (p.Thr2516=) c.5673T>A (p.Thr1891=) | |
| 6 | g.129465267T>C | CA451926484 | LAMA2 | c.7278T>C (p.Thr2426=) c.7542T>C (p.Thr2514=) n.909T>C c.7275T>C (p.Thr2425=) c.7536T>C (p.Thr2512=) c.7548T>C (p.Thr2516=) c.5673T>C (p.Thr1891=) | |
| 6 | g.129465267T>G | CA451926485 | LAMA2 | c.7278T>G (p.Thr2426=) c.7542T>G (p.Thr2514=) n.909T>G c.7275T>G (p.Thr2425=) c.7536T>G (p.Thr2512=) c.7548T>G (p.Thr2516=) c.5673T>G (p.Thr1891=) | |
| 6 | g.129465269_129465272del | CA2580074992 | LAMA2 | c.7280_7283del (p.Leu2427GlnfsTer12) c.7544_7547del (p.Leu2515GlnfsTer12) n.911_914del c.7277_7280del (p.Leu2426GlnfsTer12) c.7538_7541del (p.Leu2513GlnfsTer12) c.7550_7553del (p.Leu2517GlnfsTer12) c.5675_5678del (p.Leu1892GlnfsTer12) | ClinVar |
| 6 | g.129465268C>A | CA365622159 | LAMA2 | c.7279C>A (p.Leu2427Met) c.7543C>A (p.Leu2515Met) n.910C>A c.7276C>A (p.Leu2426Met) c.7537C>A (p.Leu2513Met) c.7549C>A (p.Leu2517Met) c.5674C>A (p.Leu1892Met) | |
| 6 | g.129465268C>G | CA365622162 | LAMA2 | c.7279C>G (p.Leu2427Val) c.7543C>G (p.Leu2515Val) n.910C>G c.7276C>G (p.Leu2426Val) c.7537C>G (p.Leu2513Val) c.7549C>G (p.Leu2517Val) c.5674C>G (p.Leu1892Val) | |
| 6 | g.129465268C>T | CA451926486 | LAMA2 | c.7279C>T (p.Leu2427=) c.7543C>T (p.Leu2515=) n.910C>T c.7276C>T (p.Leu2426=) c.7537C>T (p.Leu2513=) c.7549C>T (p.Leu2517=) c.5674C>T (p.Leu1892=) | |
| 6 | g.129465269del | CA2697553711 | LAMA2 | c.7280del (p.Leu2427ArgfsTer13) c.7544del (p.Leu2515ArgfsTer13) n.911del c.7277del (p.Leu2426ArgfsTer13) c.7538del (p.Leu2513ArgfsTer13) c.7550del (p.Leu2517ArgfsTer13) c.5675del (p.Leu1892ArgfsTer13) | ClinVar |
| 6 | g.129465269T>A | CA365622166 | LAMA2 | c.7280T>A (p.Leu2427Gln) c.7544T>A (p.Leu2515Gln) n.911T>A c.7277T>A (p.Leu2426Gln) c.7538T>A (p.Leu2513Gln) c.7550T>A (p.Leu2517Gln) c.5675T>A (p.Leu1892Gln) | |
| 6 | g.129465269T>C | CA365622168 | LAMA2 | c.7280T>C (p.Leu2427Pro) c.7544T>C (p.Leu2515Pro) n.911T>C c.7277T>C (p.Leu2426Pro) c.7538T>C (p.Leu2513Pro) c.7550T>C (p.Leu2517Pro) c.5675T>C (p.Leu1892Pro) | ClinVar dbSNP |
| 6 | g.129465269T>G | CA365622171 | LAMA2 | c.7280T>G (p.Leu2427Arg) c.7544T>G (p.Leu2515Arg) n.911T>G c.7277T>G (p.Leu2426Arg) c.7538T>G (p.Leu2513Arg) c.7550T>G (p.Leu2517Arg) c.5675T>G (p.Leu1892Arg) | |
| 6 | g.129465269T= | CA1663192691 | LAMA2 | c.7280T= (p.Leu2427=) c.7544T= (p.Leu2515=) n.911T= c.7277T= (p.Leu2426=) c.7538T= (p.Leu2513=) c.7550T= (p.Leu2517=) c.5675T= (p.Leu1892=) | |
| 6 | g.129465270G>A | CA451926487 | LAMA2 | c.7281G>A (p.Leu2427=) c.7545G>A (p.Leu2515=) n.912G>A c.7278G>A (p.Leu2426=) c.7539G>A (p.Leu2513=) c.7551G>A (p.Leu2517=) c.5676G>A (p.Leu1892=) | |
| 6 | g.129465270G>C | CA451926488 | LAMA2 | c.7281G>C (p.Leu2427=) c.7545G>C (p.Leu2515=) n.912G>C c.7278G>C (p.Leu2426=) c.7539G>C (p.Leu2513=) c.7551G>C (p.Leu2517=) c.5676G>C (p.Leu1892=) | |
| 6 | g.129465270G>T | CA451926489 | LAMA2 | c.7281G>T (p.Leu2427=) c.7545G>T (p.Leu2515=) n.912G>T c.7278G>T (p.Leu2426=) c.7539G>T (p.Leu2513=) c.7551G>T (p.Leu2517=) c.5676G>T (p.Leu1892=) | |
| 6 | g.129465271T>A | CA365622172 | LAMA2 | c.7282T>A (p.Ser2428Thr) c.7546T>A (p.Ser2516Thr) n.913T>A c.7279T>A (p.Ser2427Thr) c.7540T>A (p.Ser2514Thr) c.7552T>A (p.Ser2518Thr) c.5677T>A (p.Ser1893Thr) | |
| 6 | g.129465271T>C | CA365622173 | LAMA2 | c.7282T>C (p.Ser2428Pro) c.7546T>C (p.Ser2516Pro) n.913T>C c.7279T>C (p.Ser2427Pro) c.7540T>C (p.Ser2514Pro) c.7552T>C (p.Ser2518Pro) c.5677T>C (p.Ser1893Pro) | |
| 6 | g.129465271T>G | CA365622174 | LAMA2 | c.7282T>G (p.Ser2428Ala) c.7546T>G (p.Ser2516Ala) n.913T>G c.7279T>G (p.Ser2427Ala) c.7540T>G (p.Ser2514Ala) c.7552T>G (p.Ser2518Ala) c.5677T>G (p.Ser1893Ala) | |
| 6 | g.129465272C>A | CA365622175 | LAMA2 | c.7283C>A (p.Ser2428Ter) c.7547C>A (p.Ser2516Ter) n.914C>A c.7280C>A (p.Ser2427Ter) c.7541C>A (p.Ser2514Ter) c.7553C>A (p.Ser2518Ter) c.5678C>A (p.Ser1893Ter) | gnomAD v4 |
| 6 | g.129465272C= | CA1663192696 | LAMA2 | c.7283C= (p.Ser2428=) c.7547C= (p.Ser2516=) n.914C= c.7280C= (p.Ser2427=) c.7541C= (p.Ser2514=) c.7553C= (p.Ser2518=) c.5678C= (p.Ser1893=) | |
| 6 | g.129465272C>G | CA3994494 | LAMA2 | c.7283C>G (p.Ser2428Ter) c.7547C>G (p.Ser2516Ter) n.914C>G c.7280C>G (p.Ser2427Ter) c.7541C>G (p.Ser2514Ter) c.7553C>G (p.Ser2518Ter) c.5678C>G (p.Ser1893Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465272C>T | CA365622177 | LAMA2 | c.7283C>T (p.Ser2428Leu) c.7547C>T (p.Ser2516Leu) n.914C>T c.7280C>T (p.Ser2427Leu) c.7541C>T (p.Ser2514Leu) c.7553C>T (p.Ser2518Leu) c.5678C>T (p.Ser1893Leu) | |
| 6 | g.129465272_129465275del | CA913109499 | LAMA2 | c.7283_7286del (p.Ser2428Ter) c.7547_7550del (p.Ser2516Ter) n.914_917del c.7280_7283del (p.Ser2427Ter) c.7541_7544del (p.Ser2514Ter) c.7553_7556del (p.Ser2518Ter) c.5678_5681del (p.Ser1893Ter) | |
| 6 | g.129465272_129465275delinsCAAG | CA1663192694 | LAMA2 | c.7283_7286delinsCAAG (p.Ser2428=) c.7547_7550delinsCAAG (p.Ser2516=) n.914_917delinsCAAG c.7280_7283delinsCAAG (p.Ser2427=) c.7541_7544delinsCAAG (p.Ser2514=) c.7553_7556delinsCAAG (p.Ser2518=) c.5678_5681delinsCAAG (p.Ser1893=) | |
| 6 | g.129465273A>C | CA451926491 | LAMA2 | c.7284A>C (p.Ser2428=) c.7548A>C (p.Ser2516=) n.915A>C c.7281A>C (p.Ser2427=) c.7542A>C (p.Ser2514=) c.7554A>C (p.Ser2518=) c.5679A>C (p.Ser1893=) | |
| 6 | g.129465273A>G | CA451926490 | LAMA2 | c.7284A>G (p.Ser2428=) c.7548A>G (p.Ser2516=) n.915A>G c.7281A>G (p.Ser2427=) c.7542A>G (p.Ser2514=) c.7554A>G (p.Ser2518=) c.5679A>G (p.Ser1893=) | |
| 6 | g.129465273A>T | CA451926492 | LAMA2 | c.7284A>T (p.Ser2428=) c.7548A>T (p.Ser2516=) n.915A>T c.7281A>T (p.Ser2427=) c.7542A>T (p.Ser2514=) c.7554A>T (p.Ser2518=) c.5679A>T (p.Ser1893=) | |
| 6 | g.129465275_129465277del | CA365622178 | LAMA2 | c.7286_7288del (p.Arg2429del) c.7550_7552del (p.Arg2517del) n.917_919del c.7283_7285del (p.Arg2428del) c.7544_7546del (p.Arg2515del) c.7556_7558del (p.Arg2519del) c.5681_5683del (p.Arg1894del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465274A>C | CA451926493 | LAMA2 | c.7285A>C (p.Arg2429=) c.7549A>C (p.Arg2517=) n.916A>C c.7282A>C (p.Arg2428=) c.7543A>C (p.Arg2515=) c.7555A>C (p.Arg2519=) c.5680A>C (p.Arg1894=) | |
| 6 | g.129465274A>G | CA365622184 | LAMA2 | c.7285A>G (p.Arg2429Gly) c.7549A>G (p.Arg2517Gly) n.916A>G c.7282A>G (p.Arg2428Gly) c.7543A>G (p.Arg2515Gly) c.7555A>G (p.Arg2519Gly) c.5680A>G (p.Arg1894Gly) | |
| 6 | g.129465274A>T | CA365622181 | LAMA2 | c.7285A>T (p.Arg2429Ter) c.7549A>T (p.Arg2517Ter) n.916A>T c.7282A>T (p.Arg2428Ter) c.7543A>T (p.Arg2515Ter) c.7555A>T (p.Arg2519Ter) c.5680A>T (p.Arg1894Ter) | |
| 6 | g.129465275G>A | CA365622185 | LAMA2 | c.7286G>A (p.Arg2429Lys) c.7550G>A (p.Arg2517Lys) n.917G>A c.7283G>A (p.Arg2428Lys) c.7544G>A (p.Arg2515Lys) c.7556G>A (p.Arg2519Lys) c.5681G>A (p.Arg1894Lys) | |
| 6 | g.129465275G>C | CA365622188 | LAMA2 | c.7286G>C (p.Arg2429Thr) c.7550G>C (p.Arg2517Thr) n.917G>C c.7283G>C (p.Arg2428Thr) c.7544G>C (p.Arg2515Thr) c.7556G>C (p.Arg2519Thr) c.5681G>C (p.Arg1894Thr) | dbSNP |
| 6 | g.129465275G= | CA1663192703 | LAMA2 | c.7286G= (p.Arg2429=) c.7550G= (p.Arg2517=) n.917G= c.7283G= (p.Arg2428=) c.7544G= (p.Arg2515=) c.7556G= (p.Arg2519=) c.5681G= (p.Arg1894=) | |
| 6 | g.129465275G>T | CA365622189 | LAMA2 | c.7286G>T (p.Arg2429Ile) c.7550G>T (p.Arg2517Ile) n.917G>T c.7283G>T (p.Arg2428Ile) c.7544G>T (p.Arg2515Ile) c.7556G>T (p.Arg2519Ile) c.5681G>T (p.Arg1894Ile) | |
| 6 | g.129465276A>C | CA365622194 | LAMA2 | c.7287A>C (p.Arg2429Ser) c.7551A>C (p.Arg2517Ser) n.918A>C c.7284A>C (p.Arg2428Ser) c.7545A>C (p.Arg2515Ser) c.7557A>C (p.Arg2519Ser) c.5682A>C (p.Arg1894Ser) | |
| 6 | g.129465276A>G | CA451926494 | LAMA2 | c.7287A>G (p.Arg2429=) c.7551A>G (p.Arg2517=) n.918A>G c.7284A>G (p.Arg2428=) c.7545A>G (p.Arg2515=) c.7557A>G (p.Arg2519=) c.5682A>G (p.Arg1894=) | |
| 6 | g.129465276A>T | CA365622198 | LAMA2 | c.7287A>T (p.Arg2429Ser) c.7551A>T (p.Arg2517Ser) n.918A>T c.7284A>T (p.Arg2428Ser) c.7545A>T (p.Arg2515Ser) c.7557A>T (p.Arg2519Ser) c.5682A>T (p.Arg1894Ser) | gnomAD v4 |
| 6 | g.129465277A= | CA1663192708 | LAMA2 | c.7288A= (p.Ile2430=) c.7552A= (p.Ile2518=) n.919A= c.7285A= (p.Ile2429=) c.7546A= (p.Ile2516=) c.7558A= (p.Ile2520=) c.5683A= (p.Ile1895=) | |
| 6 | g.129465277A>C | CA365622200 | LAMA2 | c.7288A>C (p.Ile2430Leu) c.7552A>C (p.Ile2518Leu) n.919A>C c.7285A>C (p.Ile2429Leu) c.7546A>C (p.Ile2516Leu) c.7558A>C (p.Ile2520Leu) c.5683A>C (p.Ile1895Leu) | ClinVar dbSNP |
| 6 | g.129465277A>G | CA365622201 | LAMA2 | c.7288A>G (p.Ile2430Val) c.7552A>G (p.Ile2518Val) n.919A>G c.7285A>G (p.Ile2429Val) c.7546A>G (p.Ile2516Val) c.7558A>G (p.Ile2520Val) c.5683A>G (p.Ile1895Val) | |
| 6 | g.129465277A>T | CA365622203 | LAMA2 | c.7288A>T (p.Ile2430Phe) c.7552A>T (p.Ile2518Phe) n.919A>T c.7285A>T (p.Ile2429Phe) c.7546A>T (p.Ile2516Phe) c.7558A>T (p.Ile2520Phe) c.5683A>T (p.Ile1895Phe) | |
| 6 | g.129465278T>A | CA365622205 | LAMA2 | c.7289T>A (p.Ile2430Asn) c.7553T>A (p.Ile2518Asn) n.920T>A c.7286T>A (p.Ile2429Asn) c.7547T>A (p.Ile2516Asn) c.7559T>A (p.Ile2520Asn) c.5684T>A (p.Ile1895Asn) | |
| 6 | g.129465278T>C | CA365622207 | LAMA2 | c.7289T>C (p.Ile2430Thr) c.7553T>C (p.Ile2518Thr) n.920T>C c.7286T>C (p.Ile2429Thr) c.7547T>C (p.Ile2516Thr) c.7559T>C (p.Ile2520Thr) c.5684T>C (p.Ile1895Thr) | |
| 6 | g.129465278T>G | CA365622209 | LAMA2 | c.7289T>G (p.Ile2430Ser) c.7553T>G (p.Ile2518Ser) n.920T>G c.7286T>G (p.Ile2429Ser) c.7547T>G (p.Ile2516Ser) c.7559T>G (p.Ile2520Ser) c.5684T>G (p.Ile1895Ser) | |
| 6 | g.129465279T>A | CA451926495 | LAMA2 | c.7290T>A (p.Ile2430=) c.7554T>A (p.Ile2518=) n.921T>A c.7287T>A (p.Ile2429=) c.7548T>A (p.Ile2516=) c.7560T>A (p.Ile2520=) c.5685T>A (p.Ile1895=) | |
| 6 | g.129465279T>C | CA451926496 | LAMA2 | c.7290T>C (p.Ile2430=) c.7554T>C (p.Ile2518=) n.921T>C c.7287T>C (p.Ile2429=) c.7548T>C (p.Ile2516=) c.7560T>C (p.Ile2520=) c.5685T>C (p.Ile1895=) | gnomAD v4 |
| 6 | g.129465279T>G | CA365622211 | LAMA2 | c.7290T>G (p.Ile2430Met) c.7554T>G (p.Ile2518Met) n.921T>G c.7287T>G (p.Ile2429Met) c.7548T>G (p.Ile2516Met) c.7560T>G (p.Ile2520Met) c.5685T>G (p.Ile1895Met) | |
| 6 | g.129465280C>A | CA365622214 | LAMA2 | c.7291C>A (p.Gln2431Lys) c.7555C>A (p.Gln2519Lys) n.922C>A c.7288C>A (p.Gln2430Lys) c.7549C>A (p.Gln2517Lys) c.7561C>A (p.Gln2521Lys) c.5686C>A (p.Gln1896Lys) | |
| 6 | g.129465280C>G | CA365622221 | LAMA2 | c.7291C>G (p.Gln2431Glu) c.7555C>G (p.Gln2519Glu) n.922C>G c.7288C>G (p.Gln2430Glu) c.7549C>G (p.Gln2517Glu) c.7561C>G (p.Gln2521Glu) c.5686C>G (p.Gln1896Glu) | |
| 6 | g.129465280C>T | CA365622217 | LAMA2 | c.7291C>T (p.Gln2431Ter) c.7555C>T (p.Gln2519Ter) n.922C>T c.7288C>T (p.Gln2430Ter) c.7549C>T (p.Gln2517Ter) c.7561C>T (p.Gln2521Ter) c.5686C>T (p.Gln1896Ter) | |
| 6 | g.129465281A>C | CA365622225 | LAMA2 | c.7292A>C (p.Gln2431Pro) c.7556A>C (p.Gln2519Pro) n.923A>C c.7289A>C (p.Gln2430Pro) c.7550A>C (p.Gln2517Pro) c.7562A>C (p.Gln2521Pro) c.5687A>C (p.Gln1896Pro) | |
| 6 | g.129465281A>G | CA365622230 | LAMA2 | c.7292A>G (p.Gln2431Arg) c.7556A>G (p.Gln2519Arg) n.923A>G c.7289A>G (p.Gln2430Arg) c.7550A>G (p.Gln2517Arg) c.7562A>G (p.Gln2521Arg) c.5687A>G (p.Gln1896Arg) | |
| 6 | g.129465281A>T | CA365622227 | LAMA2 | c.7292A>T (p.Gln2431Leu) c.7556A>T (p.Gln2519Leu) n.923A>T c.7289A>T (p.Gln2430Leu) c.7550A>T (p.Gln2517Leu) c.7562A>T (p.Gln2521Leu) c.5687A>T (p.Gln1896Leu) | |
| 6 | g.129465285del | CA2580074993 | LAMA2 | c.7296del (p.Lys2432AsnfsTer8) c.7560del (p.Lys2520AsnfsTer8) n.927del c.7293del (p.Lys2431AsnfsTer8) c.7554del (p.Lys2518AsnfsTer8) c.7566del (p.Lys2522AsnfsTer8) c.5691del (p.Lys1897AsnfsTer8) | ClinVar gnomAD v4 |
| 6 | g.129465282A>C | CA365622237 | LAMA2 | c.7293A>C (p.Gln2431His) c.7557A>C (p.Gln2519His) n.924A>C c.7290A>C (p.Gln2430His) c.7551A>C (p.Gln2517His) c.7563A>C (p.Gln2521His) c.5688A>C (p.Gln1896His) | |
| 6 | g.129465282A>G | CA451926497 | LAMA2 | c.7293A>G (p.Gln2431=) c.7557A>G (p.Gln2519=) n.924A>G c.7290A>G (p.Gln2430=) c.7551A>G (p.Gln2517=) c.7563A>G (p.Gln2521=) c.5688A>G (p.Gln1896=) | |
| 6 | g.129465282A>T | CA365622240 | LAMA2 | c.7293A>T (p.Gln2431His) c.7557A>T (p.Gln2519His) n.924A>T c.7290A>T (p.Gln2430His) c.7551A>T (p.Gln2517His) c.7563A>T (p.Gln2521His) c.5688A>T (p.Gln1896His) | |
| 6 | g.129465283A>C | CA365622243 | LAMA2 | c.7294A>C (p.Lys2432Gln) c.7558A>C (p.Lys2520Gln) n.925A>C c.7291A>C (p.Lys2431Gln) c.7552A>C (p.Lys2518Gln) c.7564A>C (p.Lys2522Gln) c.5689A>C (p.Lys1897Gln) | |
| 6 | g.129465283A>G | CA365622244 | LAMA2 | c.7294A>G (p.Lys2432Glu) c.7558A>G (p.Lys2520Glu) n.925A>G c.7291A>G (p.Lys2431Glu) c.7552A>G (p.Lys2518Glu) c.7564A>G (p.Lys2522Glu) c.5689A>G (p.Lys1897Glu) | |
| 6 | g.129465283A>T | CA365622247 | LAMA2 | c.7294A>T (p.Lys2432Ter) c.7558A>T (p.Lys2520Ter) n.925A>T c.7291A>T (p.Lys2431Ter) c.7552A>T (p.Lys2518Ter) c.7564A>T (p.Lys2522Ter) c.5689A>T (p.Lys1897Ter) | |
| 6 | g.129465284A>C | CA365622255 | LAMA2 | c.7295A>C (p.Lys2432Thr) c.7559A>C (p.Lys2520Thr) n.926A>C c.7292A>C (p.Lys2431Thr) c.7553A>C (p.Lys2518Thr) c.7565A>C (p.Lys2522Thr) c.5690A>C (p.Lys1897Thr) | |
| 6 | g.129465284A>G | CA365622257 | LAMA2 | c.7295A>G (p.Lys2432Arg) c.7559A>G (p.Lys2520Arg) n.926A>G c.7292A>G (p.Lys2431Arg) c.7553A>G (p.Lys2518Arg) c.7565A>G (p.Lys2522Arg) c.5690A>G (p.Lys1897Arg) | |
| 6 | g.129465284A>T | CA365622259 | LAMA2 | c.7295A>T (p.Lys2432Ile) c.7559A>T (p.Lys2520Ile) n.926A>T c.7292A>T (p.Lys2431Ile) c.7553A>T (p.Lys2518Ile) c.7565A>T (p.Lys2522Ile) c.5690A>T (p.Lys1897Ile) | |
| 6 | g.129465285A= | CA1663192712 | LAMA2 | c.7296A= (p.Lys2432=) c.7560A= (p.Lys2520=) n.927A= c.7293A= (p.Lys2431=) c.7554A= (p.Lys2518=) c.7566A= (p.Lys2522=) c.5691A= (p.Lys1897=) | |
| 6 | g.129465285A>C | CA365622263 | LAMA2 | c.7296A>C (p.Lys2432Asn) c.7560A>C (p.Lys2520Asn) n.927A>C c.7293A>C (p.Lys2431Asn) c.7554A>C (p.Lys2518Asn) c.7566A>C (p.Lys2522Asn) c.5691A>C (p.Lys1897Asn) | |
| 6 | g.129465285A>G | CA451926498 | LAMA2 | c.7296A>G (p.Lys2432=) c.7560A>G (p.Lys2520=) n.927A>G c.7293A>G (p.Lys2431=) c.7554A>G (p.Lys2518=) c.7566A>G (p.Lys2522=) c.5691A>G (p.Lys1897=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465285A>T | CA365622272 | LAMA2 | c.7296A>T (p.Lys2432Asn) c.7560A>T (p.Lys2520Asn) n.927A>T c.7293A>T (p.Lys2431Asn) c.7554A>T (p.Lys2518Asn) c.7566A>T (p.Lys2522Asn) c.5691A>T (p.Lys1897Asn) | |
| 6 | g.129465286C>A | CA365622279 | LAMA2 | c.7297C>A (p.Gln2433Lys) c.7561C>A (p.Gln2521Lys) n.928C>A c.7294C>A (p.Gln2432Lys) c.7555C>A (p.Gln2519Lys) c.7567C>A (p.Gln2523Lys) c.5692C>A (p.Gln1898Lys) | |
| 6 | g.129465286C= | CA1663192714 | LAMA2 | c.7297C= (p.Gln2433=) c.7561C= (p.Gln2521=) n.928C= c.7294C= (p.Gln2432=) c.7555C= (p.Gln2519=) c.7567C= (p.Gln2523=) c.5692C= (p.Gln1898=) | |
| 6 | g.129465286C>G | CA365622276 | LAMA2 | c.7297C>G (p.Gln2433Glu) c.7561C>G (p.Gln2521Glu) n.928C>G c.7294C>G (p.Gln2432Glu) c.7555C>G (p.Gln2519Glu) c.7567C>G (p.Gln2523Glu) c.5692C>G (p.Gln1898Glu) | |
| 6 | g.129465286C>T | CA365622275 | LAMA2 | c.7297C>T (p.Gln2433Ter) c.7561C>T (p.Gln2521Ter) n.928C>T c.7294C>T (p.Gln2432Ter) c.7555C>T (p.Gln2519Ter) c.7567C>T (p.Gln2523Ter) c.5692C>T (p.Gln1898Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465287A>C | CA365622280 | LAMA2 | c.7298A>C (p.Gln2433Pro) c.7562A>C (p.Gln2521Pro) n.929A>C c.7295A>C (p.Gln2432Pro) c.7556A>C (p.Gln2519Pro) c.7568A>C (p.Gln2523Pro) c.5693A>C (p.Gln1898Pro) | |
| 6 | g.129465287A>G | CA365622281 | LAMA2 | c.7298A>G (p.Gln2433Arg) c.7562A>G (p.Gln2521Arg) n.929A>G c.7295A>G (p.Gln2432Arg) c.7556A>G (p.Gln2519Arg) c.7568A>G (p.Gln2523Arg) c.5693A>G (p.Gln1898Arg) | gnomAD v4 |
| 6 | g.129465287A>T | CA365622282 | LAMA2 | c.7298A>T (p.Gln2433Leu) c.7562A>T (p.Gln2521Leu) n.929A>T c.7295A>T (p.Gln2432Leu) c.7556A>T (p.Gln2519Leu) c.7568A>T (p.Gln2523Leu) c.5693A>T (p.Gln1898Leu) | |
| 6 | g.129465288A>C | CA365622283 | LAMA2 | c.7299A>C (p.Gln2433His) c.7563A>C (p.Gln2521His) n.930A>C c.7296A>C (p.Gln2432His) c.7557A>C (p.Gln2519His) c.7569A>C (p.Gln2523His) c.5694A>C (p.Gln1898His) | |
| 6 | g.129465288A>G | CA451926499 | LAMA2 | c.7299A>G (p.Gln2433=) c.7563A>G (p.Gln2521=) n.930A>G c.7296A>G (p.Gln2432=) c.7557A>G (p.Gln2519=) c.7569A>G (p.Gln2523=) c.5694A>G (p.Gln1898=) | |
| 6 | g.129465288A>T | CA365622285 | LAMA2 | c.7299A>T (p.Gln2433His) c.7563A>T (p.Gln2521His) n.930A>T c.7296A>T (p.Gln2432His) c.7557A>T (p.Gln2519His) c.7569A>T (p.Gln2523His) c.5694A>T (p.Gln1898His) | |
| 6 | g.129465289G>A | CA365622287 | LAMA2 | c.7300G>A (p.Ala2434Thr) c.7564G>A (p.Ala2522Thr) n.931G>A c.7297G>A (p.Ala2433Thr) c.7558G>A (p.Ala2520Thr) c.7570G>A (p.Ala2524Thr) c.5695G>A (p.Ala1899Thr) | dbSNP |
| 6 | g.129465289G>C | CA365622294 | LAMA2 | c.7300G>C (p.Ala2434Pro) c.7564G>C (p.Ala2522Pro) n.931G>C c.7297G>C (p.Ala2433Pro) c.7558G>C (p.Ala2520Pro) c.7570G>C (p.Ala2524Pro) c.5695G>C (p.Ala1899Pro) | |
| 6 | g.129465289G= | CA1663192715 | LAMA2 | c.7300G= (p.Ala2434=) c.7564G= (p.Ala2522=) n.931G= c.7297G= (p.Ala2433=) c.7558G= (p.Ala2520=) c.7570G= (p.Ala2524=) c.5695G= (p.Ala1899=) | |
| 6 | g.129465289G>T | CA365622296 | LAMA2 | c.7300G>T (p.Ala2434Ser) c.7564G>T (p.Ala2522Ser) n.931G>T c.7297G>T (p.Ala2433Ser) c.7558G>T (p.Ala2520Ser) c.7570G>T (p.Ala2524Ser) c.5695G>T (p.Ala1899Ser) | |
| 6 | g.129465290G>A | CA365622298 | LAMA2 | c.7300+1G>A (n.7300+1G>A) c.7564+1G>A (n.7564+1G>A) n.931+1G>A c.7297+1G>A (n.7297+1G>A) c.7558+1G>A (n.7558+1G>A) c.7570+1G>A (n.7570+1G>A) c.5695+1G>A (n.5695+1G>A) | |
| 6 | g.129465290G>C | CA365622304 | LAMA2 | c.7300+1G>C (n.7300+1G>C) c.7564+1G>C (n.7564+1G>C) n.931+1G>C c.7297+1G>C (n.7297+1G>C) c.7558+1G>C (n.7558+1G>C) c.7570+1G>C (n.7570+1G>C) c.5695+1G>C (n.5695+1G>C) | |
| 6 | g.129465290G>T | CA365622305 | LAMA2 | c.7300+1G>T (n.7300+1G>T) c.7564+1G>T (n.7564+1G>T) n.931+1G>T c.7297+1G>T (n.7297+1G>T) c.7558+1G>T (n.7558+1G>T) c.7570+1G>T (n.7570+1G>T) c.5695+1G>T (n.5695+1G>T) | gnomAD v4 |
| 6 | g.129465291T>A | CA365622308 | LAMA2 | c.7300+2T>A (n.7300+2T>A) c.7564+2T>A (n.7564+2T>A) n.931+2T>A c.7297+2T>A (n.7297+2T>A) c.7558+2T>A (n.7558+2T>A) c.7570+2T>A (n.7570+2T>A) c.5695+2T>A (n.5695+2T>A) | |
| 6 | g.129465291T>C | CA365622310 | LAMA2 | c.7300+2T>C (n.7300+2T>C) c.7564+2T>C (n.7564+2T>C) n.931+2T>C c.7297+2T>C (n.7297+2T>C) c.7558+2T>C (n.7558+2T>C) c.7570+2T>C (n.7570+2T>C) c.5695+2T>C (n.5695+2T>C) | dbSNP |
| 6 | g.129465291T>G | CA3994495 | LAMA2 | c.7300+2T>G (n.7300+2T>G) c.7564+2T>G (n.7564+2T>G) n.931+2T>G c.7297+2T>G (n.7297+2T>G) c.7558+2T>G (n.7558+2T>G) c.7570+2T>G (n.7570+2T>G) c.5695+2T>G (n.5695+2T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129465291T= | CA1663192716 | LAMA2 | c.7300+2T= (n.7300+2T=) c.7564+2T= (n.7564+2T=) n.931+2T= c.7297+2T= (n.7297+2T=) c.7558+2T= (n.7558+2T=) c.7570+2T= (n.7570+2T=) c.5695+2T= (n.5695+2T=) | |
| 6 | g.129465294_129465296dup | CA2573140487 | LAMA2 | c.7300+5_7300+7dup (n.7300+5_7300+7dup) c.7564+5_7564+7dup (n.7564+5_7564+7dup) n.931+5_931+7dup c.7297+5_7297+7dup (n.7297+5_7297+7dup) c.7558+5_7558+7dup (n.7558+5_7558+7dup) c.7570+5_7570+7dup (n.7570+5_7570+7dup) c.5695+5_5695+7dup (n.5695+5_5695+7dup) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465297T>C | CA1663192718 | LAMA2 | c.7300+8T>C (n.7300+8T>C) c.7564+8T>C (n.7564+8T>C) n.931+8T>C c.7297+8T>C (n.7297+8T>C) c.7558+8T>C (n.7558+8T>C) c.7570+8T>C (n.7570+8T>C) c.5695+8T>C (n.5695+8T>C) | dbSNP gnomAD v4 |
| 6 | g.129465297T= | CA1663192719 | LAMA2 | c.7300+8T= (n.7300+8T=) c.7564+8T= (n.7564+8T=) n.931+8T= c.7297+8T= (n.7297+8T=) c.7558+8T= (n.7558+8T=) c.7570+8T= (n.7570+8T=) c.5695+8T= (n.5695+8T=) | |
| 6 | g.129465298T>A | CA2773038006 | LAMA2 | c.7300+9T>A (n.7300+9T>A) c.7564+9T>A (n.7564+9T>A) n.931+9T>A c.7297+9T>A (n.7297+9T>A) c.7558+9T>A (n.7558+9T>A) c.7570+9T>A (n.7570+9T>A) c.5695+9T>A (n.5695+9T>A) | |
| 6 | g.129465298T>C | CA2773038007 | LAMA2 | c.7300+9T>C (n.7300+9T>C) c.7564+9T>C (n.7564+9T>C) n.931+9T>C c.7297+9T>C (n.7297+9T>C) c.7558+9T>C (n.7558+9T>C) c.7570+9T>C (n.7570+9T>C) c.5695+9T>C (n.5695+9T>C) | |
| 6 | g.129465299T>A | CA207908 | LAMA2 | c.7300+10T>A (n.7300+10T>A) c.7564+10T>A (n.7564+10T>A) n.931+10T>A c.7297+10T>A (n.7297+10T>A) c.7558+10T>A (n.7558+10T>A) c.7570+10T>A (n.7570+10T>A) c.5695+10T>A (n.5695+10T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465299T= | CA1663192721 | LAMA2 | c.7300+10T= (n.7300+10T=) c.7564+10T= (n.7564+10T=) n.931+10T= c.7297+10T= (n.7297+10T=) c.7558+10T= (n.7558+10T=) c.7570+10T= (n.7570+10T=) c.5695+10T= (n.5695+10T=) | |
| 6 | g.129465300A>C | CA2773038009 | LAMA2 | c.7300+11A>C (n.7300+11A>C) c.7564+11A>C (n.7564+11A>C) n.931+11A>C c.7297+11A>C (n.7297+11A>C) c.7558+11A>C (n.7558+11A>C) c.7570+11A>C (n.7570+11A>C) c.5695+11A>C (n.5695+11A>C) | |
| 6 | g.129465301C>A | CA2578756822 | LAMA2 | c.7300+12C>A (n.7300+12C>A) c.7564+12C>A (n.7564+12C>A) n.931+12C>A c.7297+12C>A (n.7297+12C>A) c.7558+12C>A (n.7558+12C>A) c.7570+12C>A (n.7570+12C>A) c.5695+12C>A (n.5695+12C>A) | |
| 6 | g.129465301C= | CA1663192725 | LAMA2 | c.7300+12C= (n.7300+12C=) c.7564+12C= (n.7564+12C=) n.931+12C= c.7297+12C= (n.7297+12C=) c.7558+12C= (n.7558+12C=) c.7570+12C= (n.7570+12C=) c.5695+12C= (n.5695+12C=) | |
| 6 | g.129465301C>T | CA3994496 | LAMA2 | c.7300+12C>T (n.7300+12C>T) c.7564+12C>T (n.7564+12C>T) n.931+12C>T c.7297+12C>T (n.7297+12C>T) c.7558+12C>T (n.7558+12C>T) c.7570+12C>T (n.7570+12C>T) c.5695+12C>T (n.5695+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465302A= | CA1663192729 | LAMA2 | c.7300+13A= (n.7300+13A=) c.7564+13A= (n.7564+13A=) n.931+13A= c.7297+13A= (n.7297+13A=) c.7558+13A= (n.7558+13A=) c.7570+13A= (n.7570+13A=) c.5695+13A= (n.5695+13A=) | |
| 6 | g.129465302A>G | CA818844752 | LAMA2 | c.7300+13A>G (n.7300+13A>G) c.7564+13A>G (n.7564+13A>G) n.931+13A>G c.7297+13A>G (n.7297+13A>G) c.7558+13A>G (n.7558+13A>G) c.7570+13A>G (n.7570+13A>G) c.5695+13A>G (n.5695+13A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129465303G>C | CA2578756823 | LAMA2 | c.7300+14G>C (n.7300+14G>C) c.7564+14G>C (n.7564+14G>C) n.931+14G>C c.7297+14G>C (n.7297+14G>C) c.7558+14G>C (n.7558+14G>C) c.7570+14G>C (n.7570+14G>C) c.5695+14G>C (n.5695+14G>C) | |
| 6 | g.129465303G= | CA1663192732 | LAMA2 | c.7300+14G= (n.7300+14G=) c.7564+14G= (n.7564+14G=) n.931+14G= c.7297+14G= (n.7297+14G=) c.7558+14G= (n.7558+14G=) c.7570+14G= (n.7570+14G=) c.5695+14G= (n.5695+14G=) | |
| 6 | g.129465303G>T | CA3994497 | LAMA2 | c.7300+14G>T (n.7300+14G>T) c.7564+14G>T (n.7564+14G>T) n.931+14G>T c.7297+14G>T (n.7297+14G>T) c.7558+14G>T (n.7558+14G>T) c.7570+14G>T (n.7570+14G>T) c.5695+14G>T (n.5695+14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465304T>A | CA3994498 | LAMA2 | c.7300+15T>A (n.7300+15T>A) c.7564+15T>A (n.7564+15T>A) n.931+15T>A c.7297+15T>A (n.7297+15T>A) c.7558+15T>A (n.7558+15T>A) c.7570+15T>A (n.7570+15T>A) c.5695+15T>A (n.5695+15T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465304T= | CA1663192734 | LAMA2 | c.7300+15T= (n.7300+15T=) c.7564+15T= (n.7564+15T=) n.931+15T= c.7297+15T= (n.7297+15T=) c.7558+15T= (n.7558+15T=) c.7570+15T= (n.7570+15T=) c.5695+15T= (n.5695+15T=) | |
| 6 | g.129465306A= | CA1663192735 | LAMA2 | c.7300+17A= (n.7300+17A=) c.7564+17A= (n.7564+17A=) n.931+17A= c.7297+17A= (n.7297+17A=) c.7558+17A= (n.7558+17A=) c.7570+17A= (n.7570+17A=) c.5695+17A= (n.5695+17A=) | |
| 6 | g.129465306A>G | CA3994499 | LAMA2 | c.7300+17A>G (n.7300+17A>G) c.7564+17A>G (n.7564+17A>G) n.931+17A>G c.7297+17A>G (n.7297+17A>G) c.7558+17A>G (n.7558+17A>G) c.7570+17A>G (n.7570+17A>G) c.5695+17A>G (n.5695+17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129465307del | CA2680307935 | LAMA2 | c.7300+18del (n.7300+18del) c.7564+18del (n.7564+18del) n.931+18del c.7297+18del (n.7297+18del) c.7558+18del (n.7558+18del) c.7570+18del (n.7570+18del) c.5695+18del (n.5695+18del) | gnomAD v4 |
| 6 | g.129465307T>C | CA2573140488 | LAMA2 | c.7300+18T>C (n.7300+18T>C) c.7564+18T>C (n.7564+18T>C) n.931+18T>C c.7297+18T>C (n.7297+18T>C) c.7558+18T>C (n.7558+18T>C) c.7570+18T>C (n.7570+18T>C) c.5695+18T>C (n.5695+18T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129465308A= | CA1663192736 | LAMA2 | c.7300+19A= (n.7300+19A=) c.7564+19A= (n.7564+19A=) n.931+19A= c.7297+19A= (n.7297+19A=) c.7558+19A= (n.7558+19A=) c.7570+19A= (n.7570+19A=) c.5695+19A= (n.5695+19A=) | |
| 6 | g.129465308A>G | CA3994500 | LAMA2 | c.7300+19A>G (n.7300+19A>G) c.7564+19A>G (n.7564+19A>G) n.931+19A>G c.7297+19A>G (n.7297+19A>G) c.7558+19A>G (n.7558+19A>G) c.7570+19A>G (n.7570+19A>G) c.5695+19A>G (n.5695+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |