UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.7015736C>A | CA401850424 | LAMA1 | c.3112G>T (p.Glu1038Ter) n.4127G>T c.1540G>T (p.Glu514Ter) | |
| 18 | g.7015736C= | CA2282694601 | LAMA1 | c.3112G= (p.Glu1038=) n.4127G= c.1540G= (p.Glu514=) | |
| 18 | g.7015736C>G | CA401850425 | LAMA1 | c.3112G>C (p.Glu1038Gln) n.4127G>C c.1540G>C (p.Glu514Gln) | |
| 18 | g.7015736C>T | CA8882399 | LAMA1 | c.3112G>A (p.Glu1038Lys) n.4127G>A c.1540G>A (p.Glu514Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.7015737C>A | CA502490001 | LAMA1 | c.3111G>T (p.Ala1037=) n.4126G>T c.1539G>T (p.Ala513=) | |
| 18 | g.7015737C= | CA2282694602 | LAMA1 | c.3111G= (p.Ala1037=) n.4126G= c.1539G= (p.Ala513=) | |
| 18 | g.7015737C>G | CA502490006 | LAMA1 | c.3111G>C (p.Ala1037=) n.4126G>C c.1539G>C (p.Ala513=) | |
| 18 | g.7015737C>T | CA8882400 | LAMA1 | c.3111G>A (p.Ala1037=) n.4126G>A c.1539G>A (p.Ala513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015738G>A | CA8882401 | LAMA1 | c.3110C>T (p.Ala1037Val) n.4125C>T c.1538C>T (p.Ala513Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015738G>C | CA401850426 | LAMA1 | c.3110C>G (p.Ala1037Gly) n.4125C>G c.1538C>G (p.Ala513Gly) | |
| 18 | g.7015738G= | CA2282694603 | LAMA1 | c.3110C= (p.Ala1037=) n.4125C= c.1538C= (p.Ala513=) | |
| 18 | g.7015738G>T | CA401850427 | LAMA1 | c.3110C>A (p.Ala1037Glu) n.4125C>A c.1538C>A (p.Ala513Glu) | |
| 18 | g.7015739C>A | CA401850428 | LAMA1 | c.3109G>T (p.Ala1037Ser) n.4124G>T c.1537G>T (p.Ala513Ser) | |
| 18 | g.7015739C= | CA2282694604 | LAMA1 | c.3109G= (p.Ala1037=) n.4124G= c.1537G= (p.Ala513=) | |
| 18 | g.7015739C>G | CA401850429 | LAMA1 | c.3109G>C (p.Ala1037Pro) n.4124G>C c.1537G>C (p.Ala513Pro) | |
| 18 | g.7015739C>T | CA401850430 | LAMA1 | c.3109G>A (p.Ala1037Thr) n.4124G>A c.1537G>A (p.Ala513Thr) | dbSNP |
| 18 | g.7015740A= | CA2282694605 | LAMA1 | c.3108T= (p.Asp1036=) n.4123T= c.1536T= (p.Asp512=) | |
| 18 | g.7015740A>C | CA401850431 | LAMA1 | c.3108T>G (p.Asp1036Glu) n.4123T>G c.1536T>G (p.Asp512Glu) | |
| 18 | g.7015740A>G | CA502490020 | LAMA1 | c.3108T>C (p.Asp1036=) n.4123T>C c.1536T>C (p.Asp512=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015740A>T | CA401850432 | LAMA1 | c.3108T>A (p.Asp1036Glu) n.4123T>A c.1536T>A (p.Asp512Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015741T>A | CA8882402 | LAMA1 | c.3107A>T (p.Asp1036Val) n.4122A>T c.1535A>T (p.Asp512Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015741T>C | CA401850433 | LAMA1 | c.3107A>G (p.Asp1036Gly) n.4122A>G c.1535A>G (p.Asp512Gly) | dbSNP |
| 18 | g.7015741T>G | CA401850434 | LAMA1 | c.3107A>C (p.Asp1036Ala) n.4122A>C c.1535A>C (p.Asp512Ala) | |
| 18 | g.7015741T= | CA2282694606 | LAMA1 | c.3107A= (p.Asp1036=) n.4122A= c.1535A= (p.Asp512=) | |
| 18 | g.7015742C>A | CA401850436 | LAMA1 | c.3106G>T (p.Asp1036Tyr) n.4121G>T c.1534G>T (p.Asp512Tyr) | |
| 18 | g.7015742C= | CA2282694607 | LAMA1 | c.3106G= (p.Asp1036=) n.4121G= c.1534G= (p.Asp512=) | |
| 18 | g.7015742C>G | CA401850435 | LAMA1 | c.3106G>C (p.Asp1036His) n.4121G>C c.1534G>C (p.Asp512His) | |
| 18 | g.7015742C>T | CA8882403 | LAMA1 | c.3106G>A (p.Asp1036Asn) n.4121G>A c.1534G>A (p.Asp512Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015743G>A | CA8882404 | LAMA1 | c.3105C>T (p.Tyr1035=) n.4120C>T c.1533C>T (p.Tyr511=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015743G>C | CA401850437 | LAMA1 | c.3105C>G (p.Tyr1035Ter) n.4120C>G c.1533C>G (p.Tyr511Ter) | |
| 18 | g.7015743G= | CA2282694608 | LAMA1 | c.3105C= (p.Tyr1035=) n.4120C= c.1533C= (p.Tyr511=) | |
| 18 | g.7015743G>T | CA401850438 | LAMA1 | c.3105C>A (p.Tyr1035Ter) n.4120C>A c.1533C>A (p.Tyr511Ter) | |
| 18 | g.7015744T>A | CA401850439 | LAMA1 | c.3104A>T (p.Tyr1035Phe) n.4119A>T c.1532A>T (p.Tyr511Phe) | |
| 18 | g.7015744T>C | CA401850440 | LAMA1 | c.3104A>G (p.Tyr1035Cys) n.4119A>G c.1532A>G (p.Tyr511Cys) | gnomAD v4 |
| 18 | g.7015744T>G | CA401850441 | LAMA1 | c.3104A>C (p.Tyr1035Ser) n.4119A>C c.1532A>C (p.Tyr511Ser) | |
| 18 | g.7015745A= | CA2282694609 | LAMA1 | c.3103T= (p.Tyr1035=) n.4118T= c.1531T= (p.Tyr511=) | |
| 18 | g.7015745A>C | CA401850442 | LAMA1 | c.3103T>G (p.Tyr1035Asp) n.4118T>G c.1531T>G (p.Tyr511Asp) | |
| 18 | g.7015745A>G | CA401850443 | LAMA1 | c.3103T>C (p.Tyr1035His) n.4118T>C c.1531T>C (p.Tyr511His) | |
| 18 | g.7015745A>T | CA401850444 | LAMA1 | c.3103T>A (p.Tyr1035Asn) n.4118T>A c.1531T>A (p.Tyr511Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015746G>A | CA502490038 | LAMA1 | c.3102C>T (p.Gly1034=) n.4117C>T c.1530C>T (p.Gly510=) | |
| 18 | g.7015746G>C | CA502490039 | LAMA1 | c.3102C>G (p.Gly1034=) n.4117C>G c.1530C>G (p.Gly510=) | |
| 18 | g.7015746G>T | CA502490040 | LAMA1 | c.3102C>A (p.Gly1034=) n.4117C>A c.1530C>A (p.Gly510=) | |
| 18 | g.7015747C>A | CA8882405 | LAMA1 | c.3101G>T (p.Gly1034Val) n.4116G>T c.1529G>T (p.Gly510Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015747C= | CA2282694610 | LAMA1 | c.3101G= (p.Gly1034=) n.4116G= c.1529G= (p.Gly510=) | |
| 18 | g.7015747C>G | CA401850445 | LAMA1 | c.3101G>C (p.Gly1034Ala) n.4116G>C c.1529G>C (p.Gly510Ala) | |
| 18 | g.7015747C>T | CA8882406 | LAMA1 | c.3101G>A (p.Gly1034Asp) n.4116G>A c.1529G>A (p.Gly510Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015748C>A | CA401850446 | LAMA1 | c.3100G>T (p.Gly1034Cys) n.4115G>T c.1528G>T (p.Gly510Cys) | |
| 18 | g.7015748C>G | CA401850448 | LAMA1 | c.3100G>C (p.Gly1034Arg) n.4115G>C c.1528G>C (p.Gly510Arg) | |
| 18 | g.7015748C>T | CA401850447 | LAMA1 | c.3100G>A (p.Gly1034Ser) n.4115G>A c.1528G>A (p.Gly510Ser) | gnomAD v4 |
| 18 | g.7015749C>A | CA401850449 | LAMA1 | c.3099G>T (p.Trp1033Cys) n.4114G>T c.1527G>T (p.Trp509Cys) | |
| 18 | g.7015749C= | CA2282694611 | LAMA1 | c.3099G= (p.Trp1033=) n.4114G= c.1527G= (p.Trp509=) | |
| 18 | g.7015749C>G | CA401850450 | LAMA1 | c.3099G>C (p.Trp1033Cys) n.4114G>C c.1527G>C (p.Trp509Cys) | |
| 18 | g.7015749C>T | CA8882407 | LAMA1 | c.3099G>A (p.Trp1033Ter) n.4114G>A c.1527G>A (p.Trp509Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015750C>A | CA401850451 | LAMA1 | c.3098G>T (p.Trp1033Leu) n.4113G>T c.1526G>T (p.Trp509Leu) | |
| 18 | g.7015750C= | CA2282694612 | LAMA1 | c.3098G= (p.Trp1033=) n.4113G= c.1526G= (p.Trp509=) | |
| 18 | g.7015750C>G | CA401850453 | LAMA1 | c.3098G>C (p.Trp1033Ser) n.4113G>C c.1526G>C (p.Trp509Ser) | dbSNP gnomAD v2 |
| 18 | g.7015750C>T | CA401850452 | LAMA1 | c.3098G>A (p.Trp1033Ter) n.4113G>A c.1526G>A (p.Trp509Ter) | |
| 18 | g.7015751A>C | CA401850454 | LAMA1 | c.3097T>G (p.Trp1033Gly) n.4112T>G c.1525T>G (p.Trp509Gly) | |
| 18 | g.7015751A>G | CA401850455 | LAMA1 | c.3097T>C (p.Trp1033Arg) n.4112T>C c.1525T>C (p.Trp509Arg) | |
| 18 | g.7015751A>T | CA401850456 | LAMA1 | c.3097T>A (p.Trp1033Arg) n.4112T>A c.1525T>A (p.Trp509Arg) | |
| 18 | g.7015752G>A | CA502490066 | LAMA1 | c.3096C>T (p.His1032=) n.4111C>T c.1524C>T (p.His508=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015752G>C | CA401850457 | LAMA1 | c.3096C>G (p.His1032Gln) n.4111C>G c.1524C>G (p.His508Gln) | |
| 18 | g.7015752G= | CA2282694613 | LAMA1 | c.3096C= (p.His1032=) n.4111C= c.1524C= (p.His508=) | |
| 18 | g.7015752G>T | CA8882408 | LAMA1 | c.3096C>A (p.His1032Gln) n.4111C>A c.1524C>A (p.His508Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015753T>A | CA401850460 | LAMA1 | c.3095A>T (p.His1032Leu) n.4110A>T c.1523A>T (p.His508Leu) | |
| 18 | g.7015753T>C | CA401850459 | LAMA1 | c.3095A>G (p.His1032Arg) n.4110A>G c.1523A>G (p.His508Arg) | |
| 18 | g.7015753T>G | CA401850458 | LAMA1 | c.3095A>C (p.His1032Pro) n.4110A>C c.1523A>C (p.His508Pro) | |
| 18 | g.7015754G>A | CA8882409 | LAMA1 | c.3094C>T (p.His1032Tyr) n.4109C>T c.1522C>T (p.His508Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015754G>C | CA401850461 | LAMA1 | c.3094C>G (p.His1032Asp) n.4109C>G c.1522C>G (p.His508Asp) | |
| 18 | g.7015754G= | CA2282694614 | LAMA1 | c.3094C= (p.His1032=) n.4109C= c.1522C= (p.His508=) | |
| 18 | g.7015754G>T | CA401850462 | LAMA1 | c.3094C>A (p.His1032Asn) n.4109C>A c.1522C>A (p.His508Asn) | |
| 18 | g.7015755C>A | CA502490079 | LAMA1 | c.3093G>T (p.Gly1031=) n.4108G>T c.1521G>T (p.Gly507=) | |
| 18 | g.7015755C>G | CA502490080 | LAMA1 | c.3093G>C (p.Gly1031=) n.4108G>C c.1521G>C (p.Gly507=) | |
| 18 | g.7015755C>T | CA502490084 | LAMA1 | c.3093G>A (p.Gly1031=) n.4108G>A c.1521G>A (p.Gly507=) | |
| 18 | g.7015756C>A | CA401850463 | LAMA1 | c.3092G>T (p.Gly1031Val) n.4107G>T c.1520G>T (p.Gly507Val) | |
| 18 | g.7015756C>G | CA401850464 | LAMA1 | c.3092G>C (p.Gly1031Ala) n.4107G>C c.1520G>C (p.Gly507Ala) | |
| 18 | g.7015756C>T | CA401850465 | LAMA1 | c.3092G>A (p.Gly1031Glu) n.4107G>A c.1520G>A (p.Gly507Glu) | |
| 18 | g.7015757C>A | CA401850466 | LAMA1 | c.3091G>T (p.Gly1031Trp) n.4106G>T c.1519G>T (p.Gly507Trp) | |
| 18 | g.7015757C>G | CA401850468 | LAMA1 | c.3091G>C (p.Gly1031Arg) n.4106G>C c.1519G>C (p.Gly507Arg) | |
| 18 | g.7015757C>T | CA401850467 | LAMA1 | c.3091G>A (p.Gly1031Arg) n.4106G>A c.1519G>A (p.Gly507Arg) | COSMIC |
| 18 | g.7015758A>C | CA401850469 | LAMA1 | c.3090T>G (p.Asp1030Glu) n.4105T>G c.1518T>G (p.Asp506Glu) | |
| 18 | g.7015758A>G | CA502490093 | LAMA1 | c.3090T>C (p.Asp1030=) n.4105T>C c.1518T>C (p.Asp506=) | |
| 18 | g.7015758A>T | CA401850470 | LAMA1 | c.3090T>A (p.Asp1030Glu) n.4105T>A c.1518T>A (p.Asp506Glu) | |
| 18 | g.7015759T>A | CA401850471 | LAMA1 | c.3089A>T (p.Asp1030Val) n.4104A>T c.1517A>T (p.Asp506Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015759T>C | CA401850472 | LAMA1 | c.3089A>G (p.Asp1030Gly) n.4104A>G c.1517A>G (p.Asp506Gly) | |
| 18 | g.7015759T>G | CA401850473 | LAMA1 | c.3089A>C (p.Asp1030Ala) n.4104A>C c.1517A>C (p.Asp506Ala) | |
| 18 | g.7015759T= | CA2282694615 | LAMA1 | c.3089A= (p.Asp1030=) n.4104A= c.1517A= (p.Asp506=) | |
| 18 | g.7015760C>A | CA401850474 | LAMA1 | c.3088G>T (p.Asp1030Tyr) n.4103G>T c.1516G>T (p.Asp506Tyr) | COSMIC |
| 18 | g.7015760C= | CA2282694616 | LAMA1 | c.3088G= (p.Asp1030=) n.4103G= c.1516G= (p.Asp506=) | |
| 18 | g.7015760C>G | CA401850475 | LAMA1 | c.3088G>C (p.Asp1030His) n.4103G>C c.1516G>C (p.Asp506His) | |
| 18 | g.7015760C>T | CA401850476 | LAMA1 | c.3088G>A (p.Asp1030Asn) n.4103G>A c.1516G>A (p.Asp506Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015761C>A | CA401850477 | LAMA1 | c.3087G>T (p.Glu1029Asp) n.4102G>T c.1515G>T (p.Glu505Asp) | COSMIC |
| 18 | g.7015761C= | CA2282694617 | LAMA1 | c.3087G= (p.Glu1029=) n.4102G= c.1515G= (p.Glu505=) | |
| 18 | g.7015761C>G | CA401850478 | LAMA1 | c.3087G>C (p.Glu1029Asp) n.4102G>C c.1515G>C (p.Glu505Asp) | dbSNP gnomAD v2 |
| 18 | g.7015761C>T | CA502490105 | LAMA1 | c.3087G>A (p.Glu1029=) n.4102G>A c.1515G>A (p.Glu505=) | |
| 18 | g.7015762T>A | CA8882410 | LAMA1 | c.3086A>T (p.Glu1029Val) n.4101A>T c.1514A>T (p.Glu505Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015762T>C | CA401850480 | LAMA1 | c.3086A>G (p.Glu1029Gly) n.4101A>G c.1514A>G (p.Glu505Gly) | |
| 18 | g.7015762T>G | CA401850479 | LAMA1 | c.3086A>C (p.Glu1029Ala) n.4101A>C c.1514A>C (p.Glu505Ala) | gnomAD v4 |
| 18 | g.7015762T= | CA2282694618 | LAMA1 | c.3086A= (p.Glu1029=) n.4101A= c.1514A= (p.Glu505=) | |
| 18 | g.7015763C>A | CA401850481 | LAMA1 | c.3085G>T (p.Glu1029Ter) n.4100G>T c.1513G>T (p.Glu505Ter) | |
| 18 | g.7015763C>G | CA401850482 | LAMA1 | c.3085G>C (p.Glu1029Gln) n.4100G>C c.1513G>C (p.Glu505Gln) | |
| 18 | g.7015763C>T | CA401850483 | LAMA1 | c.3085G>A (p.Glu1029Lys) n.4100G>A c.1513G>A (p.Glu505Lys) | |
| 18 | g.7015764A>C | CA401850484 | LAMA1 | c.3084T>G (p.Cys1028Trp) n.4099T>G c.1512T>G (p.Cys504Trp) | |
| 18 | g.7015764A>G | CA502490113 | LAMA1 | c.3084T>C (p.Cys1028=) n.4099T>C c.1512T>C (p.Cys504=) | |
| 18 | g.7015764A>T | CA401850485 | LAMA1 | c.3084T>A (p.Cys1028Ter) n.4099T>A c.1512T>A (p.Cys504Ter) | |
| 18 | g.7015765C>A | CA401850486 | LAMA1 | c.3083G>T (p.Cys1028Phe) n.4098G>T c.1511G>T (p.Cys504Phe) | |
| 18 | g.7015765C>G | CA401850487 | LAMA1 | c.3083G>C (p.Cys1028Ser) n.4098G>C c.1511G>C (p.Cys504Ser) | |
| 18 | g.7015765C>T | CA401850488 | LAMA1 | c.3083G>A (p.Cys1028Tyr) n.4098G>A c.1511G>A (p.Cys504Tyr) | |
| 18 | g.7015766A= | CA2282694619 | LAMA1 | c.3082T= (p.Cys1028=) n.4097T= c.1510T= (p.Cys504=) | |
| 18 | g.7015766A>C | CA401850489 | LAMA1 | c.3082T>G (p.Cys1028Gly) n.4097T>G c.1510T>G (p.Cys504Gly) | |
| 18 | g.7015766A>G | CA401850490 | LAMA1 | c.3082T>C (p.Cys1028Arg) n.4097T>C c.1510T>C (p.Cys504Arg) | |
| 18 | g.7015766A>T | CA8882411 | LAMA1 | c.3082T>A (p.Cys1028Ser) n.4097T>A c.1510T>A (p.Cys504Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015767T>A | CA401850492 | LAMA1 | c.3081A>T (p.Glu1027Asp) n.4096A>T c.1509A>T (p.Glu503Asp) | |
| 18 | g.7015767T>C | CA502490122 | LAMA1 | c.3081A>G (p.Glu1027=) n.4096A>G c.1509A>G (p.Glu503=) | dbSNP |
| 18 | g.7015767T>G | CA401850491 | LAMA1 | c.3081A>C (p.Glu1027Asp) n.4096A>C c.1509A>C (p.Glu503Asp) | |
| 18 | g.7015767T= | CA2282694620 | LAMA1 | c.3081A= (p.Glu1027=) n.4096A= c.1509A= (p.Glu503=) | |
| 18 | g.7015768T>A | CA401850493 | LAMA1 | c.3080A>T (p.Glu1027Val) n.4095A>T c.1508A>T (p.Glu503Val) | |
| 18 | g.7015768T>C | CA401850494 | LAMA1 | c.3080A>G (p.Glu1027Gly) n.4095A>G c.1508A>G (p.Glu503Gly) | |
| 18 | g.7015768T>G | CA401850495 | LAMA1 | c.3080A>C (p.Glu1027Ala) n.4095A>C c.1508A>C (p.Glu503Ala) | |
| 18 | g.7015769C>A | CA401850496 | LAMA1 | c.3079G>T (p.Glu1027Ter) n.4094G>T c.1507G>T (p.Glu503Ter) | |
| 18 | g.7015769C>G | CA401850497 | LAMA1 | c.3079G>C (p.Glu1027Gln) n.4094G>C c.1507G>C (p.Glu503Gln) | |
| 18 | g.7015769C>T | CA401850498 | LAMA1 | c.3079G>A (p.Glu1027Lys) n.4094G>A c.1507G>A (p.Glu503Lys) | |
| 18 | g.7015770T>A | CA401850499 | LAMA1 | c.3078A>T (p.Glu1026Asp) n.4093A>T c.1506A>T (p.Glu502Asp) | |
| 18 | g.7015770T>C | CA502490134 | LAMA1 | c.3078A>G (p.Glu1026=) n.4093A>G c.1506A>G (p.Glu502=) | |
| 18 | g.7015770T>G | CA401850500 | LAMA1 | c.3078A>C (p.Glu1026Asp) n.4093A>C c.1506A>C (p.Glu502Asp) | |
| 18 | g.7015771T>A | CA401850501 | LAMA1 | c.3077A>T (p.Glu1026Val) n.4092A>T c.1505A>T (p.Glu502Val) | |
| 18 | g.7015771T>C | CA401850502 | LAMA1 | c.3077A>G (p.Glu1026Gly) n.4092A>G c.1505A>G (p.Glu502Gly) | gnomAD v4 |
| 18 | g.7015771T>G | CA401850503 | LAMA1 | c.3077A>C (p.Glu1026Ala) n.4092A>C c.1505A>C (p.Glu502Ala) | |
| 18 | g.7015772C>A | CA401850505 | LAMA1 | c.3076G>T (p.Glu1026Ter) n.4091G>T c.1504G>T (p.Glu502Ter) | |
| 18 | g.7015772C>G | CA401850506 | LAMA1 | c.3076G>C (p.Glu1026Gln) n.4091G>C c.1504G>C (p.Glu502Gln) | |
| 18 | g.7015772C>T | CA401850504 | LAMA1 | c.3076G>A (p.Glu1026Lys) n.4091G>A c.1504G>A (p.Glu502Lys) | |
| 18 | g.7015773del | CA2640920262 | LAMA1 | c.3075del (p.Cys1025TrpfsTer?) n.4090del c.1503del (p.Cys501TrpfsTer?) | gnomAD v4 |
| 18 | g.7015773A>C | CA401850508 | LAMA1 | c.3075T>G (p.Cys1025Trp) n.4090T>G c.1503T>G (p.Cys501Trp) | |
| 18 | g.7015773A>G | CA502490139 | LAMA1 | c.3075T>C (p.Cys1025=) n.4090T>C c.1503T>C (p.Cys501=) | |
| 18 | g.7015773A>T | CA401850507 | LAMA1 | c.3075T>A (p.Cys1025Ter) n.4090T>A c.1503T>A (p.Cys501Ter) | |
| 18 | g.7015774C>A | CA401850509 | LAMA1 | c.3074G>T (p.Cys1025Phe) n.4089G>T c.1502G>T (p.Cys501Phe) | |
| 18 | g.7015774C>G | CA401850510 | LAMA1 | c.3074G>C (p.Cys1025Ser) n.4089G>C c.1502G>C (p.Cys501Ser) | |
| 18 | g.7015774C>T | CA401850511 | LAMA1 | c.3074G>A (p.Cys1025Tyr) n.4089G>A c.1502G>A (p.Cys501Tyr) | gnomAD v4 |
| 18 | g.7015775A>C | CA401850512 | LAMA1 | c.3073T>G (p.Cys1025Gly) n.4088T>G c.1501T>G (p.Cys501Gly) | |
| 18 | g.7015775A>G | CA401850513 | LAMA1 | c.3073T>C (p.Cys1025Arg) n.4088T>C c.1501T>C (p.Cys501Arg) | |
| 18 | g.7015775A>T | CA401850514 | LAMA1 | c.3073T>A (p.Cys1025Ser) n.4088T>A c.1501T>A (p.Cys501Ser) | |
| 18 | g.7015775_7015776insGACCCAAACCCCAG | CA2640920271 | LAMA1 | c.3072_3073insCTGGGGTTTGGGTC (p.Cys1025LeufsTer?) n.4087_4088insCTGGGGTTTGGGTC c.1500_1501insCTGGGGTTTGGGTC (p.Cys501LeufsTer?) | gnomAD v4 |
| 18 | g.7015776C>A | CA401850515 | LAMA1 | c.3072G>T (p.Lys1024Asn) n.4087G>T c.1500G>T (p.Lys500Asn) | dbSNP |
| 18 | g.7015776C= | CA2282694621 | LAMA1 | c.3072G= (p.Lys1024=) n.4087G= c.1500G= (p.Lys500=) | |
| 18 | g.7015776C>G | CA401850516 | LAMA1 | c.3072G>C (p.Lys1024Asn) n.4087G>C c.1500G>C (p.Lys500Asn) | |
| 18 | g.7015776C>T | CA502490147 | LAMA1 | c.3072G>A (p.Lys1024=) n.4087G>A c.1500G>A (p.Lys500=) | gnomAD v4 |
| 18 | g.7015777T>A | CA401850517 | LAMA1 | c.3071A>T (p.Lys1024Met) n.4086A>T c.1499A>T (p.Lys500Met) | |
| 18 | g.7015777T>C | CA401850518 | LAMA1 | c.3071A>G (p.Lys1024Arg) n.4086A>G c.1499A>G (p.Lys500Arg) | |
| 18 | g.7015777T>G | CA401850519 | LAMA1 | c.3071A>C (p.Lys1024Thr) n.4086A>C c.1499A>C (p.Lys500Thr) | |
| 18 | g.7015777_7015778insGC | CA2640920276 | LAMA1 | c.3070_3071insGC (p.Lys1024SerfsTer?) n.4085_4086insGC c.1498_1499insGC (p.Lys500SerfsTer?) | gnomAD v4 |
| 18 | g.7015778T>A | CA401850522 | LAMA1 | c.3070A>T (p.Lys1024Ter) n.4085A>T c.1498A>T (p.Lys500Ter) | |
| 18 | g.7015778T>C | CA401850521 | LAMA1 | c.3070A>G (p.Lys1024Glu) n.4085A>G c.1498A>G (p.Lys500Glu) | |
| 18 | g.7015778T>G | CA401850520 | LAMA1 | c.3070A>C (p.Lys1024Gln) n.4085A>C c.1498A>C (p.Lys500Gln) | |
| 18 | g.7015779C>A | CA502490155 | LAMA1 | c.3069G>T (p.Val1023=) n.4084G>T c.1497G>T (p.Val499=) | |
| 18 | g.7015779C= | CA2282694622 | LAMA1 | c.3069G= (p.Val1023=) n.4084G= c.1497G= (p.Val499=) | |
| 18 | g.7015779C>G | CA502490156 | LAMA1 | c.3069G>C (p.Val1023=) n.4084G>C c.1497G>C (p.Val499=) | |
| 18 | g.7015779C>T | CA502490158 | LAMA1 | c.3069G>A (p.Val1023=) n.4084G>A c.1497G>A (p.Val499=) | dbSNP gnomAD v4 |
| 18 | g.7015780A>C | CA401850523 | LAMA1 | c.3068T>G (p.Val1023Gly) n.4083T>G c.1496T>G (p.Val499Gly) | |
| 18 | g.7015780A>G | CA401850524 | LAMA1 | c.3068T>C (p.Val1023Ala) n.4083T>C c.1496T>C (p.Val499Ala) | |
| 18 | g.7015780A>T | CA401850525 | LAMA1 | c.3068T>A (p.Val1023Glu) n.4083T>A c.1496T>A (p.Val499Glu) | gnomAD v4 |
| 18 | g.7015781C>A | CA401850526 | LAMA1 | c.3067G>T (p.Val1023Leu) n.4082G>T c.1495G>T (p.Val499Leu) | gnomAD v4 |
| 18 | g.7015781C= | CA2282694623 | LAMA1 | c.3067G= (p.Val1023=) n.4082G= c.1495G= (p.Val499=) | |
| 18 | g.7015781C>G | CA401850527 | LAMA1 | c.3067G>C (p.Val1023Leu) n.4082G>C c.1495G>C (p.Val499Leu) | |
| 18 | g.7015781C>T | CA401850528 | LAMA1 | c.3067G>A (p.Val1023Met) n.4082G>A c.1495G>A (p.Val499Met) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015782A= | CA2282694624 | LAMA1 | c.3066T= (p.Gly1022=) n.4081T= c.1494T= (p.Gly498=) | |
| 18 | g.7015782A>C | CA502490165 | LAMA1 | c.3066T>G (p.Gly1022=) n.4081T>G c.1494T>G (p.Gly498=) | dbSNP |
| 18 | g.7015782A>G | CA502490167 | LAMA1 | c.3066T>C (p.Gly1022=) n.4081T>C c.1494T>C (p.Gly498=) | |
| 18 | g.7015782A>T | CA502490169 | LAMA1 | c.3066T>A (p.Gly1022=) n.4081T>A c.1494T>A (p.Gly498=) | |
| 18 | g.7015783C>A | CA401850529 | LAMA1 | c.3065G>T (p.Gly1022Val) n.4080G>T c.1493G>T (p.Gly498Val) | gnomAD v4 |
| 18 | g.7015783C>G | CA401850530 | LAMA1 | c.3065G>C (p.Gly1022Ala) n.4080G>C c.1493G>C (p.Gly498Ala) | |
| 18 | g.7015783C>T | CA401850531 | LAMA1 | c.3065G>A (p.Gly1022Asp) n.4080G>A c.1493G>A (p.Gly498Asp) | |
| 18 | g.7015785del | CA2640920283 | LAMA1 | c.3065del (p.Gly1022ValfsTer2) n.4080del c.1493del (p.Gly498ValfsTer2) | gnomAD v4 |
| 18 | g.7015784C>A | CA401850532 | LAMA1 | c.3064G>T (p.Gly1022Cys) n.4079G>T c.1492G>T (p.Gly498Cys) | |
| 18 | g.7015784C>G | CA401850533 | LAMA1 | c.3064G>C (p.Gly1022Arg) n.4079G>C c.1492G>C (p.Gly498Arg) | |
| 18 | g.7015784C>T | CA401850534 | LAMA1 | c.3064G>A (p.Gly1022Ser) n.4079G>A c.1492G>A (p.Gly498Ser) | |
| 18 | g.7015784_7015785insGTCCTTC | CA2640920287 | LAMA1 | c.3064_3065insAAGGACG (p.Gly1022GlufsTer7) n.4079_4080insAAGGACG c.1492_1493insAAGGACG (p.Gly498GlufsTer7) | gnomAD v4 |
| 18 | g.7015785C>A | CA401850536 | LAMA1 | c.3063G>T (p.Gln1021His) n.4078G>T c.1491G>T (p.Gln497His) | |
| 18 | g.7015785C= | CA2282694625 | LAMA1 | c.3063G= (p.Gln1021=) n.4078G= c.1491G= (p.Gln497=) | |
| 18 | g.7015785C>G | CA401850535 | LAMA1 | c.3063G>C (p.Gln1021His) n.4078G>C c.1491G>C (p.Gln497His) | ClinVar gnomAD v4 |
| 18 | g.7015785C>T | CA8882412 | LAMA1 | c.3063G>A (p.Gln1021=) n.4078G>A c.1491G>A (p.Gln497=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015786T>A | CA401850537 | LAMA1 | c.3062A>T (p.Gln1021Leu) n.4077A>T c.1490A>T (p.Gln497Leu) | |
| 18 | g.7015786T>C | CA401850538 | LAMA1 | c.3062A>G (p.Gln1021Arg) n.4077A>G c.1490A>G (p.Gln497Arg) | |
| 18 | g.7015786T>G | CA295779604 | LAMA1 | c.3062A>C (p.Gln1021Pro) n.4077A>C c.1490A>C (p.Gln497Pro) | dbSNP |
| 18 | g.7015786T= | CA2282694626 | LAMA1 | c.3062A= (p.Gln1021=) n.4077A= c.1490A= (p.Gln497=) | |
| 18 | g.7015787G>A | CA401850539 | LAMA1 | c.3061C>T (p.Gln1021Ter) n.4076C>T c.1489C>T (p.Gln497Ter) | gnomAD v4 |
| 18 | g.7015787G>C | CA401850540 | LAMA1 | c.3061C>G (p.Gln1021Glu) n.4076C>G c.1489C>G (p.Gln497Glu) | gnomAD v4 |
| 18 | g.7015787G>T | CA401850541 | LAMA1 | c.3061C>A (p.Gln1021Lys) n.4076C>A c.1489C>A (p.Gln497Lys) | |
| 18 | g.7015788T>A | CA502490186 | LAMA1 | c.3060A>T (p.Thr1020=) n.4075A>T c.1488A>T (p.Thr496=) | |
| 18 | g.7015788T>C | CA502490188 | LAMA1 | c.3060A>G (p.Thr1020=) n.4075A>G c.1488A>G (p.Thr496=) | |
| 18 | g.7015788T>G | CA502490190 | LAMA1 | c.3060A>C (p.Thr1020=) n.4075A>C c.1488A>C (p.Thr496=) | |
| 18 | g.7015789G>A | CA401850544 | LAMA1 | c.3059C>T (p.Thr1020Ile) n.4074C>T c.1487C>T (p.Thr496Ile) | |
| 18 | g.7015789G>C | CA401850542 | LAMA1 | c.3059C>G (p.Thr1020Arg) n.4074C>G c.1487C>G (p.Thr496Arg) | |
| 18 | g.7015789G>T | CA401850543 | LAMA1 | c.3059C>A (p.Thr1020Lys) n.4074C>A c.1487C>A (p.Thr496Lys) | |
| 18 | g.7015789_7015790insAGCCG | CA2640920296 | LAMA1 | c.3059_3060insGGCTC (p.Gln1021AlafsTer5) n.4074_4075insGGCTC c.1487_1488insGGCTC (p.Gln497AlafsTer5) | gnomAD v4 |
| 18 | g.7015790T>A | CA401850545 | LAMA1 | c.3058A>T (p.Thr1020Ser) n.4073A>T c.1486A>T (p.Thr496Ser) | |
| 18 | g.7015790T>C | CA401850546 | LAMA1 | c.3058A>G (p.Thr1020Ala) n.4073A>G c.1486A>G (p.Thr496Ala) | |
| 18 | g.7015790T>G | CA401850547 | LAMA1 | c.3058A>C (p.Thr1020Pro) n.4073A>C c.1486A>C (p.Thr496Pro) | |
| 18 | g.7015791G>A | CA502490197 | LAMA1 | c.3057C>T (p.His1019=) n.4072C>T c.1485C>T (p.His495=) | dbSNP |
| 18 | g.7015791G>C | CA401850548 | LAMA1 | c.3057C>G (p.His1019Gln) n.4072C>G c.1485C>G (p.His495Gln) | |
| 18 | g.7015791G>T | CA401850549 | LAMA1 | c.3057C>A (p.His1019Gln) n.4072C>A c.1485C>A (p.His495Gln) | |
| 18 | g.7015792T>A | CA401850550 | LAMA1 | c.3056A>T (p.His1019Leu) n.4071A>T c.1484A>T (p.His495Leu) | |
| 18 | g.7015792T>C | CA401850552 | LAMA1 | c.3056A>G (p.His1019Arg) n.4071A>G c.1484A>G (p.His495Arg) | |
| 18 | g.7015792T>G | CA401850551 | LAMA1 | c.3056A>C (p.His1019Pro) n.4071A>C c.1484A>C (p.His495Pro) | |
| 18 | g.7015793G>A | CA401850553 | LAMA1 | c.3055C>T (p.His1019Tyr) n.4070C>T c.1483C>T (p.His495Tyr) | |
| 18 | g.7015793G>C | CA401850554 | LAMA1 | c.3055C>G (p.His1019Asp) n.4070C>G c.1483C>G (p.His495Asp) | |
| 18 | g.7015793G>T | CA401850555 | LAMA1 | c.3055C>A (p.His1019Asn) n.4070C>A c.1483C>A (p.His495Asn) | ClinVar gnomAD v4 |
| 18 | g.7015794A= | CA2282694627 | LAMA1 | c.3054T= (p.Pro1018=) n.4069T= c.1482T= (p.Pro494=) | |
| 18 | g.7015794A>C | CA502490201 | LAMA1 | c.3054T>G (p.Pro1018=) n.4069T>G c.1482T>G (p.Pro494=) | |
| 18 | g.7015794A>G | CA502490202 | LAMA1 | c.3054T>C (p.Pro1018=) n.4069T>C c.1482T>C (p.Pro494=) | |
| 18 | g.7015794A>T | CA502490203 | LAMA1 | c.3054T>A (p.Pro1018=) n.4069T>A c.1482T>A (p.Pro494=) | |
| 18 | g.7015795G>A | CA401850556 | LAMA1 | c.3053C>T (p.Pro1018Leu) n.4068C>T c.1481C>T (p.Pro494Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015795G>C | CA8882414 | LAMA1 | c.3053C>G (p.Pro1018Arg) n.4068C>G c.1481C>G (p.Pro494Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015795G= | CA2282694628 | LAMA1 | c.3053C= (p.Pro1018=) n.4068C= c.1481C= (p.Pro494=) | |
| 18 | g.7015795G>T | CA401850557 | LAMA1 | c.3053C>A (p.Pro1018His) n.4068C>A c.1481C>A (p.Pro494His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015800dup | CA8882413 | LAMA1 | c.3053dup (p.His1019SerfsTer8) n.4068dup c.1481dup (p.His495SerfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015800del | CA2499225248 | LAMA1 | c.3053del (p.Pro1018LeufsTer6) n.4068del c.1481del (p.Pro494LeufsTer6) | ClinVar dbSNP gnomAD v4 |
| 18 | g.7015796G>A | CA401850558 | LAMA1 | c.3052C>T (p.Pro1018Ser) n.4067C>T c.1480C>T (p.Pro494Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015796G>C | CA8882415 | LAMA1 | c.3052C>G (p.Pro1018Ala) n.4067C>G c.1480C>G (p.Pro494Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015796G= | CA2282694629 | LAMA1 | c.3052C= (p.Pro1018=) n.4067C= c.1480C= (p.Pro494=) | |
| 18 | g.7015796G>T | CA8882416 | LAMA1 | c.3052C>A (p.Pro1018Thr) n.4067C>A c.1480C>A (p.Pro494Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015797G>A | CA8882417 | LAMA1 | c.3051C>T (p.Pro1017=) n.4066C>T c.1479C>T (p.Pro493=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 18 | g.7015797G>C | CA502490207 | LAMA1 | c.3051C>G (p.Pro1017=) n.4066C>G c.1479C>G (p.Pro493=) | gnomAD v4 |
| 18 | g.7015797G= | CA2282694630 | LAMA1 | c.3051C= (p.Pro1017=) n.4066C= c.1479C= (p.Pro493=) | |
| 18 | g.7015797G>T | CA502490209 | LAMA1 | c.3051C>A (p.Pro1017=) n.4066C>A c.1479C>A (p.Pro493=) | dbSNP gnomAD v4 |
| 18 | g.7015798G>A | CA401850560 | LAMA1 | c.3050C>T (p.Pro1017Leu) n.4065C>T c.1478C>T (p.Pro493Leu) | |
| 18 | g.7015798G>C | CA401850561 | LAMA1 | c.3050C>G (p.Pro1017Arg) n.4065C>G c.1478C>G (p.Pro493Arg) | |
| 18 | g.7015798G= | CA2282694631 | LAMA1 | c.3050C= (p.Pro1017=) n.4065C= c.1478C= (p.Pro493=) | |
| 18 | g.7015798G>T | CA401850559 | LAMA1 | c.3050C>A (p.Pro1017His) n.4065C>A c.1478C>A (p.Pro493His) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015799G>A | CA401850564 | LAMA1 | c.3049C>T (p.Pro1017Ser) n.4064C>T c.1477C>T (p.Pro493Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.7015799G>C | CA401850562 | LAMA1 | c.3049C>G (p.Pro1017Ala) n.4064C>G c.1477C>G (p.Pro493Ala) | |
| 18 | g.7015799G= | CA2282694632 | LAMA1 | c.3049C= (p.Pro1017=) n.4064C= c.1477C= (p.Pro493=) | |
| 18 | g.7015799G>T | CA401850563 | LAMA1 | c.3049C>A (p.Pro1017Thr) n.4064C>A c.1477C>A (p.Pro493Thr) | |
| 18 | g.7015800G>A | CA8882418 | LAMA1 | c.3048C>T (p.Cys1016=) n.4063C>T c.1476C>T (p.Cys492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015800G>C | CA401850565 | LAMA1 | c.3048C>G (p.Cys1016Trp) n.4063C>G c.1476C>G (p.Cys492Trp) | |
| 18 | g.7015800G= | CA2282694633 | LAMA1 | c.3048C= (p.Cys1016=) n.4063C= c.1476C= (p.Cys492=) | |
| 18 | g.7015800G>T | CA295779663 | LAMA1 | c.3048C>A (p.Cys1016Ter) n.4063C>A c.1476C>A (p.Cys492Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015801C>A | CA401850566 | LAMA1 | c.3047G>T (p.Cys1016Phe) n.4062G>T c.1475G>T (p.Cys492Phe) | |
| 18 | g.7015801C>G | CA401850567 | LAMA1 | c.3047G>C (p.Cys1016Ser) n.4062G>C c.1475G>C (p.Cys492Ser) | |
| 18 | g.7015801C>T | CA401850568 | LAMA1 | c.3047G>A (p.Cys1016Tyr) n.4062G>A c.1475G>A (p.Cys492Tyr) | |
| 18 | g.7015802A>C | CA401850569 | LAMA1 | c.3046T>G (p.Cys1016Gly) n.4061T>G c.1474T>G (p.Cys492Gly) | gnomAD v4 |
| 18 | g.7015802A>G | CA401850570 | LAMA1 | c.3046T>C (p.Cys1016Arg) n.4061T>C c.1474T>C (p.Cys492Arg) | |
| 18 | g.7015802A>T | CA401850571 | LAMA1 | c.3046T>A (p.Cys1016Ser) n.4061T>A c.1474T>A (p.Cys492Ser) | COSMIC |
| 18 | g.7015803G>A | CA502490227 | LAMA1 | c.3045C>T (p.Val1015=) n.4060C>T c.1473C>T (p.Val491=) | |
| 18 | g.7015803G>C | CA502490229 | LAMA1 | c.3045C>G (p.Val1015=) n.4060C>G c.1473C>G (p.Val491=) | gnomAD v4 |
| 18 | g.7015803G>T | CA502490231 | LAMA1 | c.3045C>A (p.Val1015=) n.4060C>A c.1473C>A (p.Val491=) | |
| 18 | g.7015804A>C | CA401850574 | LAMA1 | c.3044T>G (p.Val1015Gly) n.4059T>G c.1472T>G (p.Val491Gly) | |
| 18 | g.7015804A>G | CA401850573 | LAMA1 | c.3044T>C (p.Val1015Ala) n.4059T>C c.1472T>C (p.Val491Ala) | COSMIC |
| 18 | g.7015804A>T | CA401850572 | LAMA1 | c.3044T>A (p.Val1015Asp) n.4059T>A c.1472T>A (p.Val491Asp) | |
| 18 | g.7015805C>A | CA401850575 | LAMA1 | c.3043G>T (p.Val1015Phe) n.4058G>T c.1471G>T (p.Val491Phe) | |
| 18 | g.7015805C>G | CA401850576 | LAMA1 | c.3043G>C (p.Val1015Leu) n.4058G>C c.1471G>C (p.Val491Leu) | |
| 18 | g.7015805C>T | CA401850577 | LAMA1 | c.3043G>A (p.Val1015Ile) n.4058G>A c.1471G>A (p.Val491Ile) | |
| 18 | g.7015806A>C | CA401850578 | LAMA1 | c.3042T>G (p.Cys1014Trp) n.4057T>G c.1470T>G (p.Cys490Trp) | |
| 18 | g.7015806A>G | CA502490240 | LAMA1 | c.3042T>C (p.Cys1014=) n.4057T>C c.1470T>C (p.Cys490=) | |
| 18 | g.7015806A>T | CA401850579 | LAMA1 | c.3042T>A (p.Cys1014Ter) n.4057T>A c.1470T>A (p.Cys490Ter) | ClinVar gnomAD v4 |
| 18 | g.7015807C>A | CA401850580 | LAMA1 | c.3041G>T (p.Cys1014Phe) n.4056G>T c.1469G>T (p.Cys490Phe) | gnomAD v4 |
| 18 | g.7015807C= | CA2282694634 | LAMA1 | c.3041G= (p.Cys1014=) n.4056G= c.1469G= (p.Cys490=) | |
| 18 | g.7015807C>G | CA401850581 | LAMA1 | c.3041G>C (p.Cys1014Ser) n.4056G>C c.1469G>C (p.Cys490Ser) | |
| 18 | g.7015807C>T | CA401850582 | LAMA1 | c.3041G>A (p.Cys1014Tyr) n.4056G>A c.1469G>A (p.Cys490Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015808A= | CA2282694635 | LAMA1 | c.3040T= (p.Cys1014=) n.4055T= c.1468T= (p.Cys490=) | |
| 18 | g.7015808A>C | CA401850583 | LAMA1 | c.3040T>G (p.Cys1014Gly) n.4055T>G c.1468T>G (p.Cys490Gly) | |
| 18 | g.7015808A>G | CA8882419 | LAMA1 | c.3040T>C (p.Cys1014Arg) n.4055T>C c.1468T>C (p.Cys490Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015808A>T | CA401850584 | LAMA1 | c.3040T>A (p.Cys1014Ser) n.4055T>A c.1468T>A (p.Cys490Ser) | |
| 18 | g.7015809C>A | CA401850585 | LAMA1 | c.3039G>T (p.Glu1013Asp) n.4054G>T c.1467G>T (p.Glu489Asp) | |
| 18 | g.7015809C>G | CA401850586 | LAMA1 | c.3039G>C (p.Glu1013Asp) n.4054G>C c.1467G>C (p.Glu489Asp) | |
| 18 | g.7015809C>T | CA502490256 | LAMA1 | c.3039G>A (p.Glu1013=) n.4054G>A c.1467G>A (p.Glu489=) | |
| 18 | g.7015812_7015813del | CA2576450398 | LAMA1 | c.3038_3039del (p.Glu1013ValfsTer13) n.4053_4054del c.1466_1467del (p.Glu489ValfsTer13) | |
| 18 | g.7015810T>A | CA401850589 | LAMA1 | c.3038A>T (p.Glu1013Val) n.4053A>T c.1466A>T (p.Glu489Val) | |
| 18 | g.7015810T>C | CA401850588 | LAMA1 | c.3038A>G (p.Glu1013Gly) n.4053A>G c.1466A>G (p.Glu489Gly) | |
| 18 | g.7015810T>G | CA401850587 | LAMA1 | c.3038A>C (p.Glu1013Ala) n.4053A>C c.1466A>C (p.Glu489Ala) | |
| 18 | g.7015811C>A | CA401850590 | LAMA1 | c.3037G>T (p.Glu1013Ter) n.4052G>T c.1465G>T (p.Glu489Ter) | |
| 18 | g.7015811C= | CA2282694636 | LAMA1 | c.3037G= (p.Glu1013=) n.4052G= c.1465G= (p.Glu489=) | |
| 18 | g.7015811C>G | CA8882420 | LAMA1 | c.3037G>C (p.Glu1013Gln) n.4052G>C c.1465G>C (p.Glu489Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015811C>T | CA8882421 | LAMA1 | c.3037G>A (p.Glu1013Lys) n.4052G>A c.1465G>A (p.Glu489Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015812T>A | CA502490266 | LAMA1 | c.3036A>T (p.Gly1012=) n.4051A>T c.1464A>T (p.Gly488=) | |
| 18 | g.7015812T>C | CA502490267 | LAMA1 | c.3036A>G (p.Gly1012=) n.4051A>G c.1464A>G (p.Gly488=) | |
| 18 | g.7015812T>G | CA502490269 | LAMA1 | c.3036A>C (p.Gly1012=) n.4051A>C c.1464A>C (p.Gly488=) | |
| 18 | g.7015813C>A | CA401850591 | LAMA1 | c.3035G>T (p.Gly1012Val) n.4050G>T c.1463G>T (p.Gly488Val) | |
| 18 | g.7015813C>G | CA401850592 | LAMA1 | c.3035G>C (p.Gly1012Ala) n.4050G>C c.1463G>C (p.Gly488Ala) | |
| 18 | g.7015813C>T | CA401850593 | LAMA1 | c.3035G>A (p.Gly1012Glu) n.4050G>A c.1463G>A (p.Gly488Glu) | |
| 18 | g.7015814C>A | CA401850594 | LAMA1 | c.3034G>T (p.Gly1012Ter) n.4049G>T c.1462G>T (p.Gly488Ter) | |
| 18 | g.7015814C>G | CA401850595 | LAMA1 | c.3034G>C (p.Gly1012Arg) n.4049G>C c.1462G>C (p.Gly488Arg) | |
| 18 | g.7015814C>T | CA401850596 | LAMA1 | c.3034G>A (p.Gly1012Arg) n.4049G>A c.1462G>A (p.Gly488Arg) | COSMIC |
| 18 | g.7015815A= | CA2282694637 | LAMA1 | c.3033T= (p.Thr1011=) n.4048T= c.1461T= (p.Thr487=) | |
| 18 | g.7015815A>C | CA502490279 | LAMA1 | c.3033T>G (p.Thr1011=) n.4048T>G c.1461T>G (p.Thr487=) | |
| 18 | g.7015815A>G | CA502490281 | LAMA1 | c.3033T>C (p.Thr1011=) n.4048T>C c.1461T>C (p.Thr487=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015815A>T | CA502490283 | LAMA1 | c.3033T>A (p.Thr1011=) n.4048T>A c.1461T>A (p.Thr487=) | |
| 18 | g.7015816G>A | CA401850597 | LAMA1 | c.3032C>T (p.Thr1011Ile) n.4047C>T c.1460C>T (p.Thr487Ile) | |
| 18 | g.7015816G>C | CA401850598 | LAMA1 | c.3032C>G (p.Thr1011Ser) n.4047C>G c.1460C>G (p.Thr487Ser) | |
| 18 | g.7015816G>T | CA401850599 | LAMA1 | c.3032C>A (p.Thr1011Asn) n.4047C>A c.1460C>A (p.Thr487Asn) | |
| 18 | g.7015817T>A | CA401850600 | LAMA1 | c.3031A>T (p.Thr1011Ser) n.4046A>T c.1459A>T (p.Thr487Ser) | |
| 18 | g.7015817T>C | CA401850601 | LAMA1 | c.3031A>G (p.Thr1011Ala) n.4046A>G c.1459A>G (p.Thr487Ala) | |
| 18 | g.7015817T>G | CA401850602 | LAMA1 | c.3031A>C (p.Thr1011Pro) n.4046A>C c.1459A>C (p.Thr487Pro) | |
| 18 | g.7015818T>A | CA401850603 | LAMA1 | c.3030A>T (p.Glu1010Asp) n.4045A>T c.1458A>T (p.Glu486Asp) | |
| 18 | g.7015818T>C | CA502490291 | LAMA1 | c.3030A>G (p.Glu1010=) n.4045A>G c.1458A>G (p.Glu486=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015818T>G | CA401850604 | LAMA1 | c.3030A>C (p.Glu1010Asp) n.4045A>C c.1458A>C (p.Glu486Asp) | |
| 18 | g.7015818T= | CA2282694638 | LAMA1 | c.3030A= (p.Glu1010=) n.4045A= c.1458A= (p.Glu486=) | |
| 18 | g.7015819T>A | CA401850605 | LAMA1 | c.3029A>T (p.Glu1010Val) n.4044A>T c.1457A>T (p.Glu486Val) | |
| 18 | g.7015819T>C | CA401850606 | LAMA1 | c.3029A>G (p.Glu1010Gly) n.4044A>G c.1457A>G (p.Glu486Gly) | dbSNP |
| 18 | g.7015819T>G | CA401850607 | LAMA1 | c.3029A>C (p.Glu1010Ala) n.4044A>C c.1457A>C (p.Glu486Ala) | |
| 18 | g.7015819T= | CA2282694639 | LAMA1 | c.3029A= (p.Glu1010=) n.4044A= c.1457A= (p.Glu486=) | |
| 18 | g.7015820C>A | CA401850608 | LAMA1 | c.3028G>T (p.Glu1010Ter) n.4043G>T c.1456G>T (p.Glu486Ter) | |
| 18 | g.7015820C>G | CA401850609 | LAMA1 | c.3028G>C (p.Glu1010Gln) n.4043G>C c.1456G>C (p.Glu486Gln) | |
| 18 | g.7015820C>T | CA401850610 | LAMA1 | c.3028G>A (p.Glu1010Lys) n.4043G>A c.1456G>A (p.Glu486Lys) | gnomAD v4 |
| 18 | g.7015821T>A | CA502490303 | LAMA1 | c.3027A>T (p.Pro1009=) n.4042A>T c.1455A>T (p.Pro485=) | |
| 18 | g.7015821T>C | CA8882422 | LAMA1 | c.3027A>G (p.Pro1009=) n.4042A>G c.1455A>G (p.Pro485=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015821T>G | CA502490307 | LAMA1 | c.3027A>C (p.Pro1009=) n.4042A>C c.1455A>C (p.Pro485=) | |
| 18 | g.7015821T= | CA2282694640 | LAMA1 | c.3027A= (p.Pro1009=) n.4042A= c.1455A= (p.Pro485=) | |
| 18 | g.7015822G>A | CA401850611 | LAMA1 | c.3026C>T (p.Pro1009Leu) n.4041C>T c.1454C>T (p.Pro485Leu) | |
| 18 | g.7015822G>C | CA401850612 | LAMA1 | c.3026C>G (p.Pro1009Arg) n.4041C>G c.1454C>G (p.Pro485Arg) | |
| 18 | g.7015822G>T | CA401850613 | LAMA1 | c.3026C>A (p.Pro1009Gln) n.4041C>A c.1454C>A (p.Pro485Gln) | |
| 18 | g.7015823G>A | CA401850614 | LAMA1 | c.3025C>T (p.Pro1009Ser) n.4040C>T c.1453C>T (p.Pro485Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.7015823G>C | CA401850615 | LAMA1 | c.3025C>G (p.Pro1009Ala) n.4040C>G c.1453C>G (p.Pro485Ala) | |
| 18 | g.7015823G= | CA2282694641 | LAMA1 | c.3025C= (p.Pro1009=) n.4040C= c.1453C= (p.Pro485=) | |
| 18 | g.7015823G>T | CA401850616 | LAMA1 | c.3025C>A (p.Pro1009Thr) n.4040C>A c.1453C>A (p.Pro485Thr) | |
| 18 | g.7015824G>A | CA8882423 | LAMA1 | c.3024C>T (p.Asp1008=) n.4039C>T c.1452C>T (p.Asp484=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015824G>C | CA401850618 | LAMA1 | c.3024C>G (p.Asp1008Glu) n.4039C>G c.1452C>G (p.Asp484Glu) | |
| 18 | g.7015824G= | CA2282694642 | LAMA1 | c.3024C= (p.Asp1008=) n.4039C= c.1452C= (p.Asp484=) | |
| 18 | g.7015824G>T | CA401850617 | LAMA1 | c.3024C>A (p.Asp1008Glu) n.4039C>A c.1452C>A (p.Asp484Glu) | |
| 18 | g.7015825T>A | CA401850619 | LAMA1 | c.3023A>T (p.Asp1008Val) n.4038A>T c.1451A>T (p.Asp484Val) | |
| 18 | g.7015825T>C | CA401850621 | LAMA1 | c.3023A>G (p.Asp1008Gly) n.4038A>G c.1451A>G (p.Asp484Gly) | |
| 18 | g.7015825T>G | CA401850620 | LAMA1 | c.3023A>C (p.Asp1008Ala) n.4038A>C c.1451A>C (p.Asp484Ala) | |
| 18 | g.7015826C>A | CA401850622 | LAMA1 | c.3022G>T (p.Asp1008Tyr) n.4037G>T c.1450G>T (p.Asp484Tyr) | |
| 18 | g.7015826C= | CA2282694643 | LAMA1 | c.3022G= (p.Asp1008=) n.4037G= c.1450G= (p.Asp484=) | |
| 18 | g.7015826C>G | CA401850623 | LAMA1 | c.3022G>C (p.Asp1008His) n.4037G>C c.1450G>C (p.Asp484His) | |
| 18 | g.7015826C>T | CA8882424 | LAMA1 | c.3022G>A (p.Asp1008Asn) n.4037G>A c.1450G>A (p.Asp484Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015827G>A | CA8882425 | LAMA1 | c.3021C>T (p.Cys1007=) n.4036C>T c.1449C>T (p.Cys483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015827G>C | CA401850624 | LAMA1 | c.3021C>G (p.Cys1007Trp) n.4036C>G c.1449C>G (p.Cys483Trp) | |
| 18 | g.7015827G= | CA2282694644 | LAMA1 | c.3021C= (p.Cys1007=) n.4036C= c.1449C= (p.Cys483=) | |
| 18 | g.7015827G>T | CA8882426 | LAMA1 | c.3021C>A (p.Cys1007Ter) n.4036C>A c.1449C>A (p.Cys483Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015828C>A | CA401850625 | LAMA1 | c.3020G>T (p.Cys1007Phe) n.4035G>T c.1448G>T (p.Cys483Phe) | |
| 18 | g.7015828C>G | CA401850626 | LAMA1 | c.3020G>C (p.Cys1007Ser) n.4035G>C c.1448G>C (p.Cys483Ser) | |
| 18 | g.7015828C>T | CA401850627 | LAMA1 | c.3020G>A (p.Cys1007Tyr) n.4035G>A c.1448G>A (p.Cys483Tyr) | |
| 18 | g.7015829A>C | CA401850628 | LAMA1 | c.3019T>G (p.Cys1007Gly) n.4034T>G c.1447T>G (p.Cys483Gly) | |
| 18 | g.7015829A>G | CA401850629 | LAMA1 | c.3019T>C (p.Cys1007Arg) n.4034T>C c.1447T>C (p.Cys483Arg) | |
| 18 | g.7015829A>T | CA401850630 | LAMA1 | c.3019T>A (p.Cys1007Ser) n.4034T>A c.1447T>A (p.Cys483Ser) | |
| 18 | g.7015830G>A | CA502490338 | LAMA1 | c.3018C>T (p.Thr1006=) n.4033C>T c.1446C>T (p.Thr482=) | gnomAD v4 |
| 18 | g.7015830G>C | CA502490341 | LAMA1 | c.3018C>G (p.Thr1006=) n.4033C>G c.1446C>G (p.Thr482=) | |
| 18 | g.7015830G= | CA2282694645 | LAMA1 | c.3018C= (p.Thr1006=) n.4033C= c.1446C= (p.Thr482=) | |
| 18 | g.7015830G>T | CA8882427 | LAMA1 | c.3018C>A (p.Thr1006=) n.4033C>A c.1446C>A (p.Thr482=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015830_7015831insT | CA987524549 | LAMA1 | c.3017_3018insA (p.Cys1007LeufsTer20) n.4032_4033insA c.1445_1446insA (p.Cys483LeufsTer20) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015831G>A | CA401850631 | LAMA1 | c.3017C>T (p.Thr1006Ile) n.4032C>T c.1445C>T (p.Thr482Ile) | |
| 18 | g.7015831G>C | CA401850633 | LAMA1 | c.3017C>G (p.Thr1006Ser) n.4032C>G c.1445C>G (p.Thr482Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015831G= | CA2282694646 | LAMA1 | c.3017C= (p.Thr1006=) n.4032C= c.1445C= (p.Thr482=) | |
| 18 | g.7015831G>T | CA401850632 | LAMA1 | c.3017C>A (p.Thr1006Asn) n.4032C>A c.1445C>A (p.Thr482Asn) | |
| 18 | g.7015832T>A | CA401850634 | LAMA1 | c.3016A>T (p.Thr1006Ser) n.4031A>T c.1444A>T (p.Thr482Ser) | |
| 18 | g.7015832T>C | CA401850635 | LAMA1 | c.3016A>G (p.Thr1006Ala) n.4031A>G c.1444A>G (p.Thr482Ala) | |
| 18 | g.7015832T>G | CA401850636 | LAMA1 | c.3016A>C (p.Thr1006Pro) n.4031A>C c.1444A>C (p.Thr482Pro) | |
| 18 | g.7015833A>C | CA401850637 | LAMA1 | c.3015T>G (p.Asn1005Lys) n.4030T>G c.1443T>G (p.Asn481Lys) | |
| 18 | g.7015833A>G | CA502490353 | LAMA1 | c.3015T>C (p.Asn1005=) n.4030T>C c.1443T>C (p.Asn481=) | |
| 18 | g.7015833A>T | CA401850638 | LAMA1 | c.3015T>A (p.Asn1005Lys) n.4030T>A c.1443T>A (p.Asn481Lys) | |
| 18 | g.7015834T>A | CA401850639 | LAMA1 | c.3014A>T (p.Asn1005Ile) n.4029A>T c.1442A>T (p.Asn481Ile) | |
| 18 | g.7015834T>C | CA401850640 | LAMA1 | c.3014A>G (p.Asn1005Ser) n.4029A>G c.1442A>G (p.Asn481Ser) | |
| 18 | g.7015834T>G | CA401850641 | LAMA1 | c.3014A>C (p.Asn1005Thr) n.4029A>C c.1442A>C (p.Asn481Thr) | |
| 18 | g.7015835T>A | CA401850642 | LAMA1 | c.3013A>T (p.Asn1005Tyr) n.4028A>T c.1441A>T (p.Asn481Tyr) | |
| 18 | g.7015835T>C | CA401850643 | LAMA1 | c.3013A>G (p.Asn1005Asp) n.4028A>G c.1441A>G (p.Asn481Asp) | |
| 18 | g.7015835T>G | CA401850644 | LAMA1 | c.3013A>C (p.Asn1005His) n.4028A>C c.1441A>C (p.Asn481His) | |
| 18 | g.7015836C>A | CA401850645 | LAMA1 | c.3012G>T (p.Gln1004His) n.4027G>T c.1440G>T (p.Gln480His) | |
| 18 | g.7015836C>G | CA401850646 | LAMA1 | c.3012G>C (p.Gln1004His) n.4027G>C c.1440G>C (p.Gln480His) | |
| 18 | g.7015836C>T | CA502490368 | LAMA1 | c.3012G>A (p.Gln1004=) n.4027G>A c.1440G>A (p.Gln480=) |