Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.7015734C>A | CA401850419 | LAMA1 | c.3114G>T (p.Glu1038Asp) n.4129G>T c.1542G>T (p.Glu514Asp) | |
18 | g.7015734C= | CA2282694599 | LAMA1 | c.3114G= (p.Glu1038=) n.4129G= c.1542G= (p.Glu514=) | |
18 | g.7015734C>G | CA401850420 | LAMA1 | c.3114G>C (p.Glu1038Asp) n.4129G>C c.1542G>C (p.Glu514Asp) | |
18 | g.7015734C>T | CA502489995 | LAMA1 | c.3114G>A (p.Glu1038=) n.4129G>A c.1542G>A (p.Glu514=) | dbSNP |
18 | g.7015735T>A | CA401850421 | LAMA1 | c.3113A>T (p.Glu1038Val) n.4128A>T c.1541A>T (p.Glu514Val) | |
18 | g.7015735T>C | CA401850422 | LAMA1 | c.3113A>G (p.Glu1038Gly) n.4128A>G c.1541A>G (p.Glu514Gly) | dbSNP |
18 | g.7015735T>G | CA401850423 | LAMA1 | c.3113A>C (p.Glu1038Ala) n.4128A>C c.1541A>C (p.Glu514Ala) | |
18 | g.7015735T= | CA2282694600 | LAMA1 | c.3113A= (p.Glu1038=) n.4128A= c.1541A= (p.Glu514=) | |
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=) |