Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151186889A= | CA1752545595 | ASB10 | c.242T= (p.Leu81=) c.272-230T= (n.272-230T=) c.*286T= (n.*286T=) c.377T= (p.Leu126=) | |
7 | g.151186889A>C | CA370037451 | ASB10 | c.242T>G (p.Leu81Arg) c.272-230T>G (n.272-230T>G) c.*286T>G (n.*286T>G) c.377T>G (p.Leu126Arg) | |
7 | g.151186889A>G | CA370037453 | ASB10 | c.242T>C (p.Leu81Pro) c.272-230T>C (n.272-230T>C) c.*286T>C (n.*286T>C) c.377T>C (p.Leu126Pro) | gnomAD v4 |
7 | g.151186889A>T | CA370037452 | ASB10 | c.242T>A (p.Leu81Gln) c.272-230T>A (n.272-230T>A) c.*286T>A (n.*286T>A) c.377T>A (p.Leu126Gln) | |
7 | g.151186890G>A | CA458881488 | ASB10 | c.241C>T (p.Leu81=) c.272-231C>T (n.272-231C>T) c.*285C>T (n.*285C>T) c.376C>T (p.Leu126=) | |
7 | g.151186890G>C | CA370037454 | ASB10 | c.241C>G (p.Leu81Val) c.272-231C>G (n.272-231C>G) c.*285C>G (n.*285C>G) c.376C>G (p.Leu126Val) | |
7 | g.151186890G>T | CA370037455 | ASB10 | c.241C>A (p.Leu81Met) c.272-231C>A (n.272-231C>A) c.*285C>A (n.*285C>A) c.376C>A (p.Leu126Met) | |
7 | g.151186891dup | CA579077263 | ASB10 | c.241dup (p.Leu81ProfsTer4) c.272-231dup (n.272-231dup) c.*285dup (n.*285dup) c.376dup (p.Leu126ProfsTer4) | dbSNP gnomAD v2 |
7 | g.151186891G>A | CA458881489 | ASB10 | c.240C>T (p.Gly80=) c.272-232C>T (n.272-232C>T) c.*284C>T (n.*284C>T) c.375C>T (p.Gly125=) | |
7 | g.151186891G>C | CA458881490 | ASB10 | c.240C>G (p.Gly80=) c.272-232C>G (n.272-232C>G) c.*284C>G (n.*284C>G) c.375C>G (p.Gly125=) | |
7 | g.151186891G>T | CA458881491 | ASB10 | c.240C>A (p.Gly80=) c.272-232C>A (n.272-232C>A) c.*284C>A (n.*284C>A) c.375C>A (p.Gly125=) | |
7 | g.151186892C>A | CA370037456 | ASB10 | c.239G>T (p.Gly80Val) c.272-233G>T (n.272-233G>T) c.*283G>T (n.*283G>T) c.374G>T (p.Gly125Val) | ClinVar gnomAD v4 |
7 | g.151186892C>G | CA370037457 | ASB10 | c.239G>C (p.Gly80Ala) c.272-233G>C (n.272-233G>C) c.*283G>C (n.*283G>C) c.374G>C (p.Gly125Ala) | |
7 | g.151186892C>T | CA370037458 | ASB10 | c.239G>A (p.Gly80Asp) c.272-233G>A (n.272-233G>A) c.*283G>A (n.*283G>A) c.374G>A (p.Gly125Asp) | |
7 | g.151186893C>A | CA370037460 | ASB10 | c.238G>T (p.Gly80Cys) c.272-234G>T (n.272-234G>T) c.*282G>T (n.*282G>T) c.373G>T (p.Gly125Cys) | |
7 | g.151186893C>G | CA370037462 | ASB10 | c.238G>C (p.Gly80Arg) c.272-234G>C (n.272-234G>C) c.*282G>C (n.*282G>C) c.373G>C (p.Gly125Arg) | |
7 | g.151186893C>T | CA370037459 | ASB10 | c.238G>A (p.Gly80Ser) c.272-234G>A (n.272-234G>A) c.*282G>A (n.*282G>A) c.373G>A (p.Gly125Ser) | |
7 | g.151186894A>C | CA458881493 | ASB10 | c.237T>G (p.Thr79=) c.272-235T>G (n.272-235T>G) c.*281T>G (n.*281T>G) c.372T>G (p.Thr124=) | |
7 | g.151186894A>G | CA458881494 | ASB10 | c.237T>C (p.Thr79=) c.272-235T>C (n.272-235T>C) c.*281T>C (n.*281T>C) c.372T>C (p.Thr124=) | |
7 | g.151186894A>T | CA458881495 | ASB10 | c.237T>A (p.Thr79=) c.272-235T>A (n.272-235T>A) c.*281T>A (n.*281T>A) c.372T>A (p.Thr124=) | |
7 | g.151186895G>A | CA370037463 | ASB10 | c.236C>T (p.Thr79Ile) c.272-236C>T (n.272-236C>T) c.*280C>T (n.*280C>T) c.371C>T (p.Thr124Ile) | gnomAD v4 |
7 | g.151186895G>C | CA370037465 | ASB10 | c.236C>G (p.Thr79Ser) c.272-236C>G (n.272-236C>G) c.*280C>G (n.*280C>G) c.371C>G (p.Thr124Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186895G= | CA1752545596 | ASB10 | c.236C= (p.Thr79=) c.272-236C= (n.272-236C=) c.*280C= (n.*280C=) c.371C= (p.Thr124=) | |
7 | g.151186895G>T | CA370037464 | ASB10 | c.236C>A (p.Thr79Asn) c.272-236C>A (n.272-236C>A) c.*280C>A (n.*280C>A) c.371C>A (p.Thr124Asn) | |
7 | g.151186896T>A | CA370037466 | ASB10 | c.235A>T (p.Thr79Ser) c.272-237A>T (n.272-237A>T) c.*279A>T (n.*279A>T) c.370A>T (p.Thr124Ser) | |
7 | g.151186896T>C | CA370037468 | ASB10 | c.235A>G (p.Thr79Ala) c.272-237A>G (n.272-237A>G) c.*279A>G (n.*279A>G) c.370A>G (p.Thr124Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186896T>G | CA370037467 | ASB10 | c.235A>C (p.Thr79Pro) c.272-237A>C (n.272-237A>C) c.*279A>C (n.*279A>C) c.370A>C (p.Thr124Pro) | gnomAD v4 |
7 | g.151186896T= | CA1752545597 | ASB10 | c.235A= (p.Thr79=) c.272-237A= (n.272-237A=) c.*279A= (n.*279A=) c.370A= (p.Thr124=) | |
7 | g.151186897A= | CA1752545598 | ASB10 | c.234T= (p.Ser78=) c.272-238T= (n.272-238T=) c.*278T= (n.*278T=) c.369T= (p.Ser123=) | |
7 | g.151186897A>C | CA370037469 | ASB10 | c.234T>G (p.Ser78Arg) c.272-238T>G (n.272-238T>G) c.*278T>G (n.*278T>G) c.369T>G (p.Ser123Arg) | gnomAD v4 |
7 | g.151186897A>G | CA169125805 | ASB10 | c.234T>C (p.Ser78=) c.272-238T>C (n.272-238T>C) c.*278T>C (n.*278T>C) c.369T>C (p.Ser123=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186897A>T | CA370037470 | ASB10 | c.234T>A (p.Ser78Arg) c.272-238T>A (n.272-238T>A) c.*278T>A (n.*278T>A) c.369T>A (p.Ser123Arg) | |
7 | g.151186898C>A | CA370037471 | ASB10 | c.233G>T (p.Ser78Ile) c.272-239G>T (n.272-239G>T) c.*277G>T (n.*277G>T) c.368G>T (p.Ser123Ile) | |
7 | g.151186898C= | CA1752545599 | ASB10 | c.233G= (p.Ser78=) c.272-239G= (n.272-239G=) c.*277G= (n.*277G=) c.368G= (p.Ser123=) | |
7 | g.151186898C>G | CA370037472 | ASB10 | c.233G>C (p.Ser78Thr) c.272-239G>C (n.272-239G>C) c.*277G>C (n.*277G>C) c.368G>C (p.Ser123Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186898C>T | CA370037473 | ASB10 | c.233G>A (p.Ser78Asn) c.272-239G>A (n.272-239G>A) c.*277G>A (n.*277G>A) c.368G>A (p.Ser123Asn) | gnomAD v4 |
7 | g.151186899T>A | CA370037474 | ASB10 | c.232A>T (p.Ser78Cys) c.272-240A>T (n.272-240A>T) c.*276A>T (n.*276A>T) c.367A>T (p.Ser123Cys) | gnomAD v4 |
7 | g.151186899T>C | CA370037475 | ASB10 | c.232A>G (p.Ser78Gly) c.272-240A>G (n.272-240A>G) c.*276A>G (n.*276A>G) c.367A>G (p.Ser123Gly) | gnomAD v4 |
7 | g.151186899T>G | CA370037476 | ASB10 | c.232A>C (p.Ser78Arg) c.272-240A>C (n.272-240A>C) c.*276A>C (n.*276A>C) c.367A>C (p.Ser123Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186899T= | CA1752545600 | ASB10 | c.232A= (p.Ser78=) c.272-240A= (n.272-240A=) c.*276A= (n.*276A=) c.367A= (p.Ser123=) | |
7 | g.151186900G>A | CA458881498 | ASB10 | c.231C>T (p.Ser77=) c.272-241C>T (n.272-241C>T) c.*275C>T (n.*275C>T) c.366C>T (p.Ser122=) | dbSNP |
7 | g.151186900G>C | CA458881499 | ASB10 | c.231C>G (p.Ser77=) c.272-241C>G (n.272-241C>G) c.*275C>G (n.*275C>G) c.366C>G (p.Ser122=) | |
7 | g.151186900G= | CA1752545601 | ASB10 | c.231C= (p.Ser77=) c.272-241C= (n.272-241C=) c.*275C= (n.*275C=) c.366C= (p.Ser122=) | |
7 | g.151186900G>T | CA458881502 | ASB10 | c.231C>A (p.Ser77=) c.272-241C>A (n.272-241C>A) c.*275C>A (n.*275C>A) c.366C>A (p.Ser122=) | |
7 | g.151186901G>A | CA370037477 | ASB10 | c.230C>T (p.Ser77Phe) c.272-242C>T (n.272-242C>T) c.*274C>T (n.*274C>T) c.365C>T (p.Ser122Phe) | dbSNP gnomAD v2 |
7 | g.151186901G>C | CA370037478 | ASB10 | c.230C>G (p.Ser77Cys) c.272-242C>G (n.272-242C>G) c.*274C>G (n.*274C>G) c.365C>G (p.Ser122Cys) | dbSNP |
7 | g.151186901G= | CA1752545602 | ASB10 | c.230C= (p.Ser77=) c.272-242C= (n.272-242C=) c.*274C= (n.*274C=) c.365C= (p.Ser122=) | |
7 | g.151186901G>T | CA370037479 | ASB10 | c.230C>A (p.Ser77Tyr) c.272-242C>A (n.272-242C>A) c.*274C>A (n.*274C>A) c.365C>A (p.Ser122Tyr) | |
7 | g.151186902A>C | CA370037480 | ASB10 | c.229T>G (p.Ser77Ala) c.272-243T>G (n.272-243T>G) c.*273T>G (n.*273T>G) c.364T>G (p.Ser122Ala) | |
7 | g.151186902A>G | CA370037481 | ASB10 | c.229T>C (p.Ser77Pro) c.272-243T>C (n.272-243T>C) c.*273T>C (n.*273T>C) c.364T>C (p.Ser122Pro) | dbSNP |
7 | g.151186902A>T | CA370037482 | ASB10 | c.229T>A (p.Ser77Thr) c.272-243T>A (n.272-243T>A) c.*273T>A (n.*273T>A) c.364T>A (p.Ser122Thr) | |
7 | g.151186903G>A | CA458881504 | ASB10 | c.228C>T (p.Asp76=) c.272-244C>T (n.272-244C>T) c.*272C>T (n.*272C>T) c.363C>T (p.Asp121=) | |
7 | g.151186903G>C | CA370037484 | ASB10 | c.228C>G (p.Asp76Glu) c.272-244C>G (n.272-244C>G) c.*272C>G (n.*272C>G) c.363C>G (p.Asp121Glu) | |
7 | g.151186903G>T | CA370037483 | ASB10 | c.228C>A (p.Asp76Glu) c.272-244C>A (n.272-244C>A) c.*272C>A (n.*272C>A) c.363C>A (p.Asp121Glu) | |
7 | g.151186904T>A | CA370037485 | ASB10 | c.227A>T (p.Asp76Val) c.272-245A>T (n.272-245A>T) c.*271A>T (n.*271A>T) c.362A>T (p.Asp121Val) | |
7 | g.151186904T>C | CA370037486 | ASB10 | c.227A>G (p.Asp76Gly) c.272-245A>G (n.272-245A>G) c.*271A>G (n.*271A>G) c.362A>G (p.Asp121Gly) | |
7 | g.151186904T>G | CA370037487 | ASB10 | c.227A>C (p.Asp76Ala) c.272-245A>C (n.272-245A>C) c.*271A>C (n.*271A>C) c.362A>C (p.Asp121Ala) | |
7 | g.151186905C>A | CA370037488 | ASB10 | c.226G>T (p.Asp76Tyr) c.272-246G>T (n.272-246G>T) c.*270G>T (n.*270G>T) c.361G>T (p.Asp121Tyr) | |
7 | g.151186905C>G | CA370037490 | ASB10 | c.226G>C (p.Asp76His) c.272-246G>C (n.272-246G>C) c.*270G>C (n.*270G>C) c.361G>C (p.Asp121His) | |
7 | g.151186905C>T | CA370037491 | ASB10 | c.226G>A (p.Asp76Asn) c.272-246G>A (n.272-246G>A) c.*270G>A (n.*270G>A) c.361G>A (p.Asp121Asn) | gnomAD v4 |
7 | g.151186905_151186906delinsTT | CA645550293 | ASB10 | c.225_226delinsAA (p.Asp76Asn) c.272-247_272-246delinsAA (n.272-247_272-246delinsAA) c.*269_*270delinsAA (n.*269_*270delinsAA) c.360_361delinsAA (p.Asp121Asn) | COSMIC COSMIC COSMIC |
7 | g.151186906C>A | CA458881506 | ASB10 | c.225G>T (p.Ala75=) c.272-247G>T (n.272-247G>T) c.*269G>T (n.*269G>T) c.360G>T (p.Ala120=) | |
7 | g.151186906C= | CA1752545603 | ASB10 | c.225G= (p.Ala75=) c.272-247G= (n.272-247G=) c.*269G= (n.*269G=) c.360G= (p.Ala120=) | |
7 | g.151186906C>G | CA458881507 | ASB10 | c.225G>C (p.Ala75=) c.272-247G>C (n.272-247G>C) c.*269G>C (n.*269G>C) c.360G>C (p.Ala120=) | gnomAD v4 |
7 | g.151186906C>T | CA150526 | ASB10 | c.225G>A (p.Ala75=) c.272-247G>A (n.272-247G>A) c.*269G>A (n.*269G>A) c.360G>A (p.Ala120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186907G>A | CA4573958 | ASB10 | c.224C>T (p.Ala75Val) c.272-248C>T (n.272-248C>T) c.*268C>T (n.*268C>T) c.359C>T (p.Ala120Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186907G>C | CA169125821 | ASB10 | c.224C>G (p.Ala75Gly) c.272-248C>G (n.272-248C>G) c.*268C>G (n.*268C>G) c.359C>G (p.Ala120Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186907G= | CA1752545604 | ASB10 | c.224C= (p.Ala75=) c.272-248C= (n.272-248C=) c.*268C= (n.*268C=) c.359C= (p.Ala120=) | |
7 | g.151186907G>T | CA150466 | ASB10 | c.224C>A (p.Ala75Glu) c.272-248C>A (n.272-248C>A) c.*268C>A (n.*268C>A) c.359C>A (p.Ala120Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186910_151186917dup | CA4573957 | ASB10 | c.217_224dup (p.Asp76SerfsTer?) c.272-255_272-248dup (n.272-255_272-248dup) c.*261_*268dup (n.*261_*268dup) c.352_359dup (p.Asp121SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186908C>A | CA370037501 | ASB10 | c.223G>T (p.Ala75Ser) c.272-249G>T (n.272-249G>T) c.*267G>T (n.*267G>T) c.358G>T (p.Ala120Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186908C= | CA1752545606 | ASB10 | c.223G= (p.Ala75=) c.272-249G= (n.272-249G=) c.*267G= (n.*267G=) c.358G= (p.Ala120=) | |
7 | g.151186908C>G | CA370037499 | ASB10 | c.223G>C (p.Ala75Pro) c.272-249G>C (n.272-249G>C) c.*267G>C (n.*267G>C) c.358G>C (p.Ala120Pro) | |
7 | g.151186908C>T | CA4573959 | ASB10 | c.223G>A (p.Ala75Thr) c.272-249G>A (n.272-249G>A) c.*267G>A (n.*267G>A) c.358G>A (p.Ala120Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186909G>A | CA4573960 | ASB10 | c.222C>T (p.Leu74=) c.272-250C>T (n.272-250C>T) c.*266C>T (n.*266C>T) c.357C>T (p.Leu119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186909G>C | CA458881509 | ASB10 | c.222C>G (p.Leu74=) c.272-250C>G (n.272-250C>G) c.*266C>G (n.*266C>G) c.357C>G (p.Leu119=) | gnomAD v4 |
7 | g.151186909G= | CA1752545608 | ASB10 | c.222C= (p.Leu74=) c.272-250C= (n.272-250C=) c.*266C= (n.*266C=) c.357C= (p.Leu119=) | |
7 | g.151186909G>T | CA458881510 | ASB10 | c.222C>A (p.Leu74=) c.272-250C>A (n.272-250C>A) c.*266C>A (n.*266C>A) c.357C>A (p.Leu119=) | |
7 | g.151186910A>C | CA370037504 | ASB10 | c.221T>G (p.Leu74Arg) c.272-251T>G (n.272-251T>G) c.*265T>G (n.*265T>G) c.356T>G (p.Leu119Arg) | |
7 | g.151186910A>G | CA370037505 | ASB10 | c.221T>C (p.Leu74Pro) c.272-251T>C (n.272-251T>C) c.*265T>C (n.*265T>C) c.356T>C (p.Leu119Pro) | |
7 | g.151186910A>T | CA370037506 | ASB10 | c.221T>A (p.Leu74His) c.272-251T>A (n.272-251T>A) c.*265T>A (n.*265T>A) c.356T>A (p.Leu119His) | COSMIC COSMIC COSMIC |
7 | g.151186911G>A | CA4573961 | ASB10 | c.220C>T (p.Leu74Phe) c.272-252C>T (n.272-252C>T) c.*264C>T (n.*264C>T) c.355C>T (p.Leu119Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186911G>C | CA370037508 | ASB10 | c.220C>G (p.Leu74Val) c.272-252C>G (n.272-252C>G) c.*264C>G (n.*264C>G) c.355C>G (p.Leu119Val) | |
7 | g.151186911G= | CA1752545611 | ASB10 | c.220C= (p.Leu74=) c.272-252C= (n.272-252C=) c.*264C= (n.*264C=) c.355C= (p.Leu119=) | |
7 | g.151186911G>T | CA370037511 | ASB10 | c.220C>A (p.Leu74Ile) c.272-252C>A (n.272-252C>A) c.*264C>A (n.*264C>A) c.355C>A (p.Leu119Ile) | |
7 | g.151186912G>A | CA458881513 | ASB10 | c.219C>T (p.Ile73=) c.272-253C>T (n.272-253C>T) c.*263C>T (n.*263C>T) c.354C>T (p.Ile118=) | |
7 | g.151186912G>C | CA370037512 | ASB10 | c.219C>G (p.Ile73Met) c.272-253C>G (n.272-253C>G) c.*263C>G (n.*263C>G) c.354C>G (p.Ile118Met) | |
7 | g.151186912G>T | CA458881514 | ASB10 | c.219C>A (p.Ile73=) c.272-253C>A (n.272-253C>A) c.*263C>A (n.*263C>A) c.354C>A (p.Ile118=) | |
7 | g.151186913A>C | CA370037514 | ASB10 | c.218T>G (p.Ile73Ser) c.272-254T>G (n.272-254T>G) c.*262T>G (n.*262T>G) c.353T>G (p.Ile118Ser) | |
7 | g.151186913A>G | CA370037515 | ASB10 | c.218T>C (p.Ile73Thr) c.272-254T>C (n.272-254T>C) c.*262T>C (n.*262T>C) c.353T>C (p.Ile118Thr) | gnomAD v4 |
7 | g.151186913A>T | CA370037516 | ASB10 | c.218T>A (p.Ile73Asn) c.272-254T>A (n.272-254T>A) c.*262T>A (n.*262T>A) c.353T>A (p.Ile118Asn) | gnomAD v4 |
7 | g.151186913_151186914insCG | CA2840051218 | ASB10 | c.217_218insCG (p.Ile73ThrfsTer?) c.272-255_272-254insCG (n.272-255_272-254insCG) c.*261_*262insCG (n.*261_*262insCG) c.352_353insCG (p.Ile118ThrfsTer?) | |
7 | g.151186914T>A | CA370037521 | ASB10 | c.217A>T (p.Ile73Phe) c.272-255A>T (n.272-255A>T) c.*261A>T (n.*261A>T) c.352A>T (p.Ile118Phe) | |
7 | g.151186914T>C | CA370037519 | ASB10 | c.217A>G (p.Ile73Val) c.272-255A>G (n.272-255A>G) c.*261A>G (n.*261A>G) c.352A>G (p.Ile118Val) | gnomAD v4 |
7 | g.151186914T>G | CA4573962 | ASB10 | c.217A>C (p.Ile73Leu) c.272-255A>C (n.272-255A>C) c.*261A>C (n.*261A>C) c.352A>C (p.Ile118Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186914T= | CA1752545614 | ASB10 | c.217A= (p.Ile73=) c.272-255A= (n.272-255A=) c.*261A= (n.*261A=) c.352A= (p.Ile118=) | |
7 | g.151186915G>A | CA4573963 | ASB10 | c.216C>T (p.Arg72=) c.272-256C>T (n.272-256C>T) c.*260C>T (n.*260C>T) c.351C>T (p.Arg117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186915G>C | CA458881516 | ASB10 | c.216C>G (p.Arg72=) c.272-256C>G (n.272-256C>G) c.*260C>G (n.*260C>G) c.351C>G (p.Arg117=) | |
7 | g.151186915G= | CA1752545616 | ASB10 | c.216C= (p.Arg72=) c.272-256C= (n.272-256C=) c.*260C= (n.*260C=) c.351C= (p.Arg117=) | |
7 | g.151186915G>T | CA458881517 | ASB10 | c.216C>A (p.Arg72=) c.272-256C>A (n.272-256C>A) c.*260C>A (n.*260C>A) c.351C>A (p.Arg117=) | gnomAD v4 |
7 | g.151186915_151186916insGGCTGTGTCTCCCGCATCCTCG | CA2839999849 | ASB10 | c.216_217insGAGGATGCGGGAGACACAGCCC (p.Ile73GlufsTer19) c.272-256_272-255insGAGGATGCGGGAGACACAGCCC (n.272-256_272-255insGAGGATGCGGGAGACACAGCCC) c.*260_*261insGAGGATGCGGGAGACACAGCCC (n.*260_*261insGAGGATGCGGGAGACACAGCCC) c.351_352insGAGGATGCGGGAGACACAGCCC (p.Ile118GlufsTer19) | |
7 | g.151186916C>A | CA370037522 | ASB10 | c.215G>T (p.Arg72Leu) c.272-257G>T (n.272-257G>T) c.*259G>T (n.*259G>T) c.350G>T (p.Arg117Leu) | gnomAD v4 |
7 | g.151186916C= | CA1752545618 | ASB10 | c.215G= (p.Arg72=) c.272-257G= (n.272-257G=) c.*259G= (n.*259G=) c.350G= (p.Arg117=) | |
7 | g.151186916C>G | CA370037523 | ASB10 | c.215G>C (p.Arg72Pro) c.272-257G>C (n.272-257G>C) c.*259G>C (n.*259G>C) c.350G>C (p.Arg117Pro) | gnomAD v4 |
7 | g.151186916C>T | CA143901 | ASB10 | c.215G>A (p.Arg72His) c.272-257G>A (n.272-257G>A) c.*259G>A (n.*259G>A) c.350G>A (p.Arg117His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186917G>A | CA4573964 | ASB10 | c.214C>T (p.Arg72Cys) c.272-258C>T (n.272-258C>T) c.*258C>T (n.*258C>T) c.349C>T (p.Arg117Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186917G>C | CA4573965 | ASB10 | c.214C>G (p.Arg72Gly) c.272-258C>G (n.272-258C>G) c.*258C>G (n.*258C>G) c.349C>G (p.Arg117Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186917G= | CA1752545623 | ASB10 | c.214C= (p.Arg72=) c.272-258C= (n.272-258C=) c.*258C= (n.*258C=) c.349C= (p.Arg117=) | |
7 | g.151186917G>T | CA370037525 | ASB10 | c.214C>A (p.Arg72Ser) c.272-258C>A (n.272-258C>A) c.*258C>A (n.*258C>A) c.349C>A (p.Arg117Ser) | |
7 | g.151186919del | CA2685657627 | ASB10 | c.214del (p.Arg72AlafsTer?) c.272-258del (n.272-258del) c.*258del (n.*258del) c.349del (p.Arg117AlafsTer?) | gnomAD v4 |
7 | g.151186918G>A | CA458881519 | ASB10 | c.213C>T (p.Ser71=) c.272-259C>T (n.272-259C>T) c.*257C>T (n.*257C>T) c.348C>T (p.Ser116=) | |
7 | g.151186918G>C | CA458881521 | ASB10 | c.213C>G (p.Ser71=) c.272-259C>G (n.272-259C>G) c.*257C>G (n.*257C>G) c.348C>G (p.Ser116=) | |
7 | g.151186918G>T | CA458881520 | ASB10 | c.213C>A (p.Ser71=) c.272-259C>A (n.272-259C>A) c.*257C>A (n.*257C>A) c.348C>A (p.Ser116=) | |
7 | g.151186919G>A | CA370037527 | ASB10 | c.212C>T (p.Ser71Phe) c.272-260C>T (n.272-260C>T) c.*256C>T (n.*256C>T) c.347C>T (p.Ser116Phe) | |
7 | g.151186919G>C | CA370037528 | ASB10 | c.212C>G (p.Ser71Cys) c.272-260C>G (n.272-260C>G) c.*256C>G (n.*256C>G) c.347C>G (p.Ser116Cys) | gnomAD v4 |
7 | g.151186919G>T | CA370037530 | ASB10 | c.212C>A (p.Ser71Tyr) c.272-260C>A (n.272-260C>A) c.*256C>A (n.*256C>A) c.347C>A (p.Ser116Tyr) | |
7 | g.151186920A>C | CA370037531 | ASB10 | c.211T>G (p.Ser71Ala) c.272-261T>G (n.272-261T>G) c.*255T>G (n.*255T>G) c.346T>G (p.Ser116Ala) | |
7 | g.151186920A>G | CA370037533 | ASB10 | c.211T>C (p.Ser71Pro) c.272-261T>C (n.272-261T>C) c.*255T>C (n.*255T>C) c.346T>C (p.Ser116Pro) | |
7 | g.151186920A>T | CA370037534 | ASB10 | c.211T>A (p.Ser71Thr) c.272-261T>A (n.272-261T>A) c.*255T>A (n.*255T>A) c.346T>A (p.Ser116Thr) | |
7 | g.151186921G>A | CA458881525 | ASB10 | c.210C>T (p.Val70=) c.272-262C>T (n.272-262C>T) c.*254C>T (n.*254C>T) c.345C>T (p.Val115=) | |
7 | g.151186921G>C | CA458881526 | ASB10 | c.210C>G (p.Val70=) c.272-262C>G (n.272-262C>G) c.*254C>G (n.*254C>G) c.345C>G (p.Val115=) | |
7 | g.151186921G= | CA1752545628 | ASB10 | c.210C= (p.Val70=) c.272-262C= (n.272-262C=) c.*254C= (n.*254C=) c.345C= (p.Val115=) | |
7 | g.151186921G>T | CA4573966 | ASB10 | c.210C>A (p.Val70=) c.272-262C>A (n.272-262C>A) c.*254C>A (n.*254C>A) c.345C>A (p.Val115=) | dbSNP ExAC gnomAD v2 |
7 | g.151186922A>C | CA370037536 | ASB10 | c.209T>G (p.Val70Gly) c.272-263T>G (n.272-263T>G) c.*253T>G (n.*253T>G) c.344T>G (p.Val115Gly) | |
7 | g.151186922A>G | CA370037535 | ASB10 | c.209T>C (p.Val70Ala) c.272-263T>C (n.272-263T>C) c.*253T>C (n.*253T>C) c.344T>C (p.Val115Ala) | |
7 | g.151186922A>T | CA370037538 | ASB10 | c.209T>A (p.Val70Asp) c.272-263T>A (n.272-263T>A) c.*253T>A (n.*253T>A) c.344T>A (p.Val115Asp) | |
7 | g.151186925_151186926del | CA458881528 | ASB10 | c.208_209del (p.Val70LeufsTer14) c.272-264_272-263del (n.272-264_272-263del) c.*252_*253del (n.*252_*253del) c.343_344del (p.Val115LeufsTer14) | |
7 | g.151186923C>A | CA370037540 | ASB10 | c.208G>T (p.Val70Phe) c.272-264G>T (n.272-264G>T) c.*252G>T (n.*252G>T) c.343G>T (p.Val115Phe) | |
7 | g.151186923C>G | CA370037541 | ASB10 | c.208G>C (p.Val70Leu) c.272-264G>C (n.272-264G>C) c.*252G>C (n.*252G>C) c.343G>C (p.Val115Leu) | |
7 | g.151186923C>T | CA370037542 | ASB10 | c.208G>A (p.Val70Ile) c.272-264G>A (n.272-264G>A) c.*252G>A (n.*252G>A) c.343G>A (p.Val115Ile) | gnomAD v4 |
7 | g.151186924A= | CA1752545631 | ASB10 | c.207T= (p.Cys69=) c.272-265T= (n.272-265T=) c.*251T= (n.*251T=) c.342T= (p.Cys114=) | |
7 | g.151186924A>C | CA370037543 | ASB10 | c.207T>G (p.Cys69Trp) c.272-265T>G (n.272-265T>G) c.*251T>G (n.*251T>G) c.342T>G (p.Cys114Trp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186924A>G | CA458881531 | ASB10 | c.207T>C (p.Cys69=) c.272-265T>C (n.272-265T>C) c.*251T>C (n.*251T>C) c.342T>C (p.Cys114=) | |
7 | g.151186924A>T | CA370037544 | ASB10 | c.207T>A (p.Cys69Ter) c.272-265T>A (n.272-265T>A) c.*251T>A (n.*251T>A) c.342T>A (p.Cys114Ter) | |
7 | g.151186925C>A | CA370037546 | ASB10 | c.206G>T (p.Cys69Phe) c.272-266G>T (n.272-266G>T) c.*250G>T (n.*250G>T) c.341G>T (p.Cys114Phe) | |
7 | g.151186925C= | CA1752545633 | ASB10 | c.206G= (p.Cys69=) c.272-266G= (n.272-266G=) c.*250G= (n.*250G=) c.341G= (p.Cys114=) | |
7 | g.151186925C>G | CA370037548 | ASB10 | c.206G>C (p.Cys69Ser) c.272-266G>C (n.272-266G>C) c.*250G>C (n.*250G>C) c.341G>C (p.Cys114Ser) | |
7 | g.151186925C>T | CA370037549 | ASB10 | c.206G>A (p.Cys69Tyr) c.272-266G>A (n.272-266G>A) c.*250G>A (n.*250G>A) c.341G>A (p.Cys114Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186926A= | CA1752545636 | ASB10 | c.205T= (p.Cys69=) c.272-267T= (n.272-267T=) c.*249T= (n.*249T=) c.340T= (p.Cys114=) | |
7 | g.151186926A>C | CA370037550 | ASB10 | c.205T>G (p.Cys69Gly) c.272-267T>G (n.272-267T>G) c.*249T>G (n.*249T>G) c.340T>G (p.Cys114Gly) | |
7 | g.151186926A>G | CA370037552 | ASB10 | c.205T>C (p.Cys69Arg) c.272-267T>C (n.272-267T>C) c.*249T>C (n.*249T>C) c.340T>C (p.Cys114Arg) | |
7 | g.151186926A>T | CA370037553 | ASB10 | c.205T>A (p.Cys69Ser) c.272-267T>A (n.272-267T>A) c.*249T>A (n.*249T>A) c.340T>A (p.Cys114Ser) | |
7 | g.151186927G>A | CA458881535 | ASB10 | c.204C>T (p.Gly68=) c.272-268C>T (n.272-268C>T) c.*248C>T (n.*248C>T) c.339C>T (p.Gly113=) | gnomAD v4 |
7 | g.151186927G>C | CA150524 | ASB10 | c.204C>G (p.Gly68=) c.272-268C>G (n.272-268C>G) c.*248C>G (n.*248C>G) c.339C>G (p.Gly113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186927G= | CA1752545643 | ASB10 | c.204C= (p.Gly68=) c.272-268C= (n.272-268C=) c.*248C= (n.*248C=) c.339C= (p.Gly113=) | |
7 | g.151186927G>T | CA458881536 | ASB10 | c.204C>A (p.Gly68=) c.272-268C>A (n.272-268C>A) c.*248C>A (n.*248C>A) c.339C>A (p.Gly113=) | gnomAD v3 gnomAD v4 |
7 | g.151186927_151186928insGG | CA169125877 | ASB10 | c.204_205insCC (p.Cys69ProfsTer?) c.272-268_272-267insCC (n.272-268_272-267insCC) c.*248_*249insCC (n.*248_*249insCC) c.339_340insCC (p.Cys114ProfsTer?) | dbSNP |
7 | g.151186928C>A | CA370037557 | ASB10 | c.203G>T (p.Gly68Val) c.272-269G>T (n.272-269G>T) c.*247G>T (n.*247G>T) c.338G>T (p.Gly113Val) | |
7 | g.151186928C= | CA1752545653 | ASB10 | c.203G= (p.Gly68=) c.272-269G= (n.272-269G=) c.*247G= (n.*247G=) c.338G= (p.Gly113=) | |
7 | g.151186928C>G | CA4573967 | ASB10 | c.203G>C (p.Gly68Ala) c.272-269G>C (n.272-269G>C) c.*247G>C (n.*247G>C) c.338G>C (p.Gly113Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186928C>T | CA370037556 | ASB10 | c.203G>A (p.Gly68Asp) c.272-269G>A (n.272-269G>A) c.*247G>A (n.*247G>A) c.338G>A (p.Gly113Asp) | |
7 | g.151186929C>A | CA370037559 | ASB10 | c.202G>T (p.Gly68Cys) c.272-270G>T (n.272-270G>T) c.*246G>T (n.*246G>T) c.337G>T (p.Gly113Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186929C= | CA1752545660 | ASB10 | c.202G= (p.Gly68=) c.272-270G= (n.272-270G=) c.*246G= (n.*246G=) c.337G= (p.Gly113=) | |
7 | g.151186929C>G | CA370037561 | ASB10 | c.202G>C (p.Gly68Arg) c.272-270G>C (n.272-270G>C) c.*246G>C (n.*246G>C) c.337G>C (p.Gly113Arg) | |
7 | g.151186929C>T | CA370037562 | ASB10 | c.202G>A (p.Gly68Ser) c.272-270G>A (n.272-270G>A) c.*246G>A (n.*246G>A) c.337G>A (p.Gly113Ser) | |
7 | g.151186930C>A | CA458881609 | ASB10 | c.201G>T (p.Val67=) c.272-271G>T (n.272-271G>T) c.*245G>T (n.*245G>T) c.336G>T (p.Val112=) | dbSNP gnomAD v2 |
7 | g.151186930C= | CA1752545664 | ASB10 | c.201G= (p.Val67=) c.272-271G= (n.272-271G=) c.*245G= (n.*245G=) c.336G= (p.Val112=) | |
7 | g.151186930C>G | CA458881610 | ASB10 | c.201G>C (p.Val67=) c.272-271G>C (n.272-271G>C) c.*245G>C (n.*245G>C) c.336G>C (p.Val112=) | |
7 | g.151186930C>T | CA458881611 | ASB10 | c.201G>A (p.Val67=) c.272-271G>A (n.272-271G>A) c.*245G>A (n.*245G>A) c.336G>A (p.Val112=) | |
7 | g.151186931A= | CA1752545667 | ASB10 | c.200T= (p.Val67=) c.272-272T= (n.272-272T=) c.*244T= (n.*244T=) c.335T= (p.Val112=) | |
7 | g.151186931A>C | CA169125891 | ASB10 | c.200T>G (p.Val67Gly) c.272-272T>G (n.272-272T>G) c.*244T>G (n.*244T>G) c.335T>G (p.Val112Gly) | dbSNP gnomAD v4 |
7 | g.151186931A>G | CA370037564 | ASB10 | c.200T>C (p.Val67Ala) c.272-272T>C (n.272-272T>C) c.*244T>C (n.*244T>C) c.335T>C (p.Val112Ala) | |
7 | g.151186931A>T | CA370037565 | ASB10 | c.200T>A (p.Val67Glu) c.272-272T>A (n.272-272T>A) c.*244T>A (n.*244T>A) c.335T>A (p.Val112Glu) | dbSNP |
7 | g.151186932C>A | CA370037567 | ASB10 | c.199G>T (p.Val67Leu) c.272-273G>T (n.272-273G>T) c.*243G>T (n.*243G>T) c.334G>T (p.Val112Leu) | |
7 | g.151186932C= | CA1752545672 | ASB10 | c.199G= (p.Val67=) c.272-273G= (n.272-273G=) c.*243G= (n.*243G=) c.334G= (p.Val112=) | |
7 | g.151186932C>G | CA169125901 | ASB10 | c.199G>C (p.Val67Leu) c.272-273G>C (n.272-273G>C) c.*243G>C (n.*243G>C) c.334G>C (p.Val112Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151186932C>T | CA150522 | ASB10 | c.199G>A (p.Val67Met) c.272-273G>A (n.272-273G>A) c.*243G>A (n.*243G>A) c.334G>A (p.Val112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.151186933G>A | CA458881614 | ASB10 | c.198C>T (p.Asp66=) c.272-274C>T (n.272-274C>T) c.*242C>T (n.*242C>T) c.333C>T (p.Asp111=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186933G>C | CA370037570 | ASB10 | c.198C>G (p.Asp66Glu) c.272-274C>G (n.272-274C>G) c.*242C>G (n.*242C>G) c.333C>G (p.Asp111Glu) | |
7 | g.151186933G= | CA1752545678 | ASB10 | c.198C= (p.Asp66=) c.272-274C= (n.272-274C=) c.*242C= (n.*242C=) c.333C= (p.Asp111=) | |
7 | g.151186933G>T | CA370037572 | ASB10 | c.198C>A (p.Asp66Glu) c.272-274C>A (n.272-274C>A) c.*242C>A (n.*242C>A) c.333C>A (p.Asp111Glu) | |
7 | g.151186934T>A | CA370037576 | ASB10 | c.197A>T (p.Asp66Val) c.272-275A>T (n.272-275A>T) c.*241A>T (n.*241A>T) c.332A>T (p.Asp111Val) | |
7 | g.151186934T>C | CA370037574 | ASB10 | c.197A>G (p.Asp66Gly) c.272-275A>G (n.272-275A>G) c.*241A>G (n.*241A>G) c.332A>G (p.Asp111Gly) | dbSNP gnomAD v4 |
7 | g.151186934T>G | CA370037573 | ASB10 | c.197A>C (p.Asp66Ala) c.272-275A>C (n.272-275A>C) c.*241A>C (n.*241A>C) c.332A>C (p.Asp111Ala) | |
7 | g.151186934T= | CA1752545681 | ASB10 | c.197A= (p.Asp66=) c.272-275A= (n.272-275A=) c.*241A= (n.*241A=) c.332A= (p.Asp111=) | |
7 | g.151186935C>A | CA370037577 | ASB10 | c.196G>T (p.Asp66Tyr) c.272-276G>T (n.272-276G>T) c.*240G>T (n.*240G>T) c.331G>T (p.Asp111Tyr) | |
7 | g.151186935C>G | CA370037579 | ASB10 | c.196G>C (p.Asp66His) c.272-276G>C (n.272-276G>C) c.*240G>C (n.*240G>C) c.331G>C (p.Asp111His) | |
7 | g.151186935C>T | CA370037580 | ASB10 | c.196G>A (p.Asp66Asn) c.272-276G>A (n.272-276G>A) c.*240G>A (n.*240G>A) c.331G>A (p.Asp111Asn) | |
7 | g.151186938dup | CA2840459452 | ASB10 | c.196dup (p.Asp66GlyfsTer19) c.272-276dup (n.272-276dup) c.*240dup (n.*240dup) c.331dup (p.Asp111GlyfsTer19) | |
7 | g.151186936C>A | CA458881619 | ASB10 | c.195G>T (p.Gly65=) c.272-277G>T (n.272-277G>T) c.*239G>T (n.*239G>T) c.330G>T (p.Gly110=) | |
7 | g.151186936C= | CA1752545686 | ASB10 | c.195G= (p.Gly65=) c.272-277G= (n.272-277G=) c.*239G= (n.*239G=) c.330G= (p.Gly110=) | |
7 | g.151186936C>G | CA458881620 | ASB10 | c.195G>C (p.Gly65=) c.272-277G>C (n.272-277G>C) c.*239G>C (n.*239G>C) c.330G>C (p.Gly110=) | |
7 | g.151186936C>T | CA4573968 | ASB10 | c.195G>A (p.Gly65=) c.272-277G>A (n.272-277G>A) c.*239G>A (n.*239G>A) c.330G>A (p.Gly110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186937C>A | CA370037583 | ASB10 | c.194G>T (p.Gly65Val) c.272-278G>T (n.272-278G>T) c.*238G>T (n.*238G>T) c.329G>T (p.Gly110Val) | |
7 | g.151186937C= | CA1752545691 | ASB10 | c.194G= (p.Gly65=) c.272-278G= (n.272-278G=) c.*238G= (n.*238G=) c.329G= (p.Gly110=) | |
7 | g.151186937C>G | CA370037584 | ASB10 | c.194G>C (p.Gly65Ala) c.272-278G>C (n.272-278G>C) c.*238G>C (n.*238G>C) c.329G>C (p.Gly110Ala) | gnomAD v4 |
7 | g.151186937C>T | CA228061 | ASB10 | c.194G>A (p.Gly65Glu) c.272-278G>A (n.272-278G>A) c.*238G>A (n.*238G>A) c.329G>A (p.Gly110Glu) | ClinVar dbSNP |
7 | g.151186938C>A | CA370037586 | ASB10 | c.193G>T (p.Gly65Trp) c.272-279G>T (n.272-279G>T) c.*237G>T (n.*237G>T) c.328G>T (p.Gly110Trp) | |
7 | g.151186938C= | CA1752545695 | ASB10 | c.193G= (p.Gly65=) c.272-279G= (n.272-279G=) c.*237G= (n.*237G=) c.328G= (p.Gly110=) | |
7 | g.151186938C>G | CA370037588 | ASB10 | c.193G>C (p.Gly65Arg) c.272-279G>C (n.272-279G>C) c.*237G>C (n.*237G>C) c.328G>C (p.Gly110Arg) | |
7 | g.151186938C>T | CA370037590 | ASB10 | c.193G>A (p.Gly65Arg) c.272-279G>A (n.272-279G>A) c.*237G>A (n.*237G>A) c.328G>A (p.Gly110Arg) | dbSNP |
7 | g.151186939A= | CA1752545699 | ASB10 | c.192T= (p.Ala64=) c.272-280T= (n.272-280T=) c.*236T= (n.*236T=) c.327T= (p.Ala109=) | |
7 | g.151186939A>C | CA169125923 | ASB10 | c.192T>G (p.Ala64=) c.272-280T>G (n.272-280T>G) c.*236T>G (n.*236T>G) c.327T>G (p.Ala109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186939A>G | CA458881626 | ASB10 | c.192T>C (p.Ala64=) c.272-280T>C (n.272-280T>C) c.*236T>C (n.*236T>C) c.327T>C (p.Ala109=) | |
7 | g.151186939A>T | CA458881625 | ASB10 | c.192T>A (p.Ala64=) c.272-280T>A (n.272-280T>A) c.*236T>A (n.*236T>A) c.327T>A (p.Ala109=) | |
7 | g.151186940G>A | CA370037591 | ASB10 | c.191C>T (p.Ala64Val) c.272-281C>T (n.272-281C>T) c.*235C>T (n.*235C>T) c.326C>T (p.Ala109Val) | |
7 | g.151186940G>C | CA4573969 | ASB10 | c.191C>G (p.Ala64Gly) c.272-281C>G (n.272-281C>G) c.*235C>G (n.*235C>G) c.326C>G (p.Ala109Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186940G= | CA1752545703 | ASB10 | c.191C= (p.Ala64=) c.272-281C= (n.272-281C=) c.*235C= (n.*235C=) c.326C= (p.Ala109=) | |
7 | g.151186940G>T | CA370037593 | ASB10 | c.191C>A (p.Ala64Asp) c.272-281C>A (n.272-281C>A) c.*235C>A (n.*235C>A) c.326C>A (p.Ala109Asp) | |
7 | g.151186941C>A | CA370037594 | ASB10 | c.190G>T (p.Ala64Ser) c.272-282G>T (n.272-282G>T) c.*234G>T (n.*234G>T) c.325G>T (p.Ala109Ser) | gnomAD v4 |
7 | g.151186941C= | CA1752545706 | ASB10 | c.190G= (p.Ala64=) c.272-282G= (n.272-282G=) c.*234G= (n.*234G=) c.325G= (p.Ala109=) | |
7 | g.151186941C>G | CA370037597 | ASB10 | c.190G>C (p.Ala64Pro) c.272-282G>C (n.272-282G>C) c.*234G>C (n.*234G>C) c.325G>C (p.Ala109Pro) | |
7 | g.151186941C>T | CA370037596 | ASB10 | c.190G>A (p.Ala64Thr) c.272-282G>A (n.272-282G>A) c.*234G>A (n.*234G>A) c.325G>A (p.Ala109Thr) | dbSNP gnomAD v2 |
7 | g.151186942dup | CA2838489310 | ASB10 | c.190dup (p.Ala64GlyfsTer21) c.272-282dup (n.272-282dup) c.*234dup (n.*234dup) c.325dup (p.Ala109GlyfsTer21) | |
7 | g.151186942C>A | CA458881630 | ASB10 | c.189G>T (p.Leu63=) c.272-283G>T (n.272-283G>T) c.*233G>T (n.*233G>T) c.324G>T (p.Leu108=) | |
7 | g.151186942C>G | CA458881632 | ASB10 | c.189G>C (p.Leu63=) c.272-283G>C (n.272-283G>C) c.*233G>C (n.*233G>C) c.324G>C (p.Leu108=) | |
7 | g.151186942C>T | CA458881633 | ASB10 | c.189G>A (p.Leu63=) c.272-283G>A (n.272-283G>A) c.*233G>A (n.*233G>A) c.324G>A (p.Leu108=) | |
7 | g.151186943A>C | CA370037598 | ASB10 | c.188T>G (p.Leu63Arg) c.272-284T>G (n.272-284T>G) c.*232T>G (n.*232T>G) c.323T>G (p.Leu108Arg) | |
7 | g.151186943A>G | CA370037600 | ASB10 | c.188T>C (p.Leu63Pro) c.272-284T>C (n.272-284T>C) c.*232T>C (n.*232T>C) c.323T>C (p.Leu108Pro) | |
7 | g.151186943A>T | CA370037602 | ASB10 | c.188T>A (p.Leu63Gln) c.272-284T>A (n.272-284T>A) c.*232T>A (n.*232T>A) c.323T>A (p.Leu108Gln) | |
7 | g.151186944G>A | CA458881637 | ASB10 | c.187C>T (p.Leu63=) c.272-285C>T (n.272-285C>T) c.*231C>T (n.*231C>T) c.322C>T (p.Leu108=) | |
7 | g.151186944G>C | CA370037603 | ASB10 | c.187C>G (p.Leu63Val) c.272-285C>G (n.272-285C>G) c.*231C>G (n.*231C>G) c.322C>G (p.Leu108Val) | |
7 | g.151186944G>T | CA370037605 | ASB10 | c.187C>A (p.Leu63Met) c.272-285C>A (n.272-285C>A) c.*231C>A (n.*231C>A) c.322C>A (p.Leu108Met) | |
7 | g.151186945C>A | CA458881639 | ASB10 | c.186G>T (p.Val62=) c.272-286G>T (n.272-286G>T) c.*230G>T (n.*230G>T) c.321G>T (p.Val107=) | |
7 | g.151186945C>G | CA458881640 | ASB10 | c.186G>C (p.Val62=) c.272-286G>C (n.272-286G>C) c.*230G>C (n.*230G>C) c.321G>C (p.Val107=) | |
7 | g.151186945C>T | CA458881641 | ASB10 | c.186G>A (p.Val62=) c.272-286G>A (n.272-286G>A) c.*230G>A (n.*230G>A) c.321G>A (p.Val107=) | gnomAD v4 |
7 | g.151186946A>C | CA370037607 | ASB10 | c.185T>G (p.Val62Gly) c.272-287T>G (n.272-287T>G) c.*229T>G (n.*229T>G) c.320T>G (p.Val107Gly) | |
7 | g.151186946A>G | CA370037609 | ASB10 | c.185T>C (p.Val62Ala) c.272-287T>C (n.272-287T>C) c.*229T>C (n.*229T>C) c.320T>C (p.Val107Ala) | gnomAD v4 |
7 | g.151186946A>T | CA370037611 | ASB10 | c.185T>A (p.Val62Glu) c.272-287T>A (n.272-287T>A) c.*229T>A (n.*229T>A) c.320T>A (p.Val107Glu) | |
7 | g.151186947C>A | CA370037612 | ASB10 | c.184G>T (p.Val62Leu) c.272-288G>T (n.272-288G>T) c.*228G>T (n.*228G>T) c.319G>T (p.Val107Leu) | |
7 | g.151186947C= | CA1752545709 | ASB10 | c.184G= (p.Val62=) c.272-288G= (n.272-288G=) c.*228G= (n.*228G=) c.319G= (p.Val107=) | |
7 | g.151186947C>G | CA370037613 | ASB10 | c.184G>C (p.Val62Leu) c.272-288G>C (n.272-288G>C) c.*228G>C (n.*228G>C) c.319G>C (p.Val107Leu) | |
7 | g.151186947C>T | CA4573970 | ASB10 | c.184G>A (p.Val62Met) c.272-288G>A (n.272-288G>A) c.*228G>A (n.*228G>A) c.319G>A (p.Val107Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186948T>A | CA458881646 | ASB10 | c.183A>T (p.Ala61=) c.272-289A>T (n.272-289A>T) c.*227A>T (n.*227A>T) c.318A>T (p.Ala106=) | |
7 | g.151186948T>C | CA458881647 | ASB10 | c.183A>G (p.Ala61=) c.272-289A>G (n.272-289A>G) c.*227A>G (n.*227A>G) c.318A>G (p.Ala106=) | gnomAD v4 |
7 | g.151186948T>G | CA458881648 | ASB10 | c.183A>C (p.Ala61=) c.272-289A>C (n.272-289A>C) c.*227A>C (n.*227A>C) c.318A>C (p.Ala106=) | |
7 | g.151186949G>A | CA370037618 | ASB10 | c.182C>T (p.Ala61Val) c.272-290C>T (n.272-290C>T) c.*226C>T (n.*226C>T) c.317C>T (p.Ala106Val) | |
7 | g.151186949G>C | CA370037619 | ASB10 | c.182C>G (p.Ala61Gly) c.272-290C>G (n.272-290C>G) c.*226C>G (n.*226C>G) c.317C>G (p.Ala106Gly) | |
7 | g.151186949G>T | CA370037616 | ASB10 | c.182C>A (p.Ala61Glu) c.272-290C>A (n.272-290C>A) c.*226C>A (n.*226C>A) c.317C>A (p.Ala106Glu) | |
7 | g.151186950C>A | CA370037624 | ASB10 | c.181G>T (p.Ala61Ser) c.272-291G>T (n.272-291G>T) c.*225G>T (n.*225G>T) c.316G>T (p.Ala106Ser) | dbSNP |
7 | g.151186950C= | CA1752545712 | ASB10 | c.181G= (p.Ala61=) c.272-291G= (n.272-291G=) c.*225G= (n.*225G=) c.316G= (p.Ala106=) | |
7 | g.151186950C>G | CA370037620 | ASB10 | c.181G>C (p.Ala61Pro) c.272-291G>C (n.272-291G>C) c.*225G>C (n.*225G>C) c.316G>C (p.Ala106Pro) | |
7 | g.151186950C>T | CA370037622 | ASB10 | c.181G>A (p.Ala61Thr) c.272-291G>A (n.272-291G>A) c.*225G>A (n.*225G>A) c.316G>A (p.Ala106Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186951C>A | CA370037625 | ASB10 | c.180G>T (p.Gln60His) c.272-292G>T (n.272-292G>T) c.*224G>T (n.*224G>T) c.315G>T (p.Gln105His) | |
7 | g.151186951C>G | CA370037627 | ASB10 | c.180G>C (p.Gln60His) c.272-292G>C (n.272-292G>C) c.*224G>C (n.*224G>C) c.315G>C (p.Gln105His) | gnomAD v4 |
7 | g.151186951C>T | CA458881653 | ASB10 | c.180G>A (p.Gln60=) c.272-292G>A (n.272-292G>A) c.*224G>A (n.*224G>A) c.315G>A (p.Gln105=) | |
7 | g.151186952T>A | CA370037628 | ASB10 | c.179A>T (p.Gln60Leu) c.272-293A>T (n.272-293A>T) c.*223A>T (n.*223A>T) c.314A>T (p.Gln105Leu) | |
7 | g.151186952T>C | CA370037629 | ASB10 | c.179A>G (p.Gln60Arg) c.272-293A>G (n.272-293A>G) c.*223A>G (n.*223A>G) c.314A>G (p.Gln105Arg) | |
7 | g.151186952T>G | CA370037630 | ASB10 | c.179A>C (p.Gln60Pro) c.272-293A>C (n.272-293A>C) c.*223A>C (n.*223A>C) c.314A>C (p.Gln105Pro) | gnomAD v4 |
7 | g.151186953G>A | CA370037631 | ASB10 | c.178C>T (p.Gln60Ter) c.272-294C>T (n.272-294C>T) c.*222C>T (n.*222C>T) c.313C>T (p.Gln105Ter) | |
7 | g.151186953G>C | CA370037632 | ASB10 | c.178C>G (p.Gln60Glu) c.272-294C>G (n.272-294C>G) c.*222C>G (n.*222C>G) c.313C>G (p.Gln105Glu) | |
7 | g.151186953G= | CA1752545714 | ASB10 | c.178C= (p.Gln60=) c.272-294C= (n.272-294C=) c.*222C= (n.*222C=) c.313C= (p.Gln105=) | |
7 | g.151186953G>T | CA370037634 | ASB10 | c.178C>A (p.Gln60Lys) c.272-294C>A (n.272-294C>A) c.*222C>A (n.*222C>A) c.313C>A (p.Gln105Lys) | dbSNP |
7 | g.151186954C>A | CA370037636 | ASB10 | c.177G>T (p.Trp59Cys) c.272-295G>T (n.272-295G>T) c.*221G>T (n.*221G>T) c.312G>T (p.Trp104Cys) | |
7 | g.151186954C>G | CA370037638 | ASB10 | c.177G>C (p.Trp59Cys) c.272-295G>C (n.272-295G>C) c.*221G>C (n.*221G>C) c.312G>C (p.Trp104Cys) | |
7 | g.151186954C>T | CA370037639 | ASB10 | c.177G>A (p.Trp59Ter) c.272-295G>A (n.272-295G>A) c.*221G>A (n.*221G>A) c.312G>A (p.Trp104Ter) | |
7 | g.151186955C>A | CA370037643 | ASB10 | c.176G>T (p.Trp59Leu) c.272-296G>T (n.272-296G>T) c.*220G>T (n.*220G>T) c.311G>T (p.Trp104Leu) | |
7 | g.151186955C>G | CA370037640 | ASB10 | c.176G>C (p.Trp59Ser) c.272-296G>C (n.272-296G>C) c.*220G>C (n.*220G>C) c.311G>C (p.Trp104Ser) | |
7 | g.151186955C>T | CA370037642 | ASB10 | c.176G>A (p.Trp59Ter) c.272-296G>A (n.272-296G>A) c.*220G>A (n.*220G>A) c.311G>A (p.Trp104Ter) | |
7 | g.151186956A= | CA1752545717 | ASB10 | c.175T= (p.Trp59=) c.272-297T= (n.272-297T=) c.*219T= (n.*219T=) c.310T= (p.Trp104=) | |
7 | g.151186956A>C | CA370037645 | ASB10 | c.175T>G (p.Trp59Gly) c.272-297T>G (n.272-297T>G) c.*219T>G (n.*219T>G) c.310T>G (p.Trp104Gly) | |
7 | g.151186956A>G | CA4573971 | ASB10 | c.175T>C (p.Trp59Arg) c.272-297T>C (n.272-297T>C) c.*219T>C (n.*219T>C) c.310T>C (p.Trp104Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186956A>T | CA370037647 | ASB10 | c.175T>A (p.Trp59Arg) c.272-297T>A (n.272-297T>A) c.*219T>A (n.*219T>A) c.310T>A (p.Trp104Arg) | |
7 | g.151186957G>A | CA4573972 | ASB10 | c.174C>T (p.Phe58=) c.272-298C>T (n.272-298C>T) c.*218C>T (n.*218C>T) c.309C>T (p.Phe103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186957G>C | CA370037648 | ASB10 | c.174C>G (p.Phe58Leu) c.272-298C>G (n.272-298C>G) c.*218C>G (n.*218C>G) c.309C>G (p.Phe103Leu) | |
7 | g.151186957G= | CA1752545720 | ASB10 | c.174C= (p.Phe58=) c.272-298C= (n.272-298C=) c.*218C= (n.*218C=) c.309C= (p.Phe103=) | |
7 | g.151186957G>T | CA370037650 | ASB10 | c.174C>A (p.Phe58Leu) c.272-298C>A (n.272-298C>A) c.*218C>A (n.*218C>A) c.309C>A (p.Phe103Leu) | |
7 | g.151186958A= | CA1752545726 | ASB10 | c.173T= (p.Phe58=) c.272-299T= (n.272-299T=) c.*217T= (n.*217T=) c.308T= (p.Phe103=) | |
7 | g.151186958A>C | CA370037652 | ASB10 | c.173T>G (p.Phe58Cys) c.272-299T>G (n.272-299T>G) c.*217T>G (n.*217T>G) c.308T>G (p.Phe103Cys) | |
7 | g.151186958A>G | CA4573973 | ASB10 | c.173T>C (p.Phe58Ser) c.272-299T>C (n.272-299T>C) c.*217T>C (n.*217T>C) c.308T>C (p.Phe103Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186958A>T | CA370037654 | ASB10 | c.173T>A (p.Phe58Tyr) c.272-299T>A (n.272-299T>A) c.*217T>A (n.*217T>A) c.308T>A (p.Phe103Tyr) | |
7 | g.151186959dup | CA2685657628 | ASB10 | c.173dup (p.Trp59LeufsTer26) c.272-299dup (n.272-299dup) c.*217dup (n.*217dup) c.308dup (p.Trp104LeufsTer26) | gnomAD v4 |
7 | g.151186959A>C | CA370037656 | ASB10 | c.172T>G (p.Phe58Val) c.272-300T>G (n.272-300T>G) c.*216T>G (n.*216T>G) c.307T>G (p.Phe103Val) | |
7 | g.151186959A>G | CA370037658 | ASB10 | c.172T>C (p.Phe58Leu) c.272-300T>C (n.272-300T>C) c.*216T>C (n.*216T>C) c.307T>C (p.Phe103Leu) | |
7 | g.151186959A>T | CA370037660 | ASB10 | c.172T>A (p.Phe58Ile) c.272-300T>A (n.272-300T>A) c.*216T>A (n.*216T>A) c.307T>A (p.Phe103Ile) | |
7 | g.151186960G>A | CA458881658 | ASB10 | c.171C>T (p.Ala57=) c.272-301C>T (n.272-301C>T) c.*215C>T (n.*215C>T) c.306C>T (p.Ala102=) | |
7 | g.151186960G>C | CA458881659 | ASB10 | c.171C>G (p.Ala57=) c.272-301C>G (n.272-301C>G) c.*215C>G (n.*215C>G) c.306C>G (p.Ala102=) | gnomAD v4 |
7 | g.151186960G>T | CA458881660 | ASB10 | c.171C>A (p.Ala57=) c.272-301C>A (n.272-301C>A) c.*215C>A (n.*215C>A) c.306C>A (p.Ala102=) | |
7 | g.151186961G>A | CA370037665 | ASB10 | c.170C>T (p.Ala57Val) c.272-302C>T (n.272-302C>T) c.*214C>T (n.*214C>T) c.305C>T (p.Ala102Val) | |
7 | g.151186961G>C | CA370037664 | ASB10 | c.170C>G (p.Ala57Gly) c.272-302C>G (n.272-302C>G) c.*214C>G (n.*214C>G) c.305C>G (p.Ala102Gly) | |
7 | g.151186961G>T | CA370037662 | ASB10 | c.170C>A (p.Ala57Asp) c.272-302C>A (n.272-302C>A) c.*214C>A (n.*214C>A) c.305C>A (p.Ala102Asp) | |
7 | g.151186962C>A | CA370037670 | ASB10 | c.169G>T (p.Ala57Ser) c.272-303G>T (n.272-303G>T) c.*213G>T (n.*213G>T) c.304G>T (p.Ala102Ser) | |
7 | g.151186962C>G | CA370037667 | ASB10 | c.169G>C (p.Ala57Pro) c.272-303G>C (n.272-303G>C) c.*213G>C (n.*213G>C) c.304G>C (p.Ala102Pro) | gnomAD v4 |
7 | g.151186962C>T | CA370037668 | ASB10 | c.169G>A (p.Ala57Thr) c.272-303G>A (n.272-303G>A) c.*213G>A (n.*213G>A) c.304G>A (p.Ala102Thr) | |
7 | g.151186962_151186963delinsCA | CA1752545728 | ASB10 | c.168_169delinsTG (p.Leu56=) c.272-304_272-303delinsTG (n.272-304_272-303delinsTG) c.*212_*213delinsTG (n.*212_*213delinsTG) c.303_304delinsTG (p.Leu101=) | |
7 | g.151186963A= | CA1752545731 | ASB10 | c.168T= (p.Leu56=) c.272-304T= (n.272-304T=) c.*212T= (n.*212T=) c.303T= (p.Leu101=) | |
7 | g.151186963A>C | CA458881664 | ASB10 | c.168T>G (p.Leu56=) c.272-304T>G (n.272-304T>G) c.*212T>G (n.*212T>G) c.303T>G (p.Leu101=) | |
7 | g.151186963A>G | CA458881665 | ASB10 | c.168T>C (p.Leu56=) c.272-304T>C (n.272-304T>C) c.*212T>C (n.*212T>C) c.303T>C (p.Leu101=) | dbSNP gnomAD v4 |
7 | g.151186963A>T | CA458881666 | ASB10 | c.168T>A (p.Leu56=) c.272-304T>A (n.272-304T>A) c.*212T>A (n.*212T>A) c.303T>A (p.Leu101=) | |
7 | g.151186964del | CA1752545730 | ASB10 | c.168del (p.Ala57ProfsTer?) c.272-304del (n.272-304del) c.*212del (n.*212del) c.303del (p.Ala102ProfsTer?) | dbSNP |
7 | g.151186964A>C | CA370037671 | ASB10 | c.167T>G (p.Leu56Arg) c.272-305T>G (n.272-305T>G) c.*211T>G (n.*211T>G) c.302T>G (p.Leu101Arg) | |
7 | g.151186964A>G | CA370037673 | ASB10 | c.167T>C (p.Leu56Pro) c.272-305T>C (n.272-305T>C) c.*211T>C (n.*211T>C) c.302T>C (p.Leu101Pro) | |
7 | g.151186964A>T | CA370037674 | ASB10 | c.167T>A (p.Leu56His) c.272-305T>A (n.272-305T>A) c.*211T>A (n.*211T>A) c.302T>A (p.Leu101His) | |
7 | g.151186965G>A | CA370037680 | ASB10 | c.166C>T (p.Leu56Phe) c.272-306C>T (n.272-306C>T) c.*210C>T (n.*210C>T) c.301C>T (p.Leu101Phe) | |
7 | g.151186965G>C | CA370037678 | ASB10 | c.166C>G (p.Leu56Val) c.272-306C>G (n.272-306C>G) c.*210C>G (n.*210C>G) c.301C>G (p.Leu101Val) | |
7 | g.151186965G>T | CA370037676 | ASB10 | c.166C>A (p.Leu56Ile) c.272-306C>A (n.272-306C>A) c.*210C>A (n.*210C>A) c.301C>A (p.Leu101Ile) | |
7 | g.151186966G>A | CA458881673 | ASB10 | c.165C>T (p.Ala55=) c.272-307C>T (n.272-307C>T) c.*209C>T (n.*209C>T) c.300C>T (p.Ala100=) | dbSNP gnomAD v2 |
7 | g.151186966G>C | CA458881671 | ASB10 | c.165C>G (p.Ala55=) c.272-307C>G (n.272-307C>G) c.*209C>G (n.*209C>G) c.300C>G (p.Ala100=) | |
7 | g.151186966G= | CA1752545734 | ASB10 | c.165C= (p.Ala55=) c.272-307C= (n.272-307C=) c.*209C= (n.*209C=) c.300C= (p.Ala100=) | |
7 | g.151186966G>T | CA458881672 | ASB10 | c.165C>A (p.Ala55=) c.272-307C>A (n.272-307C>A) c.*209C>A (n.*209C>A) c.300C>A (p.Ala100=) | |
7 | g.151186967G>A | CA4573974 | ASB10 | c.164C>T (p.Ala55Val) c.272-308C>T (n.272-308C>T) c.*208C>T (n.*208C>T) c.299C>T (p.Ala100Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186967G>C | CA370037681 | ASB10 | c.164C>G (p.Ala55Gly) c.272-308C>G (n.272-308C>G) c.*208C>G (n.*208C>G) c.299C>G (p.Ala100Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186967G= | CA1752545738 | ASB10 | c.164C= (p.Ala55=) c.272-308C= (n.272-308C=) c.*208C= (n.*208C=) c.299C= (p.Ala100=) | |
7 | g.151186967G>T | CA370037682 | ASB10 | c.164C>A (p.Ala55Asp) c.272-308C>A (n.272-308C>A) c.*208C>A (n.*208C>A) c.299C>A (p.Ala100Asp) | |
7 | g.151186968C>A | CA370037683 | ASB10 | c.163G>T (p.Ala55Ser) c.272-309G>T (n.272-309G>T) c.*207G>T (n.*207G>T) c.298G>T (p.Ala100Ser) | |
7 | g.151186968C= | CA1752545743 | ASB10 | c.163G= (p.Ala55=) c.272-309G= (n.272-309G=) c.*207G= (n.*207G=) c.298G= (p.Ala100=) | |
7 | g.151186968C>G | CA370037685 | ASB10 | c.163G>C (p.Ala55Pro) c.272-309G>C (n.272-309G>C) c.*207G>C (n.*207G>C) c.298G>C (p.Ala100Pro) | |
7 | g.151186968C>T | CA370037687 | ASB10 | c.163G>A (p.Ala55Thr) c.272-309G>A (n.272-309G>A) c.*207G>A (n.*207G>A) c.298G>A (p.Ala100Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186969A>C | CA458881676 | ASB10 | c.162T>G (p.Pro54=) c.272-310T>G (n.272-310T>G) c.*206T>G (n.*206T>G) c.297T>G (p.Pro99=) | |
7 | g.151186969A>G | CA458881677 | ASB10 | c.162T>C (p.Pro54=) c.272-310T>C (n.272-310T>C) c.*206T>C (n.*206T>C) c.297T>C (p.Pro99=) | |
7 | g.151186969A>T | CA458881678 | ASB10 | c.162T>A (p.Pro54=) c.272-310T>A (n.272-310T>A) c.*206T>A (n.*206T>A) c.297T>A (p.Pro99=) | |
7 | g.151186970G>A | CA370037689 | ASB10 | c.161C>T (p.Pro54Leu) c.272-311C>T (n.272-311C>T) c.*205C>T (n.*205C>T) c.296C>T (p.Pro99Leu) | |
7 | g.151186970G>C | CA370037691 | ASB10 | c.161C>G (p.Pro54Arg) c.272-311C>G (n.272-311C>G) c.*205C>G (n.*205C>G) c.296C>G (p.Pro99Arg) | |
7 | g.151186970G>T | CA370037690 | ASB10 | c.161C>A (p.Pro54His) c.272-311C>A (n.272-311C>A) c.*205C>A (n.*205C>A) c.296C>A (p.Pro99His) | |
7 | g.151186971dup | CA2839999850 | ASB10 | c.161dup (p.Ala55CysfsTer30) c.272-311dup (n.272-311dup) c.*205dup (n.*205dup) c.296dup (p.Ala100CysfsTer30) | |
7 | g.151186971G>A | CA370037692 | ASB10 | c.160C>T (p.Pro54Ser) c.272-312C>T (n.272-312C>T) c.*204C>T (n.*204C>T) c.295C>T (p.Pro99Ser) | |
7 | g.151186971G>C | CA370037694 | ASB10 | c.160C>G (p.Pro54Ala) c.272-312C>G (n.272-312C>G) c.*204C>G (n.*204C>G) c.295C>G (p.Pro99Ala) | |
7 | g.151186971G= | CA1752545745 | ASB10 | c.160C= (p.Pro54=) c.272-312C= (n.272-312C=) c.*204C= (n.*204C=) c.295C= (p.Pro99=) | |
7 | g.151186971G>T | CA169125950 | ASB10 | c.160C>A (p.Pro54Thr) c.272-312C>A (n.272-312C>A) c.*204C>A (n.*204C>A) c.295C>A (p.Pro99Thr) | dbSNP gnomAD v4 |
7 | g.151186972T>A | CA458881683 | ASB10 | c.159A>T (p.Gly53=) c.272-313A>T (n.272-313A>T) c.*203A>T (n.*203A>T) c.294A>T (p.Gly98=) | |
7 | g.151186972T>C | CA458881685 | ASB10 | c.159A>G (p.Gly53=) c.272-313A>G (n.272-313A>G) c.*203A>G (n.*203A>G) c.294A>G (p.Gly98=) | gnomAD v4 |
7 | g.151186972T>G | CA458881687 | ASB10 | c.159A>C (p.Gly53=) c.272-313A>C (n.272-313A>C) c.*203A>C (n.*203A>C) c.294A>C (p.Gly98=) | |
7 | g.151186973C>A | CA370037695 | ASB10 | c.158G>T (p.Gly53Val) c.272-314G>T (n.272-314G>T) c.*202G>T (n.*202G>T) c.293G>T (p.Gly98Val) | |
7 | g.151186973C= | CA1752545750 | ASB10 | c.158G= (p.Gly53=) c.272-314G= (n.272-314G=) c.*202G= (n.*202G=) c.293G= (p.Gly98=) | |
7 | g.151186973C>G | CA370037696 | ASB10 | c.158G>C (p.Gly53Ala) c.272-314G>C (n.272-314G>C) c.*202G>C (n.*202G>C) c.293G>C (p.Gly98Ala) | |
7 | g.151186973C>T | CA370037698 | ASB10 | c.158G>A (p.Gly53Glu) c.272-314G>A (n.272-314G>A) c.*202G>A (n.*202G>A) c.293G>A (p.Gly98Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186974C>A | CA370037700 | ASB10 | c.157G>T (p.Gly53Ter) c.272-315G>T (n.272-315G>T) c.*201G>T (n.*201G>T) c.292G>T (p.Gly98Ter) | |
7 | g.151186974C>G | CA370037701 | ASB10 | c.157G>C (p.Gly53Arg) c.272-315G>C (n.272-315G>C) c.*201G>C (n.*201G>C) c.292G>C (p.Gly98Arg) | |
7 | g.151186974C>T | CA370037703 | ASB10 | c.157G>A (p.Gly53Arg) c.272-315G>A (n.272-315G>A) c.*201G>A (n.*201G>A) c.292G>A (p.Gly98Arg) | |
7 | g.151186975T>A | CA458881689 | ASB10 | c.156A>T (p.Ser52=) c.272-316A>T (n.272-316A>T) c.*200A>T (n.*200A>T) c.291A>T (p.Ser97=) | |
7 | g.151186975T>C | CA458881690 | ASB10 | c.156A>G (p.Ser52=) c.272-316A>G (n.272-316A>G) c.*200A>G (n.*200A>G) c.291A>G (p.Ser97=) | |
7 | g.151186975T>G | CA458881691 | ASB10 | c.156A>C (p.Ser52=) c.272-316A>C (n.272-316A>C) c.*200A>C (n.*200A>C) c.291A>C (p.Ser97=) | |
7 | g.151186976G>A | CA370037704 | ASB10 | c.155C>T (p.Ser52Leu) c.272-317C>T (n.272-317C>T) c.*199C>T (n.*199C>T) c.290C>T (p.Ser97Leu) | dbSNP |
7 | g.151186976G>C | CA370037705 | ASB10 | c.155C>G (p.Ser52Ter) c.272-317C>G (n.272-317C>G) c.*199C>G (n.*199C>G) c.290C>G (p.Ser97Ter) | |
7 | g.151186976G= | CA1752545753 | ASB10 | c.155C= (p.Ser52=) c.272-317C= (n.272-317C=) c.*199C= (n.*199C=) c.290C= (p.Ser97=) | |
7 | g.151186976G>T | CA370037707 | ASB10 | c.155C>A (p.Ser52Ter) c.272-317C>A (n.272-317C>A) c.*199C>A (n.*199C>A) c.290C>A (p.Ser97Ter) | |
7 | g.151186977A>C | CA370037710 | ASB10 | c.154T>G (p.Ser52Ala) c.272-318T>G (n.272-318T>G) c.*198T>G (n.*198T>G) c.289T>G (p.Ser97Ala) | |
7 | g.151186977A>G | CA370037712 | ASB10 | c.154T>C (p.Ser52Pro) c.272-318T>C (n.272-318T>C) c.*198T>C (n.*198T>C) c.289T>C (p.Ser97Pro) | |
7 | g.151186977A>T | CA370037709 | ASB10 | c.154T>A (p.Ser52Thr) c.272-318T>A (n.272-318T>A) c.*198T>A (n.*198T>A) c.289T>A (p.Ser97Thr) | |
7 | g.151186978G>A | CA458881699 | ASB10 | c.153C>T (p.Ala51=) c.272-319C>T (n.272-319C>T) c.*197C>T (n.*197C>T) c.288C>T (p.Ala96=) | |
7 | g.151186978G>C | CA458881700 | ASB10 | c.153C>G (p.Ala51=) c.272-319C>G (n.272-319C>G) c.*197C>G (n.*197C>G) c.288C>G (p.Ala96=) | |
7 | g.151186978G>T | CA458881701 | ASB10 | c.153C>A (p.Ala51=) c.272-319C>A (n.272-319C>A) c.*197C>A (n.*197C>A) c.288C>A (p.Ala96=) | |
7 | g.151186979G>A | CA370037713 | ASB10 | c.152C>T (p.Ala51Val) c.272-320C>T (n.272-320C>T) c.*196C>T (n.*196C>T) c.287C>T (p.Ala96Val) | |
7 | g.151186979G>C | CA370037715 | ASB10 | c.152C>G (p.Ala51Gly) c.272-320C>G (n.272-320C>G) c.*196C>G (n.*196C>G) c.287C>G (p.Ala96Gly) | dbSNP |
7 | g.151186979G= | CA1752545756 | ASB10 | c.152C= (p.Ala51=) c.272-320C= (n.272-320C=) c.*196C= (n.*196C=) c.287C= (p.Ala96=) | |
7 | g.151186979G>T | CA370037716 | ASB10 | c.152C>A (p.Ala51Asp) c.272-320C>A (n.272-320C>A) c.*196C>A (n.*196C>A) c.287C>A (p.Ala96Asp) | |
7 | g.151186980C>A | CA4573975 | ASB10 | c.151G>T (p.Ala51Ser) c.272-321G>T (n.272-321G>T) c.*195G>T (n.*195G>T) c.286G>T (p.Ala96Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186980C= | CA1752545760 | ASB10 | c.151G= (p.Ala51=) c.272-321G= (n.272-321G=) c.*195G= (n.*195G=) c.286G= (p.Ala96=) | |
7 | g.151186980C>G | CA370037718 | ASB10 | c.151G>C (p.Ala51Pro) c.272-321G>C (n.272-321G>C) c.*195G>C (n.*195G>C) c.286G>C (p.Ala96Pro) | |
7 | g.151186980C>T | CA4573976 | ASB10 | c.151G>A (p.Ala51Thr) c.272-321G>A (n.272-321G>A) c.*195G>A (n.*195G>A) c.286G>A (p.Ala96Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186981T>A | CA4573977 | ASB10 | c.150A>T (p.Thr50=) c.272-322A>T (n.272-322A>T) c.*194A>T (n.*194A>T) c.285A>T (p.Thr95=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186981T>C | CA458881705 | ASB10 | c.150A>G (p.Thr50=) c.272-322A>G (n.272-322A>G) c.*194A>G (n.*194A>G) c.285A>G (p.Thr95=) | |
7 | g.151186981T>G | CA458881707 | ASB10 | c.150A>C (p.Thr50=) c.272-322A>C (n.272-322A>C) c.*194A>C (n.*194A>C) c.285A>C (p.Thr95=) | |
7 | g.151186981T= | CA1752545765 | ASB10 | c.150A= (p.Thr50=) c.272-322A= (n.272-322A=) c.*194A= (n.*194A=) c.285A= (p.Thr95=) | |
7 | g.151186982G>A | CA4573978 | ASB10 | c.149C>T (p.Thr50Ile) c.272-323C>T (n.272-323C>T) c.*193C>T (n.*193C>T) c.284C>T (p.Thr95Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186982G>C | CA370037723 | ASB10 | c.149C>G (p.Thr50Arg) c.272-323C>G (n.272-323C>G) c.*193C>G (n.*193C>G) c.284C>G (p.Thr95Arg) | |
7 | g.151186982G= | CA1752545771 | ASB10 | c.149C= (p.Thr50=) c.272-323C= (n.272-323C=) c.*193C= (n.*193C=) c.284C= (p.Thr95=) | |
7 | g.151186982G>T | CA370037722 | ASB10 | c.149C>A (p.Thr50Lys) c.272-323C>A (n.272-323C>A) c.*193C>A (n.*193C>A) c.284C>A (p.Thr95Lys) | |
7 | g.151186983T>A | CA370037725 | ASB10 | c.148A>T (p.Thr50Ser) c.272-324A>T (n.272-324A>T) c.*192A>T (n.*192A>T) c.283A>T (p.Thr95Ser) | |
7 | g.151186983T>C | CA370037727 | ASB10 | c.148A>G (p.Thr50Ala) c.272-324A>G (n.272-324A>G) c.*192A>G (n.*192A>G) c.283A>G (p.Thr95Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151186983T>G | CA370037729 | ASB10 | c.148A>C (p.Thr50Pro) c.272-324A>C (n.272-324A>C) c.*192A>C (n.*192A>C) c.283A>C (p.Thr95Pro) | dbSNP gnomAD v4 |
7 | g.151186983T= | CA1752545776 | ASB10 | c.148A= (p.Thr50=) c.272-324A= (n.272-324A=) c.*192A= (n.*192A=) c.283A= (p.Thr95=) | |
7 | g.151186984G>A | CA169125998 | ASB10 | c.147C>T (p.Arg49=) c.272-325C>T (n.272-325C>T) c.*191C>T (n.*191C>T) c.282C>T (p.Arg94=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186984G>C | CA458881713 | ASB10 | c.147C>G (p.Arg49=) c.272-325C>G (n.272-325C>G) c.*191C>G (n.*191C>G) c.282C>G (p.Arg94=) | |
7 | g.151186984G= | CA1752545783 | ASB10 | c.147C= (p.Arg49=) c.272-325C= (n.272-325C=) c.*191C= (n.*191C=) c.282C= (p.Arg94=) | |
7 | g.151186984G>T | CA4573979 | ASB10 | c.147C>A (p.Arg49=) c.272-325C>A (n.272-325C>A) c.*191C>A (n.*191C>A) c.282C>A (p.Arg94=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186985_151186986dup | CA2685657629 | ASB10 | c.146_147dup (p.Thr50AlafsTer?) c.272-326_272-325dup (n.272-326_272-325dup) c.*190_*191dup (n.*190_*191dup) c.281_282dup (p.Thr95AlafsTer?) | gnomAD v4 |
7 | g.151186985C>A | CA370037732 | ASB10 | c.146G>T (p.Arg49Leu) c.272-326G>T (n.272-326G>T) c.*190G>T (n.*190G>T) c.281G>T (p.Arg94Leu) | |
7 | g.151186985C= | CA1752545788 | ASB10 | c.146G= (p.Arg49=) c.272-326G= (n.272-326G=) c.*190G= (n.*190G=) c.281G= (p.Arg94=) | |
7 | g.151186985C>G | CA4573981 | ASB10 | c.146G>C (p.Arg49Pro) c.272-326G>C (n.272-326G>C) c.*190G>C (n.*190G>C) c.281G>C (p.Arg94Pro) | dbSNP ExAC gnomAD v2 |
7 | g.151186985C>T | CA4573980 | ASB10 | c.146G>A (p.Arg49His) c.272-326G>A (n.272-326G>A) c.*190G>A (n.*190G>A) c.281G>A (p.Arg94His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186986G>A | CA4573983 | ASB10 | c.145C>T (p.Arg49Cys) c.272-327C>T (n.272-327C>T) c.*189C>T (n.*189C>T) c.280C>T (p.Arg94Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186986G>C | CA4573982 | ASB10 | c.145C>G (p.Arg49Gly) c.272-327C>G (n.272-327C>G) c.*189C>G (n.*189C>G) c.280C>G (p.Arg94Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186986G= | CA1752545791 | ASB10 | c.145C= (p.Arg49=) c.272-327C= (n.272-327C=) c.*189C= (n.*189C=) c.280C= (p.Arg94=) | |
7 | g.151186986G>T | CA370037734 | ASB10 | c.145C>A (p.Arg49Ser) c.272-327C>A (n.272-327C>A) c.*189C>A (n.*189C>A) c.280C>A (p.Arg94Ser) | |
7 | g.151186987G>A | CA458881719 | ASB10 | c.144C>T (p.Thr48=) c.272-328C>T (n.272-328C>T) c.*188C>T (n.*188C>T) c.279C>T (p.Thr93=) | |
7 | g.151186987G>C | CA458881717 | ASB10 | c.144C>G (p.Thr48=) c.272-328C>G (n.272-328C>G) c.*188C>G (n.*188C>G) c.279C>G (p.Thr93=) | |
7 | g.151186987G>T | CA458881718 | ASB10 | c.144C>A (p.Thr48=) c.272-328C>A (n.272-328C>A) c.*188C>A (n.*188C>A) c.279C>A (p.Thr93=) | |
7 | g.151186988G>A | CA4573984 | ASB10 | c.143C>T (p.Thr48Ile) c.272-329C>T (n.272-329C>T) c.*187C>T (n.*187C>T) c.278C>T (p.Thr93Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151186988G>C | CA150520 | ASB10 | c.143C>G (p.Thr48Ser) c.272-329C>G (n.272-329C>G) c.*187C>G (n.*187C>G) c.278C>G (p.Thr93Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151186988G= | CA1752545797 | ASB10 | c.143C= (p.Thr48=) c.272-329C= (n.272-329C=) c.*187C= (n.*187C=) c.278C= (p.Thr93=) | |
7 | g.151186988G>T | CA370037737 | ASB10 | c.143C>A (p.Thr48Asn) c.272-329C>A (n.272-329C>A) c.*187C>A (n.*187C>A) c.278C>A (p.Thr93Asn) | |
7 | g.151186989T>A | CA370037739 | ASB10 | c.142A>T (p.Thr48Ser) c.272-330A>T (n.272-330A>T) c.*186A>T (n.*186A>T) c.277A>T (p.Thr93Ser) | |
7 | g.151186989T>C | CA370037740 | ASB10 | c.142A>G (p.Thr48Ala) c.272-330A>G (n.272-330A>G) c.*186A>G (n.*186A>G) c.277A>G (p.Thr93Ala) | |
7 | g.151186989T>G | CA370037741 | ASB10 | c.142A>C (p.Thr48Pro) c.272-330A>C (n.272-330A>C) c.*186A>C (n.*186A>C) c.277A>C (p.Thr93Pro) |