| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129315498C>A | CA365612651 | LAMA2 | c.3578C>A (p.Thr1193Asn) c.3842C>A (p.Thr1281Asn) c.3848C>A (p.Thr1283Asn) c.1973C>A (p.Thr658Asn) | |
| 6 | g.129315498C= | CA1663079645 | LAMA2 | c.3578C= (p.Thr1193=) c.3842C= (p.Thr1281=) c.3848C= (p.Thr1283=) c.1973C= (p.Thr658=) | |
| 6 | g.129315498C>G | CA3993305 | LAMA2 | c.3578C>G (p.Thr1193Ser) c.3842C>G (p.Thr1281Ser) c.3848C>G (p.Thr1283Ser) c.1973C>G (p.Thr658Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315498C>T | CA365612652 | LAMA2 | c.3578C>T (p.Thr1193Ile) c.3842C>T (p.Thr1281Ile) c.3848C>T (p.Thr1283Ile) c.1973C>T (p.Thr658Ile) | gnomAD v4 |
| 6 | g.129315499C>A | CA451936700 | LAMA2 | c.3579C>A (p.Thr1193=) c.3843C>A (p.Thr1281=) c.3849C>A (p.Thr1283=) c.1974C>A (p.Thr658=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129315499C= | CA1663079650 | LAMA2 | c.3579C= (p.Thr1193=) c.3843C= (p.Thr1281=) c.3849C= (p.Thr1283=) c.1974C= (p.Thr658=) | |
| 6 | g.129315499C>G | CA3993306 | LAMA2 | c.3579C>G (p.Thr1193=) c.3843C>G (p.Thr1281=) c.3849C>G (p.Thr1283=) c.1974C>G (p.Thr658=) | dbSNP ExAC gnomAD v2 |
| 6 | g.129315499C>T | CA451936701 | LAMA2 | c.3579C>T (p.Thr1193=) c.3843C>T (p.Thr1281=) c.3849C>T (p.Thr1283=) c.1974C>T (p.Thr658=) | |
| 6 | g.129315500A= | CA1663079653 | LAMA2 | c.3580A= (p.Ile1194=) c.3844A= (p.Ile1282=) c.3850A= (p.Ile1284=) c.1975A= (p.Ile659=) | |
| 6 | g.129315500A>C | CA365612654 | LAMA2 | c.3580A>C (p.Ile1194Leu) c.3844A>C (p.Ile1282Leu) c.3850A>C (p.Ile1284Leu) c.1975A>C (p.Ile659Leu) | |
| 6 | g.129315500A>G | CA365612656 | LAMA2 | c.3580A>G (p.Ile1194Val) c.3844A>G (p.Ile1282Val) c.3850A>G (p.Ile1284Val) c.1975A>G (p.Ile659Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315500A>T | CA365612658 | LAMA2 | c.3580A>T (p.Ile1194Phe) c.3844A>T (p.Ile1282Phe) c.3850A>T (p.Ile1284Phe) c.1975A>T (p.Ile659Phe) | |
| 6 | g.129315501T>A | CA365612660 | LAMA2 | c.3581T>A (p.Ile1194Asn) c.3845T>A (p.Ile1282Asn) c.3851T>A (p.Ile1284Asn) c.1976T>A (p.Ile659Asn) | |
| 6 | g.129315501T>C | CA365612662 | LAMA2 | c.3581T>C (p.Ile1194Thr) c.3845T>C (p.Ile1282Thr) c.3851T>C (p.Ile1284Thr) c.1976T>C (p.Ile659Thr) | |
| 6 | g.129315501T>G | CA365612661 | LAMA2 | c.3581T>G (p.Ile1194Ser) c.3845T>G (p.Ile1282Ser) c.3851T>G (p.Ile1284Ser) c.1976T>G (p.Ile659Ser) | |
| 6 | g.129315502T>A | CA451936702 | LAMA2 | c.3582T>A (p.Ile1194=) c.3846T>A (p.Ile1282=) c.3852T>A (p.Ile1284=) c.1977T>A (p.Ile659=) | |
| 6 | g.129315502T>C | CA3993307 | LAMA2 | c.3582T>C (p.Ile1194=) c.3846T>C (p.Ile1282=) c.3852T>C (p.Ile1284=) c.1977T>C (p.Ile659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315502T>G | CA365612664 | LAMA2 | c.3582T>G (p.Ile1194Met) c.3846T>G (p.Ile1282Met) c.3852T>G (p.Ile1284Met) c.1977T>G (p.Ile659Met) | |
| 6 | g.129315502T= | CA1663079657 | LAMA2 | c.3582T= (p.Ile1194=) c.3846T= (p.Ile1282=) c.3852T= (p.Ile1284=) c.1977T= (p.Ile659=) | |
| 6 | g.129315503C>A | CA365612666 | LAMA2 | c.3583C>A (p.Leu1195Ile) c.3847C>A (p.Leu1283Ile) c.3853C>A (p.Leu1285Ile) c.1978C>A (p.Leu660Ile) | |
| 6 | g.129315503C= | CA1663079665 | LAMA2 | c.3583C= (p.Leu1195=) c.3847C= (p.Leu1283=) c.3853C= (p.Leu1285=) c.1978C= (p.Leu660=) | |
| 6 | g.129315503C>G | CA365612668 | LAMA2 | c.3583C>G (p.Leu1195Val) c.3847C>G (p.Leu1283Val) c.3853C>G (p.Leu1285Val) c.1978C>G (p.Leu660Val) | |
| 6 | g.129315503C>T | CA146913877 | LAMA2 | c.3583C>T (p.Leu1195=) c.3847C>T (p.Leu1283=) c.3853C>T (p.Leu1285=) c.1978C>T (p.Leu660=) | dbSNP COSMIC |
| 6 | g.129315504T>A | CA365612669 | LAMA2 | c.3584T>A (p.Leu1195Gln) c.3848T>A (p.Leu1283Gln) c.3854T>A (p.Leu1285Gln) c.1979T>A (p.Leu660Gln) | dbSNP gnomAD v4 |
| 6 | g.129315504T>C | CA3993308 | LAMA2 | c.3584T>C (p.Leu1195Pro) c.3848T>C (p.Leu1283Pro) c.3854T>C (p.Leu1285Pro) c.1979T>C (p.Leu660Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315504T>G | CA365612672 | LAMA2 | c.3584T>G (p.Leu1195Arg) c.3848T>G (p.Leu1283Arg) c.3854T>G (p.Leu1285Arg) c.1979T>G (p.Leu660Arg) | |
| 6 | g.129315504T= | CA1663079669 | LAMA2 | c.3584T= (p.Leu1195=) c.3848T= (p.Leu1283=) c.3854T= (p.Leu1285=) c.1979T= (p.Leu660=) | |
| 6 | g.129315505A= | CA1663079672 | LAMA2 | c.3585A= (p.Leu1195=) c.3849A= (p.Leu1283=) c.3855A= (p.Leu1285=) c.1980A= (p.Leu660=) | |
| 6 | g.129315505A>C | CA451936703 | LAMA2 | c.3585A>C (p.Leu1195=) c.3849A>C (p.Leu1283=) c.3855A>C (p.Leu1285=) c.1980A>C (p.Leu660=) | |
| 6 | g.129315505A>G | CA242505 | LAMA2 | c.3585A>G (p.Leu1195=) c.3849A>G (p.Leu1283=) c.3855A>G (p.Leu1285=) c.1980A>G (p.Leu660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315505A>T | CA451936704 | LAMA2 | c.3585A>T (p.Leu1195=) c.3849A>T (p.Leu1283=) c.3855A>T (p.Leu1285=) c.1980A>T (p.Leu660=) | |
| 6 | g.129315506C>A | CA365612674 | LAMA2 | c.3586C>A (p.Pro1196Thr) c.3850C>A (p.Pro1284Thr) c.3856C>A (p.Pro1286Thr) c.1981C>A (p.Pro661Thr) | |
| 6 | g.129315506C= | CA1663079678 | LAMA2 | c.3586C= (p.Pro1196=) c.3850C= (p.Pro1284=) c.3856C= (p.Pro1286=) c.1981C= (p.Pro661=) | |
| 6 | g.129315506C>G | CA365612676 | LAMA2 | c.3586C>G (p.Pro1196Ala) c.3850C>G (p.Pro1284Ala) c.3856C>G (p.Pro1286Ala) c.1981C>G (p.Pro661Ala) | |
| 6 | g.129315506C>T | CA3993309 | LAMA2 | c.3586C>T (p.Pro1196Ser) c.3850C>T (p.Pro1284Ser) c.3856C>T (p.Pro1286Ser) c.1981C>T (p.Pro661Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315509del | CA645546660 | LAMA2 | c.3589del (p.Leu1197TrpfsTer2) c.3853del (p.Leu1285TrpfsTer2) c.3859del (p.Leu1287TrpfsTer2) c.1984del (p.Leu662TrpfsTer2) | COSMIC |
| 6 | g.129315507C>A | CA365612678 | LAMA2 | c.3587C>A (p.Pro1196His) c.3851C>A (p.Pro1284His) c.3857C>A (p.Pro1286His) c.1982C>A (p.Pro661His) | gnomAD v4 |
| 6 | g.129315507C= | CA1663079684 | LAMA2 | c.3587C= (p.Pro1196=) c.3851C= (p.Pro1284=) c.3857C= (p.Pro1286=) c.1982C= (p.Pro661=) | |
| 6 | g.129315507C>G | CA365612681 | LAMA2 | c.3587C>G (p.Pro1196Arg) c.3851C>G (p.Pro1284Arg) c.3857C>G (p.Pro1286Arg) c.1982C>G (p.Pro661Arg) | |
| 6 | g.129315507C>T | CA365612680 | LAMA2 | c.3587C>T (p.Pro1196Leu) c.3851C>T (p.Pro1284Leu) c.3857C>T (p.Pro1286Leu) c.1982C>T (p.Pro661Leu) | dbSNP gnomAD v4 |
| 6 | g.129315508C>A | CA451936707 | LAMA2 | c.3588C>A (p.Pro1196=) c.3852C>A (p.Pro1284=) c.3858C>A (p.Pro1286=) c.1983C>A (p.Pro661=) | gnomAD v4 |
| 6 | g.129315508C>G | CA451936706 | LAMA2 | c.3588C>G (p.Pro1196=) c.3852C>G (p.Pro1284=) c.3858C>G (p.Pro1286=) c.1983C>G (p.Pro661=) | |
| 6 | g.129315508C>T | CA451936705 | LAMA2 | c.3588C>T (p.Pro1196=) c.3852C>T (p.Pro1284=) c.3858C>T (p.Pro1286=) c.1983C>T (p.Pro661=) | gnomAD v4 COSMIC |
| 6 | g.129315509C>A | CA365612682 | LAMA2 | c.3589C>A (p.Leu1197Met) c.3853C>A (p.Leu1285Met) c.3859C>A (p.Leu1287Met) c.1984C>A (p.Leu662Met) | |
| 6 | g.129315509C>G | CA365612684 | LAMA2 | c.3589C>G (p.Leu1197Val) c.3853C>G (p.Leu1285Val) c.3859C>G (p.Leu1287Val) c.1984C>G (p.Leu662Val) | |
| 6 | g.129315509C>T | CA451936708 | LAMA2 | c.3589C>T (p.Leu1197=) c.3853C>T (p.Leu1285=) c.3859C>T (p.Leu1287=) c.1984C>T (p.Leu662=) | |
| 6 | g.129315510T>A | CA365612686 | LAMA2 | c.3590T>A (p.Leu1197Gln) c.3854T>A (p.Leu1285Gln) c.3860T>A (p.Leu1287Gln) c.1985T>A (p.Leu662Gln) | |
| 6 | g.129315510T>C | CA365612687 | LAMA2 | c.3590T>C (p.Leu1197Pro) c.3854T>C (p.Leu1285Pro) c.3860T>C (p.Leu1287Pro) c.1985T>C (p.Leu662Pro) | ClinVar dbSNP |
| 6 | g.129315510T>G | CA365612689 | LAMA2 | c.3590T>G (p.Leu1197Arg) c.3854T>G (p.Leu1285Arg) c.3860T>G (p.Leu1287Arg) c.1985T>G (p.Leu662Arg) | |
| 6 | g.129315511G>A | CA451936709 | LAMA2 | c.3591G>A (p.Leu1197=) c.3855G>A (p.Leu1285=) c.3861G>A (p.Leu1287=) c.1986G>A (p.Leu662=) | ClinVar |
| 6 | g.129315511G>C | CA3993310 | LAMA2 | c.3591G>C (p.Leu1197=) c.3855G>C (p.Leu1285=) c.3861G>C (p.Leu1287=) c.1986G>C (p.Leu662=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315511G= | CA1663079689 | LAMA2 | c.3591G= (p.Leu1197=) c.3855G= (p.Leu1285=) c.3861G= (p.Leu1287=) c.1986G= (p.Leu662=) | |
| 6 | g.129315511G>T | CA451936710 | LAMA2 | c.3591G>T (p.Leu1197=) c.3855G>T (p.Leu1285=) c.3861G>T (p.Leu1287=) c.1986G>T (p.Leu662=) | gnomAD v4 |
| 6 | g.129315512G>A | CA365612691 | LAMA2 | c.3592G>A (p.Val1198Ile) c.3856G>A (p.Val1286Ile) c.3862G>A (p.Val1288Ile) c.1987G>A (p.Val663Ile) | |
| 6 | g.129315512G>C | CA365612693 | LAMA2 | c.3592G>C (p.Val1198Leu) c.3856G>C (p.Val1286Leu) c.3862G>C (p.Val1288Leu) c.1987G>C (p.Val663Leu) | gnomAD v4 |
| 6 | g.129315512G= | CA1663079692 | LAMA2 | c.3592G= (p.Val1198=) c.3856G= (p.Val1286=) c.3862G= (p.Val1288=) c.1987G= (p.Val663=) | |
| 6 | g.129315512G>T | CA365612695 | LAMA2 | c.3592G>T (p.Val1198Leu) c.3856G>T (p.Val1286Leu) c.3862G>T (p.Val1288Leu) c.1987G>T (p.Val663Leu) | dbSNP |
| 6 | g.129315513T>A | CA365612696 | LAMA2 | c.3593T>A (p.Val1198Glu) c.3857T>A (p.Val1286Glu) c.3863T>A (p.Val1288Glu) c.1988T>A (p.Val663Glu) | |
| 6 | g.129315513T>C | CA3993311 | LAMA2 | c.3593T>C (p.Val1198Ala) c.3857T>C (p.Val1286Ala) c.3863T>C (p.Val1288Ala) c.1988T>C (p.Val663Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315513T>G | CA365612698 | LAMA2 | c.3593T>G (p.Val1198Gly) c.3857T>G (p.Val1286Gly) c.3863T>G (p.Val1288Gly) c.1988T>G (p.Val663Gly) | |
| 6 | g.129315513T= | CA1663079693 | LAMA2 | c.3593T= (p.Val1198=) c.3857T= (p.Val1286=) c.3863T= (p.Val1288=) c.1988T= (p.Val663=) | |
| 6 | g.129315513_129315525del | CA2573052577 | LAMA2 | c.3593_3605del (p.Val1198GlyfsTer22) c.3857_3869del (p.Val1286GlyfsTer22) c.3863_3875del (p.Val1288GlyfsTer22) c.1988_2000del (p.Val663GlyfsTer22) | ClinVar dbSNP |
| 6 | g.129315514A= | CA1663079696 | LAMA2 | c.3594A= (p.Val1198=) c.3858A= (p.Val1286=) c.3864A= (p.Val1288=) c.1989A= (p.Val663=) | |
| 6 | g.129315514A>C | CA451936711 | LAMA2 | c.3594A>C (p.Val1198=) c.3858A>C (p.Val1286=) c.3864A>C (p.Val1288=) c.1989A>C (p.Val663=) | |
| 6 | g.129315514A>G | CA3993312 | LAMA2 | c.3594A>G (p.Val1198=) c.3858A>G (p.Val1286=) c.3864A>G (p.Val1288=) c.1989A>G (p.Val663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315514A>T | CA451936712 | LAMA2 | c.3594A>T (p.Val1198=) c.3858A>T (p.Val1286=) c.3864A>T (p.Val1288=) c.1989A>T (p.Val663=) | |
| 6 | g.129315515G>A | CA365612704 | LAMA2 | c.3595G>A (p.Asp1199Asn) c.3859G>A (p.Asp1287Asn) c.3865G>A (p.Asp1289Asn) c.1990G>A (p.Asp664Asn) | |
| 6 | g.129315515G>C | CA365612701 | LAMA2 | c.3595G>C (p.Asp1199His) c.3859G>C (p.Asp1287His) c.3865G>C (p.Asp1289His) c.1990G>C (p.Asp664His) | |
| 6 | g.129315515G>T | CA365612702 | LAMA2 | c.3595G>T (p.Asp1199Tyr) c.3859G>T (p.Asp1287Tyr) c.3865G>T (p.Asp1289Tyr) c.1990G>T (p.Asp664Tyr) | |
| 6 | g.129315516A= | CA1663079702 | LAMA2 | c.3596A= (p.Asp1199=) c.3860A= (p.Asp1287=) c.3866A= (p.Asp1289=) c.1991A= (p.Asp664=) | |
| 6 | g.129315516A>C | CA365612706 | LAMA2 | c.3596A>C (p.Asp1199Ala) c.3860A>C (p.Asp1287Ala) c.3866A>C (p.Asp1289Ala) c.1991A>C (p.Asp664Ala) | gnomAD v4 |
| 6 | g.129315516A>G | CA365612707 | LAMA2 | c.3596A>G (p.Asp1199Gly) c.3860A>G (p.Asp1287Gly) c.3866A>G (p.Asp1289Gly) c.1991A>G (p.Asp664Gly) | |
| 6 | g.129315516A>T | CA365612708 | LAMA2 | c.3596A>T (p.Asp1199Val) c.3860A>T (p.Asp1287Val) c.3866A>T (p.Asp1289Val) c.1991A>T (p.Asp664Val) | dbSNP gnomAD v4 |
| 6 | g.129315517T>A | CA365612709 | LAMA2 | c.3597T>A (p.Asp1199Glu) c.3861T>A (p.Asp1287Glu) c.3867T>A (p.Asp1289Glu) c.1992T>A (p.Asp664Glu) | |
| 6 | g.129315517T>C | CA3993313 | LAMA2 | c.3597T>C (p.Asp1199=) c.3861T>C (p.Asp1287=) c.3867T>C (p.Asp1289=) c.1992T>C (p.Asp664=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315517T>G | CA365612711 | LAMA2 | c.3597T>G (p.Asp1199Glu) c.3861T>G (p.Asp1287Glu) c.3867T>G (p.Asp1289Glu) c.1992T>G (p.Asp664Glu) | |
| 6 | g.129315517T= | CA1663079708 | LAMA2 | c.3597T= (p.Asp1199=) c.3861T= (p.Asp1287=) c.3867T= (p.Asp1289=) c.1992T= (p.Asp664=) | |
| 6 | g.129315518G>A | CA365612713 | LAMA2 | c.3598G>A (p.Glu1200Lys) c.3862G>A (p.Glu1288Lys) c.3868G>A (p.Glu1290Lys) c.1993G>A (p.Glu665Lys) | dbSNP gnomAD v4 |
| 6 | g.129315518G>C | CA365612715 | LAMA2 | c.3598G>C (p.Glu1200Gln) c.3862G>C (p.Glu1288Gln) c.3868G>C (p.Glu1290Gln) c.1993G>C (p.Glu665Gln) | |
| 6 | g.129315518G= | CA1663079710 | LAMA2 | c.3598G= (p.Glu1200=) c.3862G= (p.Glu1288=) c.3868G= (p.Glu1290=) c.1993G= (p.Glu665=) | |
| 6 | g.129315518G>T | CA365612716 | LAMA2 | c.3598G>T (p.Glu1200Ter) c.3862G>T (p.Glu1288Ter) c.3868G>T (p.Glu1290Ter) c.1993G>T (p.Glu665Ter) | |
| 6 | g.129315519A>C | CA365612717 | LAMA2 | c.3599A>C (p.Glu1200Ala) c.3863A>C (p.Glu1288Ala) c.3869A>C (p.Glu1290Ala) c.1994A>C (p.Glu665Ala) | |
| 6 | g.129315519A>G | CA365612719 | LAMA2 | c.3599A>G (p.Glu1200Gly) c.3863A>G (p.Glu1288Gly) c.3869A>G (p.Glu1290Gly) c.1994A>G (p.Glu665Gly) | |
| 6 | g.129315519A>T | CA365612720 | LAMA2 | c.3599A>T (p.Glu1200Val) c.3863A>T (p.Glu1288Val) c.3869A>T (p.Glu1290Val) c.1994A>T (p.Glu665Val) | |
| 6 | g.129315520G>A | CA451936713 | LAMA2 | c.3600G>A (p.Glu1200=) c.3864G>A (p.Glu1288=) c.3870G>A (p.Glu1290=) c.1995G>A (p.Glu665=) | gnomAD v4 COSMIC |
| 6 | g.129315520G>C | CA365612722 | LAMA2 | c.3600G>C (p.Glu1200Asp) c.3864G>C (p.Glu1288Asp) c.3870G>C (p.Glu1290Asp) c.1995G>C (p.Glu665Asp) | |
| 6 | g.129315520G>T | CA365612724 | LAMA2 | c.3600G>T (p.Glu1200Asp) c.3864G>T (p.Glu1288Asp) c.3870G>T (p.Glu1290Asp) c.1995G>T (p.Glu665Asp) | gnomAD v4 |
| 6 | g.129315521G>A | CA365612725 | LAMA2 | c.3601G>A (p.Ala1201Thr) c.3865G>A (p.Ala1289Thr) c.3871G>A (p.Ala1291Thr) c.1996G>A (p.Ala666Thr) | gnomAD v4 |
| 6 | g.129315521G>C | CA365612726 | LAMA2 | c.3601G>C (p.Ala1201Pro) c.3865G>C (p.Ala1289Pro) c.3871G>C (p.Ala1291Pro) c.1996G>C (p.Ala666Pro) | |
| 6 | g.129315521G= | CA1663079714 | LAMA2 | c.3601G= (p.Ala1201=) c.3865G= (p.Ala1289=) c.3871G= (p.Ala1291=) c.1996G= (p.Ala666=) | |
| 6 | g.129315521G>T | CA3993314 | LAMA2 | c.3601G>T (p.Ala1201Ser) c.3865G>T (p.Ala1289Ser) c.3871G>T (p.Ala1291Ser) c.1996G>T (p.Ala666Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315522C>A | CA365612728 | LAMA2 | c.3602C>A (p.Ala1201Asp) c.3866C>A (p.Ala1289Asp) c.3872C>A (p.Ala1291Asp) c.1997C>A (p.Ala666Asp) | |
| 6 | g.129315522C= | CA1663079717 | LAMA2 | c.3602C= (p.Ala1201=) c.3866C= (p.Ala1289=) c.3872C= (p.Ala1291=) c.1997C= (p.Ala666=) | |
| 6 | g.129315522C>G | CA365612731 | LAMA2 | c.3602C>G (p.Ala1201Gly) c.3866C>G (p.Ala1289Gly) c.3872C>G (p.Ala1291Gly) c.1997C>G (p.Ala666Gly) | |
| 6 | g.129315522C>T | CA365612729 | LAMA2 | c.3602C>T (p.Ala1201Val) c.3866C>T (p.Ala1289Val) c.3872C>T (p.Ala1291Val) c.1997C>T (p.Ala666Val) | ClinVar dbSNP |
| 6 | g.129315523T>A | CA451936714 | LAMA2 | c.3603T>A (p.Ala1201=) c.3867T>A (p.Ala1289=) c.3873T>A (p.Ala1291=) c.1998T>A (p.Ala666=) | |
| 6 | g.129315523T>C | CA451936715 | LAMA2 | c.3603T>C (p.Ala1201=) c.3867T>C (p.Ala1289=) c.3873T>C (p.Ala1291=) c.1998T>C (p.Ala666=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315523T>G | CA451936716 | LAMA2 | c.3603T>G (p.Ala1201=) c.3867T>G (p.Ala1289=) c.3873T>G (p.Ala1291=) c.1998T>G (p.Ala666=) | |
| 6 | g.129315523T= | CA1663079721 | LAMA2 | c.3603T= (p.Ala1201=) c.3867T= (p.Ala1289=) c.3873T= (p.Ala1291=) c.1998T= (p.Ala666=) | |
| 6 | g.129315524C>A | CA365612732 | LAMA2 | c.3604C>A (p.Leu1202Met) c.3868C>A (p.Leu1290Met) c.3874C>A (p.Leu1292Met) c.1999C>A (p.Leu667Met) | |
| 6 | g.129315524C= | CA1663079726 | LAMA2 | c.3604C= (p.Leu1202=) c.3868C= (p.Leu1290=) c.3874C= (p.Leu1292=) c.1999C= (p.Leu667=) | |
| 6 | g.129315524C>G | CA3993315 | LAMA2 | c.3604C>G (p.Leu1202Val) c.3868C>G (p.Leu1290Val) c.3874C>G (p.Leu1292Val) c.1999C>G (p.Leu667Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315524C>T | CA451936717 | LAMA2 | c.3604C>T (p.Leu1202=) c.3868C>T (p.Leu1290=) c.3874C>T (p.Leu1292=) c.1999C>T (p.Leu667=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315525T>A | CA365612734 | LAMA2 | c.3605T>A (p.Leu1202Gln) c.3869T>A (p.Leu1290Gln) c.3875T>A (p.Leu1292Gln) c.2000T>A (p.Leu667Gln) | |
| 6 | g.129315525T>C | CA365612736 | LAMA2 | c.3605T>C (p.Leu1202Pro) c.3869T>C (p.Leu1290Pro) c.3875T>C (p.Leu1292Pro) c.2000T>C (p.Leu667Pro) | dbSNP |
| 6 | g.129315525T>G | CA365612737 | LAMA2 | c.3605T>G (p.Leu1202Arg) c.3869T>G (p.Leu1290Arg) c.3875T>G (p.Leu1292Arg) c.2000T>G (p.Leu667Arg) | |
| 6 | g.129315525T= | CA1663079734 | LAMA2 | c.3605T= (p.Leu1202=) c.3869T= (p.Leu1290=) c.3875T= (p.Leu1292=) c.2000T= (p.Leu667=) | |
| 6 | g.129315526G>A | CA451936718 | LAMA2 | c.3606G>A (p.Leu1202=) c.3870G>A (p.Leu1290=) c.3876G>A (p.Leu1292=) c.2001G>A (p.Leu667=) | |
| 6 | g.129315526G>C | CA451936719 | LAMA2 | c.3606G>C (p.Leu1202=) c.3870G>C (p.Leu1290=) c.3876G>C (p.Leu1292=) c.2001G>C (p.Leu667=) | |
| 6 | g.129315526G>T | CA451936720 | LAMA2 | c.3606G>T (p.Leu1202=) c.3870G>T (p.Leu1290=) c.3876G>T (p.Leu1292=) c.2001G>T (p.Leu667=) | COSMIC |
| 6 | g.129315527C>A | CA3993316 | LAMA2 | c.3607C>A (p.Gln1203Lys) c.3871C>A (p.Gln1291Lys) c.3877C>A (p.Gln1293Lys) c.2002C>A (p.Gln668Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315527C= | CA1663079739 | LAMA2 | c.3607C= (p.Gln1203=) c.3871C= (p.Gln1291=) c.3877C= (p.Gln1293=) c.2002C= (p.Gln668=) | |
| 6 | g.129315527C>G | CA365612739 | LAMA2 | c.3607C>G (p.Gln1203Glu) c.3871C>G (p.Gln1291Glu) c.3877C>G (p.Gln1293Glu) c.2002C>G (p.Gln668Glu) | |
| 6 | g.129315527C>T | CA365612741 | LAMA2 | c.3607C>T (p.Gln1203Ter) c.3871C>T (p.Gln1291Ter) c.3877C>T (p.Gln1293Ter) c.2002C>T (p.Gln668Ter) | ClinVar gnomAD v4 |
| 6 | g.129315528A= | CA1663079745 | LAMA2 | c.3608A= (p.Gln1203=) c.3872A= (p.Gln1291=) c.3878A= (p.Gln1293=) c.2003A= (p.Gln668=) | |
| 6 | g.129315528A>C | CA365612743 | LAMA2 | c.3608A>C (p.Gln1203Pro) c.3872A>C (p.Gln1291Pro) c.3878A>C (p.Gln1293Pro) c.2003A>C (p.Gln668Pro) | |
| 6 | g.129315528A>G | CA365612744 | LAMA2 | c.3608A>G (p.Gln1203Arg) c.3872A>G (p.Gln1291Arg) c.3878A>G (p.Gln1293Arg) c.2003A>G (p.Gln668Arg) | |
| 6 | g.129315528A>T | CA365612746 | LAMA2 | c.3608A>T (p.Gln1203Leu) c.3872A>T (p.Gln1291Leu) c.3878A>T (p.Gln1293Leu) c.2003A>T (p.Gln668Leu) | dbSNP |
| 6 | g.129315529G>A | CA451936721 | LAMA2 | c.3609G>A (p.Gln1203=) c.3873G>A (p.Gln1291=) c.3879G>A (p.Gln1293=) c.2004G>A (p.Gln668=) | gnomAD v4 |
| 6 | g.129315529G>C | CA365612748 | LAMA2 | c.3609G>C (p.Gln1203His) c.3873G>C (p.Gln1291His) c.3879G>C (p.Gln1293His) c.2004G>C (p.Gln668His) | |
| 6 | g.129315529G>T | CA365612749 | LAMA2 | c.3609G>T (p.Gln1203His) c.3873G>T (p.Gln1291His) c.3879G>T (p.Gln1293His) c.2004G>T (p.Gln668His) | |
| 6 | g.129315530C>A | CA365612750 | LAMA2 | c.3610C>A (p.His1204Asn) c.3874C>A (p.His1292Asn) c.3880C>A (p.His1294Asn) c.2005C>A (p.His669Asn) | |
| 6 | g.129315530C= | CA1663079750 | LAMA2 | c.3610C= (p.His1204=) c.3874C= (p.His1292=) c.3880C= (p.His1294=) c.2005C= (p.His669=) | |
| 6 | g.129315530C>G | CA365612752 | LAMA2 | c.3610C>G (p.His1204Asp) c.3874C>G (p.His1292Asp) c.3880C>G (p.His1294Asp) c.2005C>G (p.His669Asp) | |
| 6 | g.129315530C>T | CA3993317 | LAMA2 | c.3610C>T (p.His1204Tyr) c.3874C>T (p.His1292Tyr) c.3880C>T (p.His1294Tyr) c.2005C>T (p.His669Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129315531A>C | CA365612754 | LAMA2 | c.3611A>C (p.His1204Pro) c.3875A>C (p.His1292Pro) c.3881A>C (p.His1294Pro) c.2006A>C (p.His669Pro) | |
| 6 | g.129315531A>G | CA365612756 | LAMA2 | c.3611A>G (p.His1204Arg) c.3875A>G (p.His1292Arg) c.3881A>G (p.His1294Arg) c.2006A>G (p.His669Arg) | |
| 6 | g.129315531A>T | CA365612757 | LAMA2 | c.3611A>T (p.His1204Leu) c.3875A>T (p.His1292Leu) c.3881A>T (p.His1294Leu) c.2006A>T (p.His669Leu) | |
| 6 | g.129315532C>A | CA365612759 | LAMA2 | c.3612C>A (p.His1204Gln) c.3876C>A (p.His1292Gln) c.3882C>A (p.His1294Gln) c.2007C>A (p.His669Gln) | |
| 6 | g.129315532C>G | CA365612760 | LAMA2 | c.3612C>G (p.His1204Gln) c.3876C>G (p.His1292Gln) c.3882C>G (p.His1294Gln) c.2007C>G (p.His669Gln) | |
| 6 | g.129315532C>T | CA451936722 | LAMA2 | c.3612C>T (p.His1204=) c.3876C>T (p.His1292=) c.3882C>T (p.His1294=) c.2007C>T (p.His669=) | gnomAD v4 |
| 6 | g.129315533A= | CA1663079753 | LAMA2 | c.3613A= (p.Thr1205=) c.3877A= (p.Thr1293=) c.3883A= (p.Thr1295=) c.2008A= (p.Thr670=) | |
| 6 | g.129315533A>C | CA365612762 | LAMA2 | c.3613A>C (p.Thr1205Pro) c.3877A>C (p.Thr1293Pro) c.3883A>C (p.Thr1295Pro) c.2008A>C (p.Thr670Pro) | |
| 6 | g.129315533A>G | CA153439 | LAMA2 | c.3613A>G (p.Thr1205Ala) c.3877A>G (p.Thr1293Ala) c.3883A>G (p.Thr1295Ala) c.2008A>G (p.Thr670Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315533A>T | CA365612764 | LAMA2 | c.3613A>T (p.Thr1205Ser) c.3877A>T (p.Thr1293Ser) c.3883A>T (p.Thr1295Ser) c.2008A>T (p.Thr670Ser) | |
| 6 | g.129315534C>A | CA365612766 | LAMA2 | c.3614C>A (p.Thr1205Lys) c.3878C>A (p.Thr1293Lys) c.3884C>A (p.Thr1295Lys) c.2009C>A (p.Thr670Lys) | |
| 6 | g.129315534C= | CA1663079762 | LAMA2 | c.3614C= (p.Thr1205=) c.3878C= (p.Thr1293=) c.3884C= (p.Thr1295=) c.2009C= (p.Thr670=) | |
| 6 | g.129315534C>G | CA365612767 | LAMA2 | c.3614C>G (p.Thr1205Arg) c.3878C>G (p.Thr1293Arg) c.3884C>G (p.Thr1295Arg) c.2009C>G (p.Thr670Arg) | gnomAD v4 |
| 6 | g.129315534C>T | CA146913982 | LAMA2 | c.3614C>T (p.Thr1205Met) c.3878C>T (p.Thr1293Met) c.3884C>T (p.Thr1295Met) c.2009C>T (p.Thr670Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129315535G>A | CA3993318 | LAMA2 | c.3615G>A (p.Thr1205=) c.3879G>A (p.Thr1293=) c.3885G>A (p.Thr1295=) c.2010G>A (p.Thr670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315535G>C | CA451936723 | LAMA2 | c.3615G>C (p.Thr1205=) c.3879G>C (p.Thr1293=) c.3885G>C (p.Thr1295=) c.2010G>C (p.Thr670=) | |
| 6 | g.129315535G= | CA1663079771 | LAMA2 | c.3615G= (p.Thr1205=) c.3879G= (p.Thr1293=) c.3885G= (p.Thr1295=) c.2010G= (p.Thr670=) | |
| 6 | g.129315535G>T | CA451936724 | LAMA2 | c.3615G>T (p.Thr1205=) c.3879G>T (p.Thr1293=) c.3885G>T (p.Thr1295=) c.2010G>T (p.Thr670=) | gnomAD v4 |
| 6 | g.129315536A= | CA1663079776 | LAMA2 | c.3616A= (p.Thr1206=) c.3880A= (p.Thr1294=) c.3886A= (p.Thr1296=) c.2011A= (p.Thr671=) | |
| 6 | g.129315536A>C | CA365612771 | LAMA2 | c.3616A>C (p.Thr1206Pro) c.3880A>C (p.Thr1294Pro) c.3886A>C (p.Thr1296Pro) c.2011A>C (p.Thr671Pro) | |
| 6 | g.129315536A>G | CA3993319 | LAMA2 | c.3616A>G (p.Thr1206Ala) c.3880A>G (p.Thr1294Ala) c.3886A>G (p.Thr1296Ala) c.2011A>G (p.Thr671Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315536A>T | CA365612770 | LAMA2 | c.3616A>T (p.Thr1206Ser) c.3880A>T (p.Thr1294Ser) c.3886A>T (p.Thr1296Ser) c.2011A>T (p.Thr671Ser) | |
| 6 | g.129315537C>A | CA365612773 | LAMA2 | c.3617C>A (p.Thr1206Asn) c.3881C>A (p.Thr1294Asn) c.3887C>A (p.Thr1296Asn) c.2012C>A (p.Thr671Asn) | |
| 6 | g.129315537C>G | CA365612774 | LAMA2 | c.3617C>G (p.Thr1206Ser) c.3881C>G (p.Thr1294Ser) c.3887C>G (p.Thr1296Ser) c.2012C>G (p.Thr671Ser) | |
| 6 | g.129315537C>T | CA365612775 | LAMA2 | c.3617C>T (p.Thr1206Ile) c.3881C>T (p.Thr1294Ile) c.3887C>T (p.Thr1296Ile) c.2012C>T (p.Thr671Ile) | |
| 6 | g.129315538C>A | CA451936725 | LAMA2 | c.3618C>A (p.Thr1206=) c.3882C>A (p.Thr1294=) c.3888C>A (p.Thr1296=) c.2013C>A (p.Thr671=) | ClinVar gnomAD v4 |
| 6 | g.129315538C= | CA1663079780 | LAMA2 | c.3618C= (p.Thr1206=) c.3882C= (p.Thr1294=) c.3888C= (p.Thr1296=) c.2013C= (p.Thr671=) | |
| 6 | g.129315538C>G | CA451936726 | LAMA2 | c.3618C>G (p.Thr1206=) c.3882C>G (p.Thr1294=) c.3888C>G (p.Thr1296=) c.2013C>G (p.Thr671=) | |
| 6 | g.129315538C>T | CA451936727 | LAMA2 | c.3618C>T (p.Thr1206=) c.3882C>T (p.Thr1294=) c.3888C>T (p.Thr1296=) c.2013C>T (p.Thr671=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315539A= | CA1663079787 | LAMA2 | c.3619A= (p.Thr1207=) c.3883A= (p.Thr1295=) c.3889A= (p.Thr1297=) c.2014A= (p.Thr672=) | |
| 6 | g.129315539A>C | CA365612776 | LAMA2 | c.3619A>C (p.Thr1207Pro) c.3883A>C (p.Thr1295Pro) c.3889A>C (p.Thr1297Pro) c.2014A>C (p.Thr672Pro) | |
| 6 | g.129315539A>G | CA365612778 | LAMA2 | c.3619A>G (p.Thr1207Ala) c.3883A>G (p.Thr1295Ala) c.3889A>G (p.Thr1297Ala) c.2014A>G (p.Thr672Ala) | |
| 6 | g.129315539A>T | CA365612779 | LAMA2 | c.3619A>T (p.Thr1207Ser) c.3883A>T (p.Thr1295Ser) c.3889A>T (p.Thr1297Ser) c.2014A>T (p.Thr672Ser) | dbSNP gnomAD v4 |
| 6 | g.129315539_129315562delinsACCAAGGGCATTGTTTTTCAACAT | CA1663079785 | LAMA2 | c.3619_3642delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1207=) c.3883_3906delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1295=) c.3889_3912delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr1297=) c.2014_2037delinsACCAAGGGCATTGTTTTTCAACAT (p.Thr672=) | |
| 6 | g.129315540C>A | CA365612782 | LAMA2 | c.3620C>A (p.Thr1207Asn) c.3884C>A (p.Thr1295Asn) c.3890C>A (p.Thr1297Asn) c.2015C>A (p.Thr672Asn) | |
| 6 | g.129315540C>G | CA365612784 | LAMA2 | c.3620C>G (p.Thr1207Ser) c.3884C>G (p.Thr1295Ser) c.3890C>G (p.Thr1297Ser) c.2015C>G (p.Thr672Ser) | |
| 6 | g.129315540C>T | CA365612785 | LAMA2 | c.3620C>T (p.Thr1207Ile) c.3884C>T (p.Thr1295Ile) c.3890C>T (p.Thr1297Ile) c.2015C>T (p.Thr672Ile) | gnomAD v4 |
| 6 | g.129315543_129315565del | CA234201 | LAMA2 | c.3623_3645del (p.Lys1208ArgfsTer27) c.3887_3909del (p.Lys1296ArgfsTer27) c.3893_3915del (p.Lys1298ArgfsTer27) c.2018_2040del (p.Lys673ArgfsTer27) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315541C>A | CA451936728 | LAMA2 | c.3621C>A (p.Thr1207=) c.3885C>A (p.Thr1295=) c.3891C>A (p.Thr1297=) c.2016C>A (p.Thr672=) | ClinVar |
| 6 | g.129315541C= | CA1663079794 | LAMA2 | c.3621C= (p.Thr1207=) c.3885C= (p.Thr1295=) c.3891C= (p.Thr1297=) c.2016C= (p.Thr672=) | |
| 6 | g.129315541C>G | CA451936729 | LAMA2 | c.3621C>G (p.Thr1207=) c.3885C>G (p.Thr1295=) c.3891C>G (p.Thr1297=) c.2016C>G (p.Thr672=) | gnomAD v4 |
| 6 | g.129315541C>T | CA451936730 | LAMA2 | c.3621C>T (p.Thr1207=) c.3885C>T (p.Thr1295=) c.3891C>T (p.Thr1297=) c.2016C>T (p.Thr672=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315542A>C | CA365612792 | LAMA2 | c.3622A>C (p.Lys1208Gln) c.3886A>C (p.Lys1296Gln) c.3892A>C (p.Lys1298Gln) c.2017A>C (p.Lys673Gln) | |
| 6 | g.129315542A>G | CA365612790 | LAMA2 | c.3622A>G (p.Lys1208Glu) c.3886A>G (p.Lys1296Glu) c.3892A>G (p.Lys1298Glu) c.2017A>G (p.Lys673Glu) | |
| 6 | g.129315542A>T | CA365612789 | LAMA2 | c.3622A>T (p.Lys1208Ter) c.3886A>T (p.Lys1296Ter) c.3892A>T (p.Lys1298Ter) c.2017A>T (p.Lys673Ter) | |
| 6 | g.129315543A>C | CA365612793 | LAMA2 | c.3623A>C (p.Lys1208Thr) c.3887A>C (p.Lys1296Thr) c.3893A>C (p.Lys1298Thr) c.2018A>C (p.Lys673Thr) | |
| 6 | g.129315543A>G | CA365612795 | LAMA2 | c.3623A>G (p.Lys1208Arg) c.3887A>G (p.Lys1296Arg) c.3893A>G (p.Lys1298Arg) c.2018A>G (p.Lys673Arg) | |
| 6 | g.129315543A>T | CA365612796 | LAMA2 | c.3623A>T (p.Lys1208Met) c.3887A>T (p.Lys1296Met) c.3893A>T (p.Lys1298Met) c.2018A>T (p.Lys673Met) | |
| 6 | g.129315544G>A | CA3993320 | LAMA2 | c.3624G>A (p.Lys1208=) c.3888G>A (p.Lys1296=) c.3894G>A (p.Lys1298=) c.2019G>A (p.Lys673=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315544G>C | CA365612798 | LAMA2 | c.3624G>C (p.Lys1208Asn) c.3888G>C (p.Lys1296Asn) c.3894G>C (p.Lys1298Asn) c.2019G>C (p.Lys673Asn) | |
| 6 | g.129315544G= | CA1663079799 | LAMA2 | c.3624G= (p.Lys1208=) c.3888G= (p.Lys1296=) c.3894G= (p.Lys1298=) c.2019G= (p.Lys673=) | |
| 6 | g.129315544G>T | CA365612800 | LAMA2 | c.3624G>T (p.Lys1208Asn) c.3888G>T (p.Lys1296Asn) c.3894G>T (p.Lys1298Asn) c.2019G>T (p.Lys673Asn) | |
| 6 | g.129315546del | CA2580074929 | LAMA2 | c.3626del (p.Gly1209AlafsTer15) c.3890del (p.Gly1297AlafsTer15) c.3896del (p.Gly1299AlafsTer15) c.2021del (p.Gly674AlafsTer15) | ClinVar gnomAD v4 |
| 6 | g.129315545G>A | CA365612802 | LAMA2 | c.3625G>A (p.Gly1209Ser) c.3889G>A (p.Gly1297Ser) c.3895G>A (p.Gly1299Ser) c.2020G>A (p.Gly674Ser) | |
| 6 | g.129315545G>C | CA365612803 | LAMA2 | c.3625G>C (p.Gly1209Arg) c.3889G>C (p.Gly1297Arg) c.3895G>C (p.Gly1299Arg) c.2020G>C (p.Gly674Arg) | |
| 6 | g.129315545G>T | CA365612804 | LAMA2 | c.3625G>T (p.Gly1209Cys) c.3889G>T (p.Gly1297Cys) c.3895G>T (p.Gly1299Cys) c.2020G>T (p.Gly674Cys) | |
| 6 | g.129315546G>A | CA365612806 | LAMA2 | c.3626G>A (p.Gly1209Asp) c.3890G>A (p.Gly1297Asp) c.3896G>A (p.Gly1299Asp) c.2021G>A (p.Gly674Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315546G>C | CA365612808 | LAMA2 | c.3626G>C (p.Gly1209Ala) c.3890G>C (p.Gly1297Ala) c.3896G>C (p.Gly1299Ala) c.2021G>C (p.Gly674Ala) | |
| 6 | g.129315546G= | CA1663079805 | LAMA2 | c.3626G= (p.Gly1209=) c.3890G= (p.Gly1297=) c.3896G= (p.Gly1299=) c.2021G= (p.Gly674=) | |
| 6 | g.129315546G>T | CA365612810 | LAMA2 | c.3626G>T (p.Gly1209Val) c.3890G>T (p.Gly1297Val) c.3896G>T (p.Gly1299Val) c.2021G>T (p.Gly674Val) | dbSNP |
| 6 | g.129315547C>A | CA451936731 | LAMA2 | c.3627C>A (p.Gly1209=) c.3891C>A (p.Gly1297=) c.3897C>A (p.Gly1299=) c.2022C>A (p.Gly674=) | dbSNP |
| 6 | g.129315547C= | CA1663079808 | LAMA2 | c.3627C= (p.Gly1209=) c.3891C= (p.Gly1297=) c.3897C= (p.Gly1299=) c.2022C= (p.Gly674=) | |
| 6 | g.129315547C>G | CA451936732 | LAMA2 | c.3627C>G (p.Gly1209=) c.3891C>G (p.Gly1297=) c.3897C>G (p.Gly1299=) c.2022C>G (p.Gly674=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315547C>T | CA451936733 | LAMA2 | c.3627C>T (p.Gly1209=) c.3891C>T (p.Gly1297=) c.3897C>T (p.Gly1299=) c.2022C>T (p.Gly674=) | |
| 6 | g.129315548A= | CA1663079822 | LAMA2 | c.3628A= (p.Ile1210=) c.3892A= (p.Ile1298=) c.3898A= (p.Ile1300=) c.2023A= (p.Ile675=) | |
| 6 | g.129315548A>C | CA365612811 | LAMA2 | c.3628A>C (p.Ile1210Leu) c.3892A>C (p.Ile1298Leu) c.3898A>C (p.Ile1300Leu) c.2023A>C (p.Ile675Leu) | |
| 6 | g.129315548A>G | CA3993321 | LAMA2 | c.3628A>G (p.Ile1210Val) c.3892A>G (p.Ile1298Val) c.3898A>G (p.Ile1300Val) c.2023A>G (p.Ile675Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315548A>T | CA365612813 | LAMA2 | c.3628A>T (p.Ile1210Phe) c.3892A>T (p.Ile1298Phe) c.3898A>T (p.Ile1300Phe) c.2023A>T (p.Ile675Phe) | |
| 6 | g.129315548_129315549delinsAT | CA1663079817 | LAMA2 | c.3628_3629delinsAT (p.Ile1210=) c.3892_3893delinsAT (p.Ile1298=) c.3898_3899delinsAT (p.Ile1300=) c.2023_2024delinsAT (p.Ile675=) | |
| 6 | g.129315549T>A | CA365612816 | LAMA2 | c.3629T>A (p.Ile1210Asn) c.3893T>A (p.Ile1298Asn) c.3899T>A (p.Ile1300Asn) c.2024T>A (p.Ile675Asn) | dbSNP |
| 6 | g.129315549T>C | CA365612818 | LAMA2 | c.3629T>C (p.Ile1210Thr) c.3893T>C (p.Ile1298Thr) c.3899T>C (p.Ile1300Thr) c.2024T>C (p.Ile675Thr) | |
| 6 | g.129315549T>G | CA365612820 | LAMA2 | c.3629T>G (p.Ile1210Ser) c.3893T>G (p.Ile1298Ser) c.3899T>G (p.Ile1300Ser) c.2024T>G (p.Ile675Ser) | |
| 6 | g.129315550del | CA220761 | LAMA2 | c.3630del (p.Ile1210MetfsTer14) c.3894del (p.Ile1298MetfsTer14) c.3900del (p.Ile1300MetfsTer14) c.2025del (p.Ile675MetfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315550T>A | CA451936734 | LAMA2 | c.3630T>A (p.Ile1210=) c.3894T>A (p.Ile1298=) c.3900T>A (p.Ile1300=) c.2025T>A (p.Ile675=) | |
| 6 | g.129315550T>C | CA451936735 | LAMA2 | c.3630T>C (p.Ile1210=) c.3894T>C (p.Ile1298=) c.3900T>C (p.Ile1300=) c.2025T>C (p.Ile675=) | |
| 6 | g.129315550T>G | CA365612821 | LAMA2 | c.3630T>G (p.Ile1210Met) c.3894T>G (p.Ile1298Met) c.3900T>G (p.Ile1300Met) c.2025T>G (p.Ile675Met) | |
| 6 | g.129315551G>A | CA365612823 | LAMA2 | c.3631G>A (p.Val1211Ile) c.3895G>A (p.Val1299Ile) c.3901G>A (p.Val1301Ile) c.2026G>A (p.Val676Ile) | gnomAD v4 |
| 6 | g.129315551G>C | CA365612825 | LAMA2 | c.3631G>C (p.Val1211Leu) c.3895G>C (p.Val1299Leu) c.3901G>C (p.Val1301Leu) c.2026G>C (p.Val676Leu) | |
| 6 | g.129315551G>T | CA365612826 | LAMA2 | c.3631G>T (p.Val1211Phe) c.3895G>T (p.Val1299Phe) c.3901G>T (p.Val1301Phe) c.2026G>T (p.Val676Phe) | |
| 6 | g.129315551_129315552delinsGT | CA1663079836 | LAMA2 | c.3631_3632delinsGT (p.Val1211=) c.3895_3896delinsGT (p.Val1299=) c.3901_3902delinsGT (p.Val1301=) c.2026_2027delinsGT (p.Val676=) | |
| 6 | g.129315552T>A | CA365612828 | LAMA2 | c.3632T>A (p.Val1211Asp) c.3896T>A (p.Val1299Asp) c.3902T>A (p.Val1301Asp) c.2027T>A (p.Val676Asp) | |
| 6 | g.129315552T>C | CA365612829 | LAMA2 | c.3632T>C (p.Val1211Ala) c.3896T>C (p.Val1299Ala) c.3902T>C (p.Val1301Ala) c.2027T>C (p.Val676Ala) | COSMIC |
| 6 | g.129315552T>G | CA365612831 | LAMA2 | c.3632T>G (p.Val1211Gly) c.3896T>G (p.Val1299Gly) c.3902T>G (p.Val1301Gly) c.2027T>G (p.Val676Gly) | gnomAD v4 |
| 6 | g.129315556dup | CA2680313963 | LAMA2 | c.3636dup (p.Gln1213SerfsTer30) c.3900dup (p.Gln1301SerfsTer30) c.3906dup (p.Gln1303SerfsTer30) c.2031dup (p.Gln678SerfsTer30) | gnomAD v4 |
| 6 | g.129315556del | CA16618241 | LAMA2 | c.3636del (p.Gln1213AsnfsTer11) c.3900del (p.Gln1301AsnfsTer11) c.3906del (p.Gln1303AsnfsTer11) c.2031del (p.Gln678AsnfsTer11) | ClinVar dbSNP |
| 6 | g.129315553T>A | CA451936736 | LAMA2 | c.3633T>A (p.Val1211=) c.3897T>A (p.Val1299=) c.3903T>A (p.Val1301=) c.2028T>A (p.Val676=) | |
| 6 | g.129315553T>C | CA451936738 | LAMA2 | c.3633T>C (p.Val1211=) c.3897T>C (p.Val1299=) c.3903T>C (p.Val1301=) c.2028T>C (p.Val676=) | |
| 6 | g.129315553T>G | CA451936737 | LAMA2 | c.3633T>G (p.Val1211=) c.3897T>G (p.Val1299=) c.3903T>G (p.Val1301=) c.2028T>G (p.Val676=) | |
| 6 | g.129315554T>A | CA365612833 | LAMA2 | c.3634T>A (p.Phe1212Ile) c.3898T>A (p.Phe1300Ile) c.3904T>A (p.Phe1302Ile) c.2029T>A (p.Phe677Ile) | |
| 6 | g.129315554T>C | CA365612834 | LAMA2 | c.3634T>C (p.Phe1212Leu) c.3898T>C (p.Phe1300Leu) c.3904T>C (p.Phe1302Leu) c.2029T>C (p.Phe677Leu) | |
| 6 | g.129315554T>G | CA365612835 | LAMA2 | c.3634T>G (p.Phe1212Val) c.3898T>G (p.Phe1300Val) c.3904T>G (p.Phe1302Val) c.2029T>G (p.Phe677Val) | |
| 6 | g.129315555T>A | CA365612840 | LAMA2 | c.3635T>A (p.Phe1212Tyr) c.3899T>A (p.Phe1300Tyr) c.3905T>A (p.Phe1302Tyr) c.2030T>A (p.Phe677Tyr) | |
| 6 | g.129315555T>C | CA365612837 | LAMA2 | c.3635T>C (p.Phe1212Ser) c.3899T>C (p.Phe1300Ser) c.3905T>C (p.Phe1302Ser) c.2030T>C (p.Phe677Ser) | |
| 6 | g.129315555T>G | CA365612839 | LAMA2 | c.3635T>G (p.Phe1212Cys) c.3899T>G (p.Phe1300Cys) c.3905T>G (p.Phe1302Cys) c.2030T>G (p.Phe677Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315555T= | CA1663079853 | LAMA2 | c.3635T= (p.Phe1212=) c.3899T= (p.Phe1300=) c.3905T= (p.Phe1302=) c.2030T= (p.Phe677=) | |
| 6 | g.129315556T>A | CA365612842 | LAMA2 | c.3636T>A (p.Phe1212Leu) c.3900T>A (p.Phe1300Leu) c.3906T>A (p.Phe1302Leu) c.2031T>A (p.Phe677Leu) | dbSNP gnomAD v2 |
| 6 | g.129315556T>C | CA451936739 | LAMA2 | c.3636T>C (p.Phe1212=) c.3900T>C (p.Phe1300=) c.3906T>C (p.Phe1302=) c.2031T>C (p.Phe677=) | |
| 6 | g.129315556T>G | CA365612843 | LAMA2 | c.3636T>G (p.Phe1212Leu) c.3900T>G (p.Phe1300Leu) c.3906T>G (p.Phe1302Leu) c.2031T>G (p.Phe677Leu) | |
| 6 | g.129315556T= | CA1663079858 | LAMA2 | c.3636T= (p.Phe1212=) c.3900T= (p.Phe1300=) c.3906T= (p.Phe1302=) c.2031T= (p.Phe677=) | |
| 6 | g.129315557C>A | CA365612845 | LAMA2 | c.3637C>A (p.Gln1213Lys) c.3901C>A (p.Gln1301Lys) c.3907C>A (p.Gln1303Lys) c.2032C>A (p.Gln678Lys) | gnomAD v4 |
| 6 | g.129315557C>G | CA365612847 | LAMA2 | c.3637C>G (p.Gln1213Glu) c.3901C>G (p.Gln1301Glu) c.3907C>G (p.Gln1303Glu) c.2032C>G (p.Gln678Glu) | |
| 6 | g.129315557C>T | CA365612848 | LAMA2 | c.3637C>T (p.Gln1213Ter) c.3901C>T (p.Gln1301Ter) c.3907C>T (p.Gln1303Ter) c.2032C>T (p.Gln678Ter) | gnomAD v4 |
| 6 | g.129315558A>C | CA365612850 | LAMA2 | c.3638A>C (p.Gln1213Pro) c.3902A>C (p.Gln1301Pro) c.3908A>C (p.Gln1303Pro) c.2033A>C (p.Gln678Pro) | |
| 6 | g.129315558A>G | CA365612851 | LAMA2 | c.3638A>G (p.Gln1213Arg) c.3902A>G (p.Gln1301Arg) c.3908A>G (p.Gln1303Arg) c.2033A>G (p.Gln678Arg) | |
| 6 | g.129315558A>T | CA365612853 | LAMA2 | c.3638A>T (p.Gln1213Leu) c.3902A>T (p.Gln1301Leu) c.3908A>T (p.Gln1303Leu) c.2033A>T (p.Gln678Leu) | |
| 6 | g.129315559A>C | CA365612855 | LAMA2 | c.3639A>C (p.Gln1213His) c.3903A>C (p.Gln1301His) c.3909A>C (p.Gln1303His) c.2034A>C (p.Gln678His) | |
| 6 | g.129315559A>G | CA451936740 | LAMA2 | c.3639A>G (p.Gln1213=) c.3903A>G (p.Gln1301=) c.3909A>G (p.Gln1303=) c.2034A>G (p.Gln678=) | COSMIC |
| 6 | g.129315559A>T | CA365612856 | LAMA2 | c.3639A>T (p.Gln1213His) c.3903A>T (p.Gln1301His) c.3909A>T (p.Gln1303His) c.2034A>T (p.Gln678His) | |
| 6 | g.129315560C>A | CA365612861 | LAMA2 | c.3640C>A (p.His1214Asn) c.3904C>A (p.His1302Asn) c.3910C>A (p.His1304Asn) c.2035C>A (p.His679Asn) | gnomAD v4 |
| 6 | g.129315560C= | CA1663079861 | LAMA2 | c.3640C= (p.His1214=) c.3904C= (p.His1302=) c.3910C= (p.His1304=) c.2035C= (p.His679=) | |
| 6 | g.129315560C>G | CA365612860 | LAMA2 | c.3640C>G (p.His1214Asp) c.3904C>G (p.His1302Asp) c.3910C>G (p.His1304Asp) c.2035C>G (p.His679Asp) | |
| 6 | g.129315560C>T | CA365612858 | LAMA2 | c.3640C>T (p.His1214Tyr) c.3904C>T (p.His1302Tyr) c.3910C>T (p.His1304Tyr) c.2035C>T (p.His679Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315561A>C | CA365612863 | LAMA2 | c.3641A>C (p.His1214Pro) c.3905A>C (p.His1302Pro) c.3911A>C (p.His1304Pro) c.2036A>C (p.His679Pro) | |
| 6 | g.129315561A>G | CA365612864 | LAMA2 | c.3641A>G (p.His1214Arg) c.3905A>G (p.His1302Arg) c.3911A>G (p.His1304Arg) c.2036A>G (p.His679Arg) | gnomAD v4 |
| 6 | g.129315561A>T | CA365612865 | LAMA2 | c.3641A>T (p.His1214Leu) c.3905A>T (p.His1302Leu) c.3911A>T (p.His1304Leu) c.2036A>T (p.His679Leu) | |
| 6 | g.129315562T>A | CA365612867 | LAMA2 | c.3642T>A (p.His1214Gln) c.3906T>A (p.His1302Gln) c.3912T>A (p.His1304Gln) c.2037T>A (p.His679Gln) | |
| 6 | g.129315562T>C | CA451936741 | LAMA2 | c.3642T>C (p.His1214=) c.3906T>C (p.His1302=) c.3912T>C (p.His1304=) c.2037T>C (p.His679=) | |
| 6 | g.129315562T>G | CA365612869 | LAMA2 | c.3642T>G (p.His1214Gln) c.3906T>G (p.His1302Gln) c.3912T>G (p.His1304Gln) c.2037T>G (p.His679Gln) | |
| 6 | g.129315563C>A | CA365612870 | LAMA2 | c.3643C>A (p.Pro1215Thr) c.3907C>A (p.Pro1303Thr) c.3913C>A (p.Pro1305Thr) c.2038C>A (p.Pro680Thr) | |
| 6 | g.129315563C>G | CA365612872 | LAMA2 | c.3643C>G (p.Pro1215Ala) c.3907C>G (p.Pro1303Ala) c.3913C>G (p.Pro1305Ala) c.2038C>G (p.Pro680Ala) | gnomAD v4 |
| 6 | g.129315563C>T | CA365612873 | LAMA2 | c.3643C>T (p.Pro1215Ser) c.3907C>T (p.Pro1303Ser) c.3913C>T (p.Pro1305Ser) c.2038C>T (p.Pro680Ser) | |
| 6 | g.129315564C>A | CA365612875 | LAMA2 | c.3644C>A (p.Pro1215Gln) c.3908C>A (p.Pro1303Gln) c.3914C>A (p.Pro1305Gln) c.2039C>A (p.Pro680Gln) | |
| 6 | g.129315564C>G | CA365612877 | LAMA2 | c.3644C>G (p.Pro1215Arg) c.3908C>G (p.Pro1303Arg) c.3914C>G (p.Pro1305Arg) c.2039C>G (p.Pro680Arg) | |
| 6 | g.129315564C>T | CA365612878 | LAMA2 | c.3644C>T (p.Pro1215Leu) c.3908C>T (p.Pro1303Leu) c.3914C>T (p.Pro1305Leu) c.2039C>T (p.Pro680Leu) | |
| 6 | g.129315565A= | CA1663079869 | LAMA2 | c.3645A= (p.Pro1215=) c.3909A= (p.Pro1303=) c.3915A= (p.Pro1305=) c.2040A= (p.Pro680=) | |
| 6 | g.129315565A>C | CA451936742 | LAMA2 | c.3645A>C (p.Pro1215=) c.3909A>C (p.Pro1303=) c.3915A>C (p.Pro1305=) c.2040A>C (p.Pro680=) | |
| 6 | g.129315565A>G | CA242502 | LAMA2 | c.3645A>G (p.Pro1215=) c.3909A>G (p.Pro1303=) c.3915A>G (p.Pro1305=) c.2040A>G (p.Pro680=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315565A>T | CA451936743 | LAMA2 | c.3645A>T (p.Pro1215=) c.3909A>T (p.Pro1303=) c.3915A>T (p.Pro1305=) c.2040A>T (p.Pro680=) | dbSNP |
| 6 | g.129315566G>A | CA365612883 | LAMA2 | c.3646G>A (p.Glu1216Lys) c.3910G>A (p.Glu1304Lys) c.3916G>A (p.Glu1306Lys) c.2041G>A (p.Glu681Lys) | |
| 6 | g.129315566G>C | CA365612880 | LAMA2 | c.3646G>C (p.Glu1216Gln) c.3910G>C (p.Glu1304Gln) c.3916G>C (p.Glu1306Gln) c.2041G>C (p.Glu681Gln) | |
| 6 | g.129315566G= | CA1663079872 | LAMA2 | c.3646G= (p.Glu1216=) c.3910G= (p.Glu1304=) c.3916G= (p.Glu1306=) c.2041G= (p.Glu681=) | |
| 6 | g.129315566G>T | CA365612882 | LAMA2 | c.3646G>T (p.Glu1216Ter) c.3910G>T (p.Glu1304Ter) c.3916G>T (p.Glu1306Ter) c.2041G>T (p.Glu681Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315567A>C | CA365612885 | LAMA2 | c.3647A>C (p.Glu1216Ala) c.3911A>C (p.Glu1304Ala) c.3917A>C (p.Glu1306Ala) c.2042A>C (p.Glu681Ala) | |
| 6 | g.129315567A>G | CA365612886 | LAMA2 | c.3647A>G (p.Glu1216Gly) c.3911A>G (p.Glu1304Gly) c.3917A>G (p.Glu1306Gly) c.2042A>G (p.Glu681Gly) | |
| 6 | g.129315567A>T | CA365612887 | LAMA2 | c.3647A>T (p.Glu1216Val) c.3911A>T (p.Glu1304Val) c.3917A>T (p.Glu1306Val) c.2042A>T (p.Glu681Val) | |
| 6 | g.129315568G>A | CA451936744 | LAMA2 | c.3648G>A (p.Glu1216=) c.3912G>A (p.Glu1304=) c.3918G>A (p.Glu1306=) c.2043G>A (p.Glu681=) | |
| 6 | g.129315568G>C | CA365612889 | LAMA2 | c.3648G>C (p.Glu1216Asp) c.3912G>C (p.Glu1304Asp) c.3918G>C (p.Glu1306Asp) c.2043G>C (p.Glu681Asp) | |
| 6 | g.129315568G>T | CA365612891 | LAMA2 | c.3648G>T (p.Glu1216Asp) c.3912G>T (p.Glu1304Asp) c.3918G>T (p.Glu1306Asp) c.2043G>T (p.Glu681Asp) | |
| 6 | g.129315569A= | CA1663079876 | LAMA2 | c.3649A= (p.Ile1217=) c.3913A= (p.Ile1305=) c.3919A= (p.Ile1307=) c.2044A= (p.Ile682=) | |
| 6 | g.129315569A>C | CA365612892 | LAMA2 | c.3649A>C (p.Ile1217Leu) c.3913A>C (p.Ile1305Leu) c.3919A>C (p.Ile1307Leu) c.2044A>C (p.Ile682Leu) | |
| 6 | g.129315569A>G | CA365612894 | LAMA2 | c.3649A>G (p.Ile1217Val) c.3913A>G (p.Ile1305Val) c.3919A>G (p.Ile1307Val) c.2044A>G (p.Ile682Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315569A>T | CA365612895 | LAMA2 | c.3649A>T (p.Ile1217Phe) c.3913A>T (p.Ile1305Phe) c.3919A>T (p.Ile1307Phe) c.2044A>T (p.Ile682Phe) | |
| 6 | g.129315569_129315571del | CA2680313964 | LAMA2 | c.3649_3651del (p.Ile1217del) c.3913_3915del (p.Ile1305del) c.3919_3921del (p.Ile1307del) c.2044_2046del (p.Ile682del) | gnomAD v4 |
| 6 | g.129315570T>A | CA365612896 | LAMA2 | c.3650T>A (p.Ile1217Asn) c.3914T>A (p.Ile1305Asn) c.3920T>A (p.Ile1307Asn) c.2045T>A (p.Ile682Asn) | |
| 6 | g.129315570T>C | CA3993322 | LAMA2 | c.3650T>C (p.Ile1217Thr) c.3914T>C (p.Ile1305Thr) c.3920T>C (p.Ile1307Thr) c.2045T>C (p.Ile682Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129315570T>G | CA365612897 | LAMA2 | c.3650T>G (p.Ile1217Ser) c.3914T>G (p.Ile1305Ser) c.3920T>G (p.Ile1307Ser) c.2045T>G (p.Ile682Ser) | |
| 6 | g.129315570T= | CA1663079882 | LAMA2 | c.3650T= (p.Ile1217=) c.3914T= (p.Ile1305=) c.3920T= (p.Ile1307=) c.2045T= (p.Ile682=) | |
| 6 | g.129315571del | CA2695206985 | LAMA2 | c.3651del (p.Ile1217MetfsTer7) c.3915del (p.Ile1305MetfsTer7) c.3921del (p.Ile1307MetfsTer7) c.2046del (p.Ile682MetfsTer7) | |
| 6 | g.129315571T>A | CA451936745 | LAMA2 | c.3651T>A (p.Ile1217=) c.3915T>A (p.Ile1305=) c.3921T>A (p.Ile1307=) c.2046T>A (p.Ile682=) | gnomAD v4 |
| 6 | g.129315571T>C | CA451936746 | LAMA2 | c.3651T>C (p.Ile1217=) c.3915T>C (p.Ile1305=) c.3921T>C (p.Ile1307=) c.2046T>C (p.Ile682=) | |
| 6 | g.129315571T>G | CA365612899 | LAMA2 | c.3651T>G (p.Ile1217Met) c.3915T>G (p.Ile1305Met) c.3921T>G (p.Ile1307Met) c.2046T>G (p.Ile682Met) | |
| 6 | g.129315572G>A | CA365612902 | LAMA2 | c.3652G>A (p.Val1218Ile) c.3916G>A (p.Val1306Ile) c.3922G>A (p.Val1308Ile) c.2047G>A (p.Val683Ile) | dbSNP |
| 6 | g.129315572G>C | CA365612904 | LAMA2 | c.3652G>C (p.Val1218Leu) c.3916G>C (p.Val1306Leu) c.3922G>C (p.Val1308Leu) c.2047G>C (p.Val683Leu) | |
| 6 | g.129315572G= | CA1663079886 | LAMA2 | c.3652G= (p.Val1218=) c.3916G= (p.Val1306=) c.3922G= (p.Val1308=) c.2047G= (p.Val683=) | |
| 6 | g.129315572G>T | CA365612901 | LAMA2 | c.3652G>T (p.Val1218Phe) c.3916G>T (p.Val1306Phe) c.3922G>T (p.Val1308Phe) c.2047G>T (p.Val683Phe) | |
| 6 | g.129315573T>A | CA365612906 | LAMA2 | c.3653T>A (p.Val1218Asp) c.3917T>A (p.Val1306Asp) c.3923T>A (p.Val1308Asp) c.2048T>A (p.Val683Asp) | |
| 6 | g.129315573T>C | CA365612905 | LAMA2 | c.3653T>C (p.Val1218Ala) c.3917T>C (p.Val1306Ala) c.3923T>C (p.Val1308Ala) c.2048T>C (p.Val683Ala) | gnomAD v4 |
| 6 | g.129315573T>G | CA365612908 | LAMA2 | c.3653T>G (p.Val1218Gly) c.3917T>G (p.Val1306Gly) c.3923T>G (p.Val1308Gly) c.2048T>G (p.Val683Gly) | |
| 6 | g.129315574T>A | CA146914034 | LAMA2 | c.3654T>A (p.Val1218=) c.3918T>A (p.Val1306=) c.3924T>A (p.Val1308=) c.2049T>A (p.Val683=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315574T>C | CA451936748 | LAMA2 | c.3654T>C (p.Val1218=) c.3918T>C (p.Val1306=) c.3924T>C (p.Val1308=) c.2049T>C (p.Val683=) | |
| 6 | g.129315574T>G | CA451936747 | LAMA2 | c.3654T>G (p.Val1218=) c.3918T>G (p.Val1306=) c.3924T>G (p.Val1308=) c.2049T>G (p.Val683=) | |
| 6 | g.129315574T= | CA1663079892 | LAMA2 | c.3654T= (p.Val1218=) c.3918T= (p.Val1306=) c.3924T= (p.Val1308=) c.2049T= (p.Val683=) | |
| 6 | g.129315574_129315575del | CA2680313965 | LAMA2 | c.3654_3655del (p.Ala1219ProfsTer23) c.3918_3919del (p.Ala1307ProfsTer23) c.3924_3925del (p.Ala1309ProfsTer23) c.2049_2050del (p.Ala684ProfsTer23) | gnomAD v4 |
| 6 | g.129315575G>A | CA365612910 | LAMA2 | c.3655G>A (p.Ala1219Thr) c.3919G>A (p.Ala1307Thr) c.3925G>A (p.Ala1309Thr) c.2050G>A (p.Ala684Thr) | |
| 6 | g.129315575G>C | CA365612912 | LAMA2 | c.3655G>C (p.Ala1219Pro) c.3919G>C (p.Ala1307Pro) c.3925G>C (p.Ala1309Pro) c.2050G>C (p.Ala684Pro) | |
| 6 | g.129315575G>T | CA365612913 | LAMA2 | c.3655G>T (p.Ala1219Ser) c.3919G>T (p.Ala1307Ser) c.3925G>T (p.Ala1309Ser) c.2050G>T (p.Ala684Ser) | |
| 6 | g.129315575_129315581del | CA2578737112 | LAMA2 | c.3655_3661del (p.Ala1219TrpfsTer3) c.3919_3925del (p.Ala1307TrpfsTer3) c.3925_3931del (p.Ala1309TrpfsTer3) c.2050_2056del (p.Ala684TrpfsTer3) | |
| 6 | g.129315576C>A | CA365612915 | LAMA2 | c.3656C>A (p.Ala1219Asp) c.3920C>A (p.Ala1307Asp) c.3926C>A (p.Ala1309Asp) c.2051C>A (p.Ala684Asp) | |
| 6 | g.129315576C>G | CA365612916 | LAMA2 | c.3656C>G (p.Ala1219Gly) c.3920C>G (p.Ala1307Gly) c.3926C>G (p.Ala1309Gly) c.2051C>G (p.Ala684Gly) | |
| 6 | g.129315576C>T | CA365612918 | LAMA2 | c.3656C>T (p.Ala1219Val) c.3920C>T (p.Ala1307Val) c.3926C>T (p.Ala1309Val) c.2051C>T (p.Ala684Val) | COSMIC |
| 6 | g.129315577C>A | CA451936749 | LAMA2 | c.3657C>A (p.Ala1219=) c.3921C>A (p.Ala1307=) c.3927C>A (p.Ala1309=) c.2052C>A (p.Ala684=) | |
| 6 | g.129315577C>G | CA451936750 | LAMA2 | c.3657C>G (p.Ala1219=) c.3921C>G (p.Ala1307=) c.3927C>G (p.Ala1309=) c.2052C>G (p.Ala684=) | |
| 6 | g.129315577C>T | CA451936751 | LAMA2 | c.3657C>T (p.Ala1219=) c.3921C>T (p.Ala1307=) c.3927C>T (p.Ala1309=) c.2052C>T (p.Ala684=) | ClinVar |
| 6 | g.129315578C>A | CA365612919 | LAMA2 | c.3658C>A (p.His1220Asn) c.3922C>A (p.His1308Asn) c.3928C>A (p.His1310Asn) c.2053C>A (p.His685Asn) | |
| 6 | g.129315578C>G | CA365612921 | LAMA2 | c.3658C>G (p.His1220Asp) c.3922C>G (p.His1308Asp) c.3928C>G (p.His1310Asp) c.2053C>G (p.His685Asp) | |
| 6 | g.129315578C>T | CA365612922 | LAMA2 | c.3658C>T (p.His1220Tyr) c.3922C>T (p.His1308Tyr) c.3928C>T (p.His1310Tyr) c.2053C>T (p.His685Tyr) | |
| 6 | g.129315579A>C | CA365612924 | LAMA2 | c.3659A>C (p.His1220Pro) c.3923A>C (p.His1308Pro) c.3929A>C (p.His1310Pro) c.2054A>C (p.His685Pro) | |
| 6 | g.129315579A>G | CA365612926 | LAMA2 | c.3659A>G (p.His1220Arg) c.3923A>G (p.His1308Arg) c.3929A>G (p.His1310Arg) c.2054A>G (p.His685Arg) | |
| 6 | g.129315579A>T | CA365612927 | LAMA2 | c.3659A>T (p.His1220Leu) c.3923A>T (p.His1308Leu) c.3929A>T (p.His1310Leu) c.2054A>T (p.His685Leu) | |
| 6 | g.129315580C>A | CA365612930 | LAMA2 | c.3660C>A (p.His1220Gln) c.3924C>A (p.His1308Gln) c.3930C>A (p.His1310Gln) c.2055C>A (p.His685Gln) | |
| 6 | g.129315580C= | CA1663079897 | LAMA2 | c.3660C= (p.His1220=) c.3924C= (p.His1308=) c.3930C= (p.His1310=) c.2055C= (p.His685=) | |
| 6 | g.129315580C>G | CA365612929 | LAMA2 | c.3660C>G (p.His1220Gln) c.3924C>G (p.His1308Gln) c.3930C>G (p.His1310Gln) c.2055C>G (p.His685Gln) | |
| 6 | g.129315580C>T | CA146914040 | LAMA2 | c.3660C>T (p.His1220=) c.3924C>T (p.His1308=) c.3930C>T (p.His1310=) c.2055C>T (p.His685=) | dbSNP |
| 6 | g.129315581A= | CA1663079906 | LAMA2 | c.3661A= (p.Met1221=) c.3925A= (p.Met1309=) c.3931A= (p.Met1311=) c.2056A= (p.Met686=) | |
| 6 | g.129315581A>C | CA365612932 | LAMA2 | c.3661A>C (p.Met1221Leu) c.3925A>C (p.Met1309Leu) c.3931A>C (p.Met1311Leu) c.2056A>C (p.Met686Leu) | |
| 6 | g.129315581A>G | CA3993323 | LAMA2 | c.3661A>G (p.Met1221Val) c.3925A>G (p.Met1309Val) c.3931A>G (p.Met1311Val) c.2056A>G (p.Met686Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.129315581A>T | CA365612934 | LAMA2 | c.3661A>T (p.Met1221Leu) c.3925A>T (p.Met1309Leu) c.3931A>T (p.Met1311Leu) c.2056A>T (p.Met686Leu) | |
| 6 | g.129315582T>A | CA365612935 | LAMA2 | c.3662T>A (p.Met1221Lys) c.3926T>A (p.Met1309Lys) c.3932T>A (p.Met1311Lys) c.2057T>A (p.Met686Lys) | |
| 6 | g.129315582T>C | CA365612936 | LAMA2 | c.3662T>C (p.Met1221Thr) c.3926T>C (p.Met1309Thr) c.3932T>C (p.Met1311Thr) c.2057T>C (p.Met686Thr) | |
| 6 | g.129315582T>G | CA3993324 | LAMA2 | c.3662T>G (p.Met1221Arg) c.3926T>G (p.Met1309Arg) c.3932T>G (p.Met1311Arg) c.2057T>G (p.Met686Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315582T= | CA1663079918 | LAMA2 | c.3662T= (p.Met1221=) c.3926T= (p.Met1309=) c.3932T= (p.Met1311=) c.2057T= (p.Met686=) | |
| 6 | g.129315583G>A | CA365612938 | LAMA2 | c.3663G>A (p.Met1221Ile) c.3927G>A (p.Met1309Ile) c.3933G>A (p.Met1311Ile) c.2058G>A (p.Met686Ile) | |
| 6 | g.129315583G>C | CA365612939 | LAMA2 | c.3663G>C (p.Met1221Ile) c.3927G>C (p.Met1309Ile) c.3933G>C (p.Met1311Ile) c.2058G>C (p.Met686Ile) | |
| 6 | g.129315583G>T | CA365612941 | LAMA2 | c.3663G>T (p.Met1221Ile) c.3927G>T (p.Met1309Ile) c.3933G>T (p.Met1311Ile) c.2058G>T (p.Met686Ile) | |
| 6 | g.129315584G>A | CA365612942 | LAMA2 | c.3664G>A (p.Asp1222Asn) c.3928G>A (p.Asp1310Asn) c.3934G>A (p.Asp1312Asn) c.2059G>A (p.Asp687Asn) | COSMIC |
| 6 | g.129315584G>C | CA365612943 | LAMA2 | c.3664G>C (p.Asp1222His) c.3928G>C (p.Asp1310His) c.3934G>C (p.Asp1312His) c.2059G>C (p.Asp687His) | |
| 6 | g.129315584G>T | CA365612945 | LAMA2 | c.3664G>T (p.Asp1222Tyr) c.3928G>T (p.Asp1310Tyr) c.3934G>T (p.Asp1312Tyr) c.2059G>T (p.Asp687Tyr) | |
| 6 | g.129315585A= | CA1663079935 | LAMA2 | c.3665A= (p.Asp1222=) c.3929A= (p.Asp1310=) c.3935A= (p.Asp1312=) c.2060A= (p.Asp687=) | |
| 6 | g.129315585A>C | CA365612949 | LAMA2 | c.3665A>C (p.Asp1222Ala) c.3929A>C (p.Asp1310Ala) c.3935A>C (p.Asp1312Ala) c.2060A>C (p.Asp687Ala) | |
| 6 | g.129315585A>G | CA3993325 | LAMA2 | c.3665A>G (p.Asp1222Gly) c.3929A>G (p.Asp1310Gly) c.3935A>G (p.Asp1312Gly) c.2060A>G (p.Asp687Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315585A>T | CA365612947 | LAMA2 | c.3665A>T (p.Asp1222Val) c.3929A>T (p.Asp1310Val) c.3935A>T (p.Asp1312Val) c.2060A>T (p.Asp687Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129315585_129315586delinsAC | CA1663079930 | LAMA2 | c.3665_3666delinsAC (p.Asp1222=) c.3929_3930delinsAC (p.Asp1310=) c.3935_3936delinsAC (p.Asp1312=) c.2060_2061delinsAC (p.Asp687=) | |
| 6 | g.129315586C>A | CA3993326 | LAMA2 | c.3666C>A (p.Asp1222Glu) c.3930C>A (p.Asp1310Glu) c.3936C>A (p.Asp1312Glu) c.2061C>A (p.Asp687Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315586C= | CA1663079944 | LAMA2 | c.3666C= (p.Asp1222=) c.3930C= (p.Asp1310=) c.3936C= (p.Asp1312=) c.2061C= (p.Asp687=) | |
| 6 | g.129315586C>G | CA365612951 | LAMA2 | c.3666C>G (p.Asp1222Glu) c.3930C>G (p.Asp1310Glu) c.3936C>G (p.Asp1312Glu) c.2061C>G (p.Asp687Glu) | |
| 6 | g.129315586C>T | CA451936752 | LAMA2 | c.3666C>T (p.Asp1222=) c.3930C>T (p.Asp1310=) c.3936C>T (p.Asp1312=) c.2061C>T (p.Asp687=) | |
| 6 | g.129315587del | CA1139659803 | LAMA2 | c.3667del (p.Leu1223Ter) c.3931del (p.Leu1311Ter) c.3937del (p.Leu1313Ter) c.2062del (p.Leu688Ter) | ClinVar dbSNP |
| 6 | g.129315586_129315587insT | CA2499218070 | LAMA2 | c.3666_3667insT (p.Leu1223SerfsTer20) c.3930_3931insT (p.Leu1311SerfsTer20) c.3936_3937insT (p.Leu1313SerfsTer20) c.2061_2062insT (p.Leu688SerfsTer20) | dbSNP |
| 6 | g.129315587C>A | CA365612953 | LAMA2 | c.3667C>A (p.Leu1223Met) c.3931C>A (p.Leu1311Met) c.3937C>A (p.Leu1313Met) c.2062C>A (p.Leu688Met) | |
| 6 | g.129315587C>G | CA365612954 | LAMA2 | c.3667C>G (p.Leu1223Val) c.3931C>G (p.Leu1311Val) c.3937C>G (p.Leu1313Val) c.2062C>G (p.Leu688Val) | |
| 6 | g.129315587C>T | CA451936753 | LAMA2 | c.3667C>T (p.Leu1223=) c.3931C>T (p.Leu1311=) c.3937C>T (p.Leu1313=) c.2062C>T (p.Leu688=) | |
| 6 | g.129315588T>A | CA365612956 | LAMA2 | c.3668T>A (p.Leu1223Gln) c.3932T>A (p.Leu1311Gln) c.3938T>A (p.Leu1313Gln) c.2063T>A (p.Leu688Gln) | |
| 6 | g.129315588T>C | CA3993327 | LAMA2 | c.3668T>C (p.Leu1223Pro) c.3932T>C (p.Leu1311Pro) c.3938T>C (p.Leu1313Pro) c.2063T>C (p.Leu688Pro) | dbSNP ExAC gnomAD v4 |
| 6 | g.129315588T>G | CA365612957 | LAMA2 | c.3668T>G (p.Leu1223Arg) c.3932T>G (p.Leu1311Arg) c.3938T>G (p.Leu1313Arg) c.2063T>G (p.Leu688Arg) | |
| 6 | g.129315588T= | CA1663079953 | LAMA2 | c.3668T= (p.Leu1223=) c.3932T= (p.Leu1311=) c.3938T= (p.Leu1313=) c.2063T= (p.Leu688=) | |
| 6 | g.129315589G>A | CA451936754 | LAMA2 | c.3669G>A (p.Leu1223=) c.3933G>A (p.Leu1311=) c.3939G>A (p.Leu1313=) c.2064G>A (p.Leu688=) | |
| 6 | g.129315589G>C | CA451936755 | LAMA2 | c.3669G>C (p.Leu1223=) c.3933G>C (p.Leu1311=) c.3939G>C (p.Leu1313=) c.2064G>C (p.Leu688=) | |
| 6 | g.129315589G>T | CA451936756 | LAMA2 | c.3669G>T (p.Leu1223=) c.3933G>T (p.Leu1311=) c.3939G>T (p.Leu1313=) c.2064G>T (p.Leu688=) | |
| 6 | g.129315590A= | CA1663079959 | LAMA2 | c.3670A= (p.Met1224=) c.3934A= (p.Met1312=) c.3940A= (p.Met1314=) c.2065A= (p.Met689=) | |
| 6 | g.129315590A>C | CA365612959 | LAMA2 | c.3670A>C (p.Met1224Leu) c.3934A>C (p.Met1312Leu) c.3940A>C (p.Met1314Leu) c.2065A>C (p.Met689Leu) | |
| 6 | g.129315590A>G | CA365612961 | LAMA2 | c.3670A>G (p.Met1224Val) c.3934A>G (p.Met1312Val) c.3940A>G (p.Met1314Val) c.2065A>G (p.Met689Val) | |
| 6 | g.129315590A>T | CA365612962 | LAMA2 | c.3670A>T (p.Met1224Leu) c.3934A>T (p.Met1312Leu) c.3940A>T (p.Met1314Leu) c.2065A>T (p.Met689Leu) | dbSNP |
| 6 | g.129315591T>A | CA365612964 | LAMA2 | c.3671T>A (p.Met1224Lys) c.3935T>A (p.Met1312Lys) c.3941T>A (p.Met1314Lys) c.2066T>A (p.Met689Lys) | |
| 6 | g.129315591T>C | CA365612965 | LAMA2 | c.3671T>C (p.Met1224Thr) c.3935T>C (p.Met1312Thr) c.3941T>C (p.Met1314Thr) c.2066T>C (p.Met689Thr) | gnomAD v4 |
| 6 | g.129315591T>G | CA365612967 | LAMA2 | c.3671T>G (p.Met1224Arg) c.3935T>G (p.Met1312Arg) c.3941T>G (p.Met1314Arg) c.2066T>G (p.Met689Arg) | gnomAD v4 |
| 6 | g.129315592G>A | CA365612972 | LAMA2 | c.3672G>A (p.Met1224Ile) c.3936G>A (p.Met1312Ile) c.3942G>A (p.Met1314Ile) c.2067G>A (p.Met689Ile) | COSMIC |
| 6 | g.129315592G>C | CA365612970 | LAMA2 | c.3672G>C (p.Met1224Ile) c.3936G>C (p.Met1312Ile) c.3942G>C (p.Met1314Ile) c.2067G>C (p.Met689Ile) | |
| 6 | g.129315592G>T | CA365612968 | LAMA2 | c.3672G>T (p.Met1224Ile) c.3936G>T (p.Met1312Ile) c.3942G>T (p.Met1314Ile) c.2067G>T (p.Met689Ile) | COSMIC |
| 6 | g.129315593A>C | CA451936757 | LAMA2 | c.3673A>C (p.Arg1225=) c.3937A>C (p.Arg1313=) c.3943A>C (p.Arg1315=) c.2068A>C (p.Arg690=) | |
| 6 | g.129315593A>G | CA365612973 | LAMA2 | c.3673A>G (p.Arg1225Gly) c.3937A>G (p.Arg1313Gly) c.3943A>G (p.Arg1315Gly) c.2068A>G (p.Arg690Gly) | |
| 6 | g.129315593A>T | CA365612974 | LAMA2 | c.3673A>T (p.Arg1225Ter) c.3937A>T (p.Arg1313Ter) c.3943A>T (p.Arg1315Ter) c.2068A>T (p.Arg690Ter) | |
| 6 | g.129315594G>A | CA365612975 | LAMA2 | c.3674G>A (p.Arg1225Lys) c.3938G>A (p.Arg1313Lys) c.3944G>A (p.Arg1315Lys) c.2069G>A (p.Arg690Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129315594G>C | CA3993328 | LAMA2 | c.3674G>C (p.Arg1225Thr) c.3938G>C (p.Arg1313Thr) c.3944G>C (p.Arg1315Thr) c.2069G>C (p.Arg690Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315594G= | CA1663079964 | LAMA2 | c.3674G= (p.Arg1225=) c.3938G= (p.Arg1313=) c.3944G= (p.Arg1315=) c.2069G= (p.Arg690=) | |
| 6 | g.129315594G>T | CA365612977 | LAMA2 | c.3674G>T (p.Arg1225Ile) c.3938G>T (p.Arg1313Ile) c.3944G>T (p.Arg1315Ile) c.2069G>T (p.Arg690Ile) | |
| 6 | g.129315595A>C | CA365612979 | LAMA2 | c.3675A>C (p.Arg1225Ser) c.3939A>C (p.Arg1313Ser) c.3945A>C (p.Arg1315Ser) c.2070A>C (p.Arg690Ser) | |
| 6 | g.129315595A>G | CA451936758 | LAMA2 | c.3675A>G (p.Arg1225=) c.3939A>G (p.Arg1313=) c.3945A>G (p.Arg1315=) c.2070A>G (p.Arg690=) | gnomAD v4 |
| 6 | g.129315595A>T | CA365612980 | LAMA2 | c.3675A>T (p.Arg1225Ser) c.3939A>T (p.Arg1313Ser) c.3945A>T (p.Arg1315Ser) c.2070A>T (p.Arg690Ser) | |
| 6 | g.129315596G>A | CA365612982 | LAMA2 | c.3676G>A (p.Glu1226Lys) c.3940G>A (p.Glu1314Lys) c.3946G>A (p.Glu1316Lys) c.2071G>A (p.Glu691Lys) | dbSNP gnomAD v4 COSMIC |
| 6 | g.129315596G>C | CA365612983 | LAMA2 | c.3676G>C (p.Glu1226Gln) c.3940G>C (p.Glu1314Gln) c.3946G>C (p.Glu1316Gln) c.2071G>C (p.Glu691Gln) | |
| 6 | g.129315596G= | CA1663079966 | LAMA2 | c.3676G= (p.Glu1226=) c.3940G= (p.Glu1314=) c.3946G= (p.Glu1316=) c.2071G= (p.Glu691=) | |
| 6 | g.129315596G>T | CA365612985 | LAMA2 | c.3676G>T (p.Glu1226Ter) c.3940G>T (p.Glu1314Ter) c.3946G>T (p.Glu1316Ter) c.2071G>T (p.Glu691Ter) | |
| 6 | g.129315597A= | CA1663079973 | LAMA2 | c.3677A= (p.Glu1226=) c.3941A= (p.Glu1314=) c.3947A= (p.Glu1316=) c.2072A= (p.Glu691=) | |
| 6 | g.129315597A>C | CA365612986 | LAMA2 | c.3677A>C (p.Glu1226Ala) c.3941A>C (p.Glu1314Ala) c.3947A>C (p.Glu1316Ala) c.2072A>C (p.Glu691Ala) | |
| 6 | g.129315597A>G | CA365612987 | LAMA2 | c.3677A>G (p.Glu1226Gly) c.3941A>G (p.Glu1314Gly) c.3947A>G (p.Glu1316Gly) c.2072A>G (p.Glu691Gly) | dbSNP |
| 6 | g.129315597A>T | CA365612989 | LAMA2 | c.3677A>T (p.Glu1226Val) c.3941A>T (p.Glu1314Val) c.3947A>T (p.Glu1316Val) c.2072A>T (p.Glu691Val) | |
| 6 | g.129315598A= | CA1663079975 | LAMA2 | c.3678A= (p.Glu1226=) c.3942A= (p.Glu1314=) c.3948A= (p.Glu1316=) c.2073A= (p.Glu691=) | |
| 6 | g.129315598A>C | CA365612993 | LAMA2 | c.3678A>C (p.Glu1226Asp) c.3942A>C (p.Glu1314Asp) c.3948A>C (p.Glu1316Asp) c.2073A>C (p.Glu691Asp) | |
| 6 | g.129315598A>G | CA3993329 | LAMA2 | c.3678A>G (p.Glu1226=) c.3942A>G (p.Glu1314=) c.3948A>G (p.Glu1316=) c.2073A>G (p.Glu691=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129315598A>T | CA365612991 | LAMA2 | c.3678A>T (p.Glu1226Asp) c.3942A>T (p.Glu1314Asp) c.3948A>T (p.Glu1316Asp) c.2073A>T (p.Glu691Asp) |