Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1985843C>G | CA656219612 | GFER | c.231-23C>G (n.231-23C>G) c.456-23C>G (n.456-23C>G) n.613-23C>G c.259-23C>G (n.259-23C>G) | COSMIC |
16 | g.1985843_1985844delinsCT | CA2201967660 | GFER | c.231-23_231-22delinsCT (n.231-23_231-22delinsCT) c.456-23_456-22delinsCT (n.456-23_456-22delinsCT) n.613-23_613-22delinsCT c.259-23_259-22delinsCT (n.259-23_259-22delinsCT) | |
16 | g.1985844T>G | CA7826062 | GFER | c.231-22T>G (n.231-22T>G) c.456-22T>G (n.456-22T>G) n.613-22T>G c.259-22T>G (n.259-22T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985844T= | CA2201967663 | GFER | c.231-22T= (n.231-22T=) c.456-22T= (n.456-22T=) n.613-22T= c.259-22T= (n.259-22T=) | |
16 | g.1985846del | CA620704190 | GFER | c.231-20del (n.231-20del) c.456-20del (n.456-20del) n.613-20del c.259-20del (n.259-20del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985846T>C | CA7826063 | GFER | c.231-20T>C (n.231-20T>C) c.456-20T>C (n.456-20T>C) n.613-20T>C c.259-20T>C (n.259-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985846T= | CA2201967665 | GFER | c.231-20T= (n.231-20T=) c.456-20T= (n.456-20T=) n.613-20T= c.259-20T= (n.259-20T=) | |
16 | g.1985848C>A | CA2631092411 | GFER | c.231-18C>A (n.231-18C>A) c.456-18C>A (n.456-18C>A) n.613-18C>A c.259-18C>A (n.259-18C>A) | gnomAD v4 |
16 | g.1985848C= | CA2201967667 | GFER | c.231-18C= (n.231-18C=) c.456-18C= (n.456-18C=) n.613-18C= c.259-18C= (n.259-18C=) | |
16 | g.1985848C>T | CA7826064 | GFER | c.231-18C>T (n.231-18C>T) c.456-18C>T (n.456-18C>T) n.613-18C>T c.259-18C>T (n.259-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985849C>G | CA2580090494 | GFER | c.231-17C>G (n.231-17C>G) c.456-17C>G (n.456-17C>G) n.613-17C>G c.259-17C>G (n.259-17C>G) | ClinVar gnomAD v4 |
16 | g.1985849C>T | CA2631092413 | GFER | c.231-17C>T (n.231-17C>T) c.456-17C>T (n.456-17C>T) n.613-17C>T c.259-17C>T (n.259-17C>T) | gnomAD v4 |
16 | g.1985850T>G | CA2201967669 | GFER | c.231-16T>G (n.231-16T>G) c.456-16T>G (n.456-16T>G) n.613-16T>G c.259-16T>G (n.259-16T>G) | dbSNP gnomAD v4 |
16 | g.1985850T= | CA2201967668 | GFER | c.231-16T= (n.231-16T=) c.456-16T= (n.456-16T=) n.613-16T= c.259-16T= (n.259-16T=) | |
16 | g.1985851G>A | CA2631092414 | GFER | c.231-15G>A (n.231-15G>A) c.456-15G>A (n.456-15G>A) n.613-15G>A c.259-15G>A (n.259-15G>A) | gnomAD v4 |
16 | g.1985851G>C | CA2631092416 | GFER | c.231-15G>C (n.231-15G>C) c.456-15G>C (n.456-15G>C) n.613-15G>C c.259-15G>C (n.259-15G>C) | gnomAD v4 |
16 | g.1985851G>T | CA2631092417 | GFER | c.231-15G>T (n.231-15G>T) c.456-15G>T (n.456-15G>T) n.613-15G>T c.259-15G>T (n.259-15G>T) | gnomAD v4 |
16 | g.1985852C= | CA2201967671 | GFER | c.231-14C= (n.231-14C=) c.456-14C= (n.456-14C=) n.613-14C= c.259-14C= (n.259-14C=) | |
16 | g.1985852C>T | CA7826065 | GFER | c.231-14C>T (n.231-14C>T) c.456-14C>T (n.456-14C>T) n.613-14C>T c.259-14C>T (n.259-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985854C= | CA2201967672 | GFER | c.231-12C= (n.231-12C=) c.456-12C= (n.456-12C=) n.613-12C= c.259-12C= (n.259-12C=) | |
16 | g.1985854C>G | CA2739269872 | GFER | c.231-12C>G (n.231-12C>G) c.456-12C>G (n.456-12C>G) n.613-12C>G c.259-12C>G (n.259-12C>G) | ClinVar |
16 | g.1985854C>T | CA276773459 | GFER | c.231-12C>T (n.231-12C>T) c.456-12C>T (n.456-12C>T) n.613-12C>T c.259-12C>T (n.259-12C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.1985855T>A | CA276773462 | GFER | c.231-11T>A (n.231-11T>A) c.456-11T>A (n.456-11T>A) n.613-11T>A c.259-11T>A (n.259-11T>A) | dbSNP |
16 | g.1985855T>C | CA2631092419 | GFER | c.231-11T>C (n.231-11T>C) c.456-11T>C (n.456-11T>C) n.613-11T>C c.259-11T>C (n.259-11T>C) | gnomAD v4 |
16 | g.1985855T= | CA2201967674 | GFER | c.231-11T= (n.231-11T=) c.456-11T= (n.456-11T=) n.613-11T= c.259-11T= (n.259-11T=) | |
16 | g.1985856C>A | CA620704191 | GFER | c.231-10C>A (n.231-10C>A) c.456-10C>A (n.456-10C>A) n.613-10C>A c.259-10C>A (n.259-10C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985856C= | CA2201967676 | GFER | c.231-10C= (n.231-10C=) c.456-10C= (n.456-10C=) n.613-10C= c.259-10C= (n.259-10C=) | |
16 | g.1985856C>T | CA2575875468 | GFER | c.231-10C>T (n.231-10C>T) c.456-10C>T (n.456-10C>T) n.613-10C>T c.259-10C>T (n.259-10C>T) | |
16 | g.1985857C= | CA2201967679 | GFER | c.231-9C= (n.231-9C=) c.456-9C= (n.456-9C=) n.613-9C= c.259-9C= (n.259-9C=) | |
16 | g.1985857C>T | CA276773465 | GFER | c.231-9C>T (n.231-9C>T) c.456-9C>T (n.456-9C>T) n.613-9C>T c.259-9C>T (n.259-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985858C= | CA2201967682 | GFER | c.231-8C= (n.231-8C=) c.456-8C= (n.456-8C=) n.613-8C= c.259-8C= (n.259-8C=) | |
16 | g.1985858C>G | CA7826066 | GFER | c.231-8C>G (n.231-8C>G) c.456-8C>G (n.456-8C>G) n.613-8C>G c.259-8C>G (n.259-8C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985859T>C | CA7826067 | GFER | c.231-7T>C (n.231-7T>C) c.456-7T>C (n.456-7T>C) n.613-7T>C c.259-7T>C (n.259-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985859T= | CA2201967684 | GFER | c.231-7T= (n.231-7T=) c.456-7T= (n.456-7T=) n.613-7T= c.259-7T= (n.259-7T=) | |
16 | g.1985860A= | CA2201967686 | GFER | c.231-6A= (n.231-6A=) c.456-6A= (n.456-6A=) n.613-6A= c.259-6A= (n.259-6A=) | |
16 | g.1985860A>G | CA620704192 | GFER | c.231-6A>G (n.231-6A>G) c.456-6A>G (n.456-6A>G) n.613-6A>G c.259-6A>G (n.259-6A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985861C= | CA2201967687 | GFER | c.231-5C= (n.231-5C=) c.456-5C= (n.456-5C=) n.613-5C= c.259-5C= (n.259-5C=) | |
16 | g.1985861C>T | CA7826068 | GFER | c.231-5C>T (n.231-5C>T) c.456-5C>T (n.456-5C>T) n.613-5C>T c.259-5C>T (n.259-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985862A>G | CA2575875469 | GFER | c.231-4A>G (n.231-4A>G) c.456-4A>G (n.456-4A>G) n.613-4A>G c.259-4A>G (n.259-4A>G) | ClinVar gnomAD v4 |
16 | g.1985864A>C | CA394303613 | GFER | c.231-2A>C (n.231-2A>C) c.456-2A>C (n.456-2A>C) n.613-2A>C c.259-2A>C (n.259-2A>C) | |
16 | g.1985864A>G | CA394303615 | GFER | c.231-2A>G (n.231-2A>G) c.456-2A>G (n.456-2A>G) n.613-2A>G c.259-2A>G (n.259-2A>G) | gnomAD v4 |
16 | g.1985864A>T | CA394303618 | GFER | c.231-2A>T (n.231-2A>T) c.456-2A>T (n.456-2A>T) n.613-2A>T c.259-2A>T (n.259-2A>T) | |
16 | g.1985865G>A | CA394303631 | GFER | c.231-1G>A (n.231-1G>A) c.456-1G>A (n.456-1G>A) n.613-1G>A c.259-1G>A (n.259-1G>A) | |
16 | g.1985865G>C | CA394303628 | GFER | c.231-1G>C (n.231-1G>C) c.456-1G>C (n.456-1G>C) n.613-1G>C c.259-1G>C (n.259-1G>C) | |
16 | g.1985865G>T | CA394303626 | GFER | c.231-1G>T (n.231-1G>T) c.456-1G>T (n.456-1G>T) n.613-1G>T c.259-1G>T (n.259-1G>T) | |
16 | g.1985866G>A | CA394303633 | GFER | c.231G>A (p.Arg77=) c.456G>A (p.Arg152=) n.613G>A c.259G>A (p.Ala87Thr) | gnomAD v4 |
16 | g.1985866G>C | CA394303635 | GFER | c.231G>C (p.Arg77Ser) c.456G>C (p.Arg152Ser) n.613G>C c.259G>C (p.Ala87Pro) | |
16 | g.1985866G>T | CA394303638 | GFER | c.231G>T (p.Arg77Ser) c.456G>T (p.Arg152Ser) n.613G>T c.259G>T (p.Ala87Ser) | gnomAD v4 |
16 | g.1985867C>A | CA394303641 | GFER | c.232C>A (p.Leu78Met) c.457C>A (p.Leu153Met) n.614C>A c.260C>A (p.Ala87Asp) | |
16 | g.1985867C= | CA2201967689 | GFER | c.232C= (p.Leu78=) c.457C= (p.Leu153=) n.614C= c.260C= (p.Ala87=) | |
16 | g.1985867C>G | CA394303642 | GFER | c.232C>G (p.Leu78Val) c.457C>G (p.Leu153Val) n.614C>G c.260C>G (p.Ala87Gly) | |
16 | g.1985867C>T | CA7826069 | GFER | c.232C>T (p.Leu78=) c.457C>T (p.Leu153=) n.614C>T c.260C>T (p.Ala87Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985868T>A | CA394303646 | GFER | c.233T>A (p.Leu78Gln) c.458T>A (p.Leu153Gln) n.615T>A c.261T>A (p.Ala87=) | |
16 | g.1985868T>C | CA394303650 | GFER | c.233T>C (p.Leu78Pro) c.458T>C (p.Leu153Pro) n.615T>C c.261T>C (p.Ala87=) | |
16 | g.1985868T>G | CA394303651 | GFER | c.233T>G (p.Leu78Arg) c.458T>G (p.Leu153Arg) n.615T>G c.261T>G (p.Ala87=) | |
16 | g.1985869G>A | CA394303654 | GFER | c.234G>A (p.Leu78=) c.459G>A (p.Leu153=) n.616G>A c.262G>A (p.Val88Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985869G>C | CA276773476 | GFER | c.234G>C (p.Leu78=) c.459G>C (p.Leu153=) n.616G>C c.262G>C (p.Val88Leu) | dbSNP |
16 | g.1985869G= | CA2201967691 | GFER | c.234G= (p.Leu78=) c.459G= (p.Leu153=) n.616G= c.262G= (p.Val88=) | |
16 | g.1985869G>T | CA394303657 | GFER | c.234G>T (p.Leu78=) c.459G>T (p.Leu153=) n.616G>T c.262G>T (p.Val88Leu) | |
16 | g.1985870T>A | CA394303664 | GFER | c.235T>A (p.Cys79Ser) c.460T>A (p.Cys154Ser) n.617T>A c.263T>A (p.Val88Glu) | |
16 | g.1985870T>C | CA394303662 | GFER | c.235T>C (p.Cys79Arg) c.460T>C (p.Cys154Arg) n.617T>C c.263T>C (p.Val88Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985870T>G | CA394303660 | GFER | c.235T>G (p.Cys79Gly) c.460T>G (p.Cys154Gly) n.617T>G c.263T>G (p.Val88Gly) | |
16 | g.1985870T= | CA2201967693 | GFER | c.235T= (p.Cys79=) c.460T= (p.Cys154=) n.617T= c.263T= (p.Val88=) | |
16 | g.1985871G>A | CA394303667 | GFER | c.236G>A (p.Cys79Tyr) c.461G>A (p.Cys154Tyr) n.618G>A c.264G>A (p.Val88=) | |
16 | g.1985871G>C | CA394303669 | GFER | c.236G>C (p.Cys79Ser) c.461G>C (p.Cys154Ser) n.618G>C c.264G>C (p.Val88=) | |
16 | g.1985871G>T | CA394303672 | GFER | c.236G>T (p.Cys79Phe) c.461G>T (p.Cys154Phe) n.618G>T c.264G>T (p.Val88=) | |
16 | g.1985872C>A | CA394303674 | GFER | c.237C>A (p.Cys79Ter) c.462C>A (p.Cys154Ter) n.619C>A c.265C>A (p.Gln89Lys) | |
16 | g.1985872C>G | CA394303677 | GFER | c.237C>G (p.Cys79Trp) c.462C>G (p.Cys154Trp) n.619C>G c.265C>G (p.Gln89Glu) | |
16 | g.1985872C>T | CA394303679 | GFER | c.237C>T (p.Cys79=) c.462C>T (p.Cys154=) n.619C>T c.265C>T (p.Gln89Ter) | gnomAD v4 |
16 | g.1985873A>C | CA394303681 | GFER | c.238A>C (p.Arg80=) c.463A>C (p.Arg155=) n.620A>C c.266A>C (p.Gln89Pro) | |
16 | g.1985873A>G | CA394303682 | GFER | c.238A>G (p.Arg80Gly) c.463A>G (p.Arg155Gly) n.620A>G c.266A>G (p.Gln89Arg) | gnomAD v4 |
16 | g.1985873A>T | CA394303685 | GFER | c.238A>T (p.Arg80Trp) c.463A>T (p.Arg155Trp) n.620A>T c.266A>T (p.Gln89Leu) | |
16 | g.1985874G>A | CA394303687 | GFER | c.239G>A (p.Arg80Lys) c.464G>A (p.Arg155Lys) n.621G>A c.267G>A (p.Gln89=) | dbSNP |
16 | g.1985874G>C | CA394303689 | GFER | c.239G>C (p.Arg80Thr) c.464G>C (p.Arg155Thr) n.621G>C c.267G>C (p.Gln89His) | |
16 | g.1985874G= | CA2201967696 | GFER | c.239G= (p.Arg80=) c.464G= (p.Arg155=) n.621G= c.267G= (p.Gln89=) | |
16 | g.1985874G>T | CA394303691 | GFER | c.239G>T (p.Arg80Met) c.464G>T (p.Arg155Met) n.621G>T c.267G>T (p.Gln89His) | |
16 | g.1985875G>A | CA394303697 | GFER | c.240G>A (p.Arg80=) c.465G>A (p.Arg155=) n.622G>A c.268G>A (p.Glu90Lys) | |
16 | g.1985875G>C | CA394303696 | GFER | c.240G>C (p.Arg80Ser) c.465G>C (p.Arg155Ser) n.622G>C c.268G>C (p.Glu90Gln) | |
16 | g.1985875G>T | CA394303693 | GFER | c.240G>T (p.Arg80Ser) c.465G>T (p.Arg155Ser) n.622G>T c.268G>T (p.Glu90Ter) | gnomAD v4 |
16 | g.1985876A>C | CA394303700 | GFER | c.241A>C (p.Asn81His) c.466A>C (p.Asn156His) n.623A>C c.269A>C (p.Glu90Ala) | |
16 | g.1985876A>G | CA394303701 | GFER | c.241A>G (p.Asn81Asp) c.466A>G (p.Asn156Asp) n.623A>G c.269A>G (p.Glu90Gly) | |
16 | g.1985876A>T | CA394303702 | GFER | c.241A>T (p.Asn81Tyr) c.466A>T (p.Asn156Tyr) n.623A>T c.269A>T (p.Glu90Val) | |
16 | g.1985877A>C | CA394303704 | GFER | c.242A>C (p.Asn81Thr) c.467A>C (p.Asn156Thr) n.624A>C c.270A>C (p.Glu90Asp) | |
16 | g.1985877A>G | CA394303706 | GFER | c.242A>G (p.Asn81Ser) c.467A>G (p.Asn156Ser) n.624A>G c.270A>G (p.Glu90=) | |
16 | g.1985877A>T | CA394303708 | GFER | c.242A>T (p.Asn81Ile) c.467A>T (p.Asn156Ile) n.624A>T c.270A>T (p.Glu90Asp) | |
16 | g.1985878C>A | CA394303715 | GFER | c.243C>A (p.Asn81Lys) c.468C>A (p.Asn156Lys) n.625C>A c.271C>A (p.Pro91Thr) | |
16 | g.1985878C= | CA2201967698 | GFER | c.243C= (p.Asn81=) c.468C= (p.Asn156=) n.625C= c.271C= (p.Pro91=) | |
16 | g.1985878C>G | CA394303713 | GFER | c.243C>G (p.Asn81Lys) c.468C>G (p.Asn156Lys) n.625C>G c.271C>G (p.Pro91Ala) | dbSNP gnomAD v2 |
16 | g.1985878C>T | CA394303710 | GFER | c.243C>T (p.Asn81=) c.468C>T (p.Asn156=) n.625C>T c.271C>T (p.Pro91Ser) | gnomAD v4 |
16 | g.1985879C>A | CA394303718 | GFER | c.244C>A (p.His82Asn) c.469C>A (p.His157Asn) n.626C>A c.272C>A (p.Pro91Gln) | |
16 | g.1985879C>G | CA394303720 | GFER | c.244C>G (p.His82Asp) c.469C>G (p.His157Asp) n.626C>G c.272C>G (p.Pro91Arg) | |
16 | g.1985879C>T | CA394303723 | GFER | c.244C>T (p.His82Tyr) c.469C>T (p.His157Tyr) n.626C>T c.272C>T (p.Pro91Leu) | |
16 | g.1985880A>C | CA394303727 | GFER | c.245A>C (p.His82Pro) c.470A>C (p.His157Pro) n.627A>C c.273A>C (p.Pro91=) | |
16 | g.1985880A>G | CA394303729 | GFER | c.245A>G (p.His82Arg) c.470A>G (p.His157Arg) n.627A>G c.273A>G (p.Pro91=) | |
16 | g.1985880A>T | CA394303732 | GFER | c.245A>T (p.His82Leu) c.470A>T (p.His157Leu) n.627A>T c.273A>T (p.Pro91=) | |
16 | g.1985881C>A | CA394303735 | GFER | c.246C>A (p.His82Gln) c.471C>A (p.His157Gln) n.628C>A c.274C>A (p.Pro92Thr) | |
16 | g.1985881C>G | CA394303739 | GFER | c.246C>G (p.His82Gln) c.471C>G (p.His157Gln) n.628C>G c.274C>G (p.Pro92Ala) | dbSNP |
16 | g.1985881C>T | CA394303738 | GFER | c.246C>T (p.His82=) c.471C>T (p.His157=) n.628C>T c.274C>T (p.Pro92Ser) | |
16 | g.1985882C>A | CA394303742 | GFER | c.247C>A (p.Pro83Thr) c.472C>A (p.Pro158Thr) n.629C>A c.275C>A (p.Pro92His) | |
16 | g.1985882C>G | CA394303744 | GFER | c.247C>G (p.Pro83Ala) c.472C>G (p.Pro158Ala) n.629C>G c.275C>G (p.Pro92Arg) | |
16 | g.1985882C>T | CA394303752 | GFER | c.247C>T (p.Pro83Ser) c.472C>T (p.Pro158Ser) n.629C>T c.275C>T (p.Pro92Leu) | |
16 | g.1985883C>A | CA394303755 | GFER | c.248C>A (p.Pro83Gln) c.473C>A (p.Pro158Gln) n.630C>A c.276C>A (p.Pro92=) | |
16 | g.1985883C>G | CA394303758 | GFER | c.248C>G (p.Pro83Arg) c.473C>G (p.Pro158Arg) n.630C>G c.276C>G (p.Pro92=) | |
16 | g.1985883C>T | CA394303762 | GFER | c.248C>T (p.Pro83Leu) c.473C>T (p.Pro158Leu) n.630C>T c.276C>T (p.Pro92=) | |
16 | g.1985884A>C | CA492950125 | GFER | c.249A>C (p.Pro83=) c.474A>C (p.Pro158=) n.631A>C c.277A>C (p.Arg93=) | |
16 | g.1985884A>G | CA394303765 | GFER | c.249A>G (p.Pro83=) c.474A>G (p.Pro158=) n.631A>G c.277A>G (p.Arg93Gly) | |
16 | g.1985884A>T | CA394303767 | GFER | c.249A>T (p.Pro83=) c.474A>T (p.Pro158=) n.631A>T c.277A>T (p.Arg93Ter) | |
16 | g.1985885G>A | CA394303770 | GFER | c.250G>A (p.Asp84Asn) c.475G>A (p.Asp159Asn) n.632G>A c.278G>A (p.Arg93Lys) | |
16 | g.1985885G>C | CA394303773 | GFER | c.250G>C (p.Asp84His) c.475G>C (p.Asp159His) n.632G>C c.278G>C (p.Arg93Thr) | |
16 | g.1985885G>T | CA394303775 | GFER | c.250G>T (p.Asp84Tyr) c.475G>T (p.Asp159Tyr) n.632G>T c.278G>T (p.Arg93Ile) | |
16 | g.1985886A>C | CA394303784 | GFER | c.251A>C (p.Asp84Ala) c.476A>C (p.Asp159Ala) n.633A>C c.279A>C (p.Arg93Ser) | |
16 | g.1985886A>G | CA394303789 | GFER | c.251A>G (p.Asp84Gly) c.476A>G (p.Asp159Gly) n.633A>G c.279A>G (p.Arg93=) | |
16 | g.1985886A>T | CA394303786 | GFER | c.251A>T (p.Asp84Val) c.476A>T (p.Asp159Val) n.633A>T c.279A>T (p.Arg93Ser) | |
16 | g.1985887C>A | CA394303791 | GFER | c.252C>A (p.Asp84Glu) c.477C>A (p.Asp159Glu) n.634C>A c.280C>A (p.His94Asn) | dbSNP |
16 | g.1985887C= | CA2201967702 | GFER | c.252C= (p.Asp84=) c.477C= (p.Asp159=) n.634C= c.280C= (p.His94=) | |
16 | g.1985887C>G | CA394303793 | GFER | c.252C>G (p.Asp84Glu) c.477C>G (p.Asp159Glu) n.634C>G c.280C>G (p.His94Asp) | |
16 | g.1985887C>T | CA394303795 | GFER | c.252C>T (p.Asp84=) c.477C>T (p.Asp159=) n.634C>T c.280C>T (p.His94Tyr) | ClinVar dbSNP |
16 | g.1985888A>C | CA394303799 | GFER | c.253A>C (p.Thr85Pro) c.478A>C (p.Thr160Pro) n.635A>C c.281A>C (p.His94Pro) | |
16 | g.1985888A>G | CA394303806 | GFER | c.253A>G (p.Thr85Ala) c.478A>G (p.Thr160Ala) n.635A>G c.281A>G (p.His94Arg) | |
16 | g.1985888A>T | CA394303807 | GFER | c.253A>T (p.Thr85Ser) c.478A>T (p.Thr160Ser) n.635A>T c.281A>T (p.His94Leu) | |
16 | g.1985889C>A | CA394303809 | GFER | c.254C>A (p.Thr85Asn) c.479C>A (p.Thr160Asn) n.636C>A c.282C>A (p.His94Gln) | |
16 | g.1985889C>G | CA394303810 | GFER | c.254C>G (p.Thr85Ser) c.479C>G (p.Thr160Ser) n.636C>G c.282C>G (p.His94Gln) | |
16 | g.1985889C>T | CA394303813 | GFER | c.254C>T (p.Thr85Ile) c.479C>T (p.Thr160Ile) n.636C>T c.282C>T (p.His94=) | |
16 | g.1985890C>A | CA394303818 | GFER | c.255C>A (p.Thr85=) c.480C>A (p.Thr160=) n.637C>A c.283C>A (p.Pro95Thr) | |
16 | g.1985890C>G | CA394303822 | GFER | c.255C>G (p.Thr85=) c.480C>G (p.Thr160=) n.637C>G c.283C>G (p.Pro95Ala) | |
16 | g.1985890C>T | CA394303831 | GFER | c.255C>T (p.Thr85=) c.480C>T (p.Thr160=) n.637C>T c.283C>T (p.Pro95Ser) | |
16 | g.1985891C>A | CA394303837 | GFER | c.256C>A (p.Arg86Ser) c.481C>A (p.Arg161Ser) n.638C>A c.284C>A (p.Pro95Gln) | gnomAD v4 |
16 | g.1985891C= | CA2201967705 | GFER | c.256C= (p.Arg86=) c.481C= (p.Arg161=) n.638C= c.284C= (p.Pro95=) | |
16 | g.1985891C>G | CA394303834 | GFER | c.256C>G (p.Arg86Gly) c.481C>G (p.Arg161Gly) n.638C>G c.284C>G (p.Pro95Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985891C>T | CA7826070 | GFER | c.256C>T (p.Arg86Cys) c.481C>T (p.Arg161Cys) n.638C>T c.284C>T (p.Pro95Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985892G>A | CA7826071 | GFER | c.257G>A (p.Arg86His) c.482G>A (p.Arg161His) n.639G>A c.285G>A (p.Pro95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985892G>C | CA394303843 | GFER | c.257G>C (p.Arg86Pro) c.482G>C (p.Arg161Pro) n.639G>C c.285G>C (p.Pro95=) | dbSNP |
16 | g.1985892G= | CA2201967707 | GFER | c.257G= (p.Arg86=) c.482G= (p.Arg161=) n.639G= c.285G= (p.Pro95=) | |
16 | g.1985892G>T | CA394303845 | GFER | c.257G>T (p.Arg86Leu) c.482G>T (p.Arg161Leu) n.639G>T c.285G>T (p.Pro95=) | |
16 | g.1985893C>A | CA394303846 | GFER | c.258C>A (p.Arg86=) c.483C>A (p.Arg161=) n.640C>A c.286C>A (p.His96Asn) | |
16 | g.1985893C>G | CA394303848 | GFER | c.258C>G (p.Arg86=) c.483C>G (p.Arg161=) n.640C>G c.286C>G (p.His96Asp) | |
16 | g.1985893C>T | CA394303850 | GFER | c.258C>T (p.Arg86=) c.483C>T (p.Arg161=) n.640C>T c.286C>T (p.His96Tyr) | gnomAD v4 |
16 | g.1985894A= | CA2201967709 | GFER | c.259A= (p.Thr87=) c.484A= (p.Thr162=) n.641A= c.287A= (p.His96=) | |
16 | g.1985894A>C | CA394303853 | GFER | c.259A>C (p.Thr87Pro) c.484A>C (p.Thr162Pro) n.641A>C c.287A>C (p.His96Pro) | |
16 | g.1985894A>G | CA394303855 | GFER | c.259A>G (p.Thr87Ala) c.484A>G (p.Thr162Ala) n.641A>G c.287A>G (p.His96Arg) | dbSNP |
16 | g.1985894A>T | CA394303857 | GFER | c.259A>T (p.Thr87Ser) c.484A>T (p.Thr162Ser) n.641A>T c.287A>T (p.His96Leu) | gnomAD v4 |
16 | g.1985895C>A | CA394303859 | GFER | c.260C>A (p.Thr87Asn) c.485C>A (p.Thr162Asn) n.642C>A c.288C>A (p.His96Gln) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985895C= | CA2201967710 | GFER | c.260C= (p.Thr87=) c.485C= (p.Thr162=) n.642C= c.288C= (p.His96=) | |
16 | g.1985895C>G | CA394303862 | GFER | c.260C>G (p.Thr87Ser) c.485C>G (p.Thr162Ser) n.642C>G c.288C>G (p.His96Gln) | |
16 | g.1985895C>T | CA394303864 | GFER | c.260C>T (p.Thr87Ile) c.485C>T (p.Thr162Ile) n.642C>T c.288C>T (p.His96=) | COSMIC |
16 | g.1985896C>A | CA394303871 | GFER | c.261C>A (p.Thr87=) c.486C>A (p.Thr162=) n.643C>A c.289C>A (p.Pro97Thr) | |
16 | g.1985896C= | CA2201967712 | GFER | c.261C= (p.Thr87=) c.486C= (p.Thr162=) n.643C= c.289C= (p.Pro97=) | |
16 | g.1985896C>G | CA394303873 | GFER | c.261C>G (p.Thr87=) c.486C>G (p.Thr162=) n.643C>G c.289C>G (p.Pro97Ala) | |
16 | g.1985896C>T | CA394303869 | GFER | c.261C>T (p.Thr87=) c.486C>T (p.Thr162=) n.643C>T c.289C>T (p.Pro97Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985897C>A | CA394303877 | GFER | c.262C>A (p.Arg88=) c.487C>A (p.Arg163=) n.644C>A c.290C>A (p.Pro97Gln) | gnomAD v4 |
16 | g.1985897C= | CA2201967713 | GFER | c.262C= (p.Arg88=) c.487C= (p.Arg163=) n.644C= c.290C= (p.Pro97=) | |
16 | g.1985897C>G | CA394303875 | GFER | c.262C>G (p.Arg88Gly) c.487C>G (p.Arg163Gly) n.644C>G c.290C>G (p.Pro97Arg) | gnomAD v4 |
16 | g.1985897C>T | CA7826072 | GFER | c.262C>T (p.Arg88Trp) c.487C>T (p.Arg163Trp) n.644C>T c.290C>T (p.Pro97Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.1985898G>A | CA7826073 | GFER | c.263G>A (p.Arg88Gln) c.488G>A (p.Arg163Gln) n.645G>A c.291G>A (p.Pro97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985898G>C | CA394303883 | GFER | c.263G>C (p.Arg88Pro) c.488G>C (p.Arg163Pro) n.645G>C c.291G>C (p.Pro97=) | gnomAD v4 |
16 | g.1985898G= | CA2201967715 | GFER | c.263G= (p.Arg88=) c.488G= (p.Arg163=) n.645G= c.291G= (p.Pro97=) | |
16 | g.1985898G>T | CA394303889 | GFER | c.263G>T (p.Arg88Leu) c.488G>T (p.Arg163Leu) n.645G>T c.291G>T (p.Pro97=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985899G>A | CA394303900 | GFER | c.264G>A (p.Arg88=) c.489G>A (p.Arg163=) n.646G>A c.292G>A (p.Gly98Ser) | |
16 | g.1985899G>C | CA394303896 | GFER | c.264G>C (p.Arg88=) c.489G>C (p.Arg163=) n.646G>C c.292G>C (p.Gly98Arg) | |
16 | g.1985899G>T | CA394303894 | GFER | c.264G>T (p.Arg88=) c.489G>T (p.Arg163=) n.646G>T c.292G>T (p.Gly98Cys) | |
16 | g.1985900G>A | CA394303906 | GFER | c.265G>A (p.Ala89Thr) c.490G>A (p.Ala164Thr) n.647G>A c.293G>A (p.Gly98Asp) | |
16 | g.1985900G>C | CA394303908 | GFER | c.265G>C (p.Ala89Pro) c.490G>C (p.Ala164Pro) n.647G>C c.293G>C (p.Gly98Ala) | |
16 | g.1985900G>T | CA394303910 | GFER | c.265G>T (p.Ala89Ser) c.490G>T (p.Ala164Ser) n.647G>T c.293G>T (p.Gly98Val) | |
16 | g.1985901C>A | CA394303911 | GFER | c.266C>A (p.Ala89Glu) c.491C>A (p.Ala164Glu) n.648C>A c.294C>A (p.Gly98=) | |
16 | g.1985901C= | CA2201967717 | GFER | c.266C= (p.Ala89=) c.491C= (p.Ala164=) n.648C= c.294C= (p.Gly98=) | |
16 | g.1985901C>G | CA394303913 | GFER | c.266C>G (p.Ala89Gly) c.491C>G (p.Ala164Gly) n.648C>G c.294C>G (p.Gly98=) | |
16 | g.1985901C>T | CA394303917 | GFER | c.266C>T (p.Ala89Val) c.491C>T (p.Ala164Val) n.648C>T c.294C>T (p.Gly98=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985902A>C | CA394303926 | GFER | c.267A>C (p.Ala89=) c.492A>C (p.Ala164=) n.649A>C c.295A>C (p.Met99Leu) | dbSNP |
16 | g.1985902A>G | CA394303919 | GFER | c.267A>G (p.Ala89=) c.492A>G (p.Ala164=) n.649A>G c.295A>G (p.Met99Val) | |
16 | g.1985902A>T | CA394303921 | GFER | c.267A>T (p.Ala89=) c.492A>T (p.Ala164=) n.649A>T c.295A>T (p.Met99Leu) | |
16 | g.1985903T>A | CA394303928 | GFER | c.268T>A (p.Cys90Ser) c.493T>A (p.Cys165Ser) n.650T>A c.296T>A (p.Met99Lys) | |
16 | g.1985903T>C | CA394303930 | GFER | c.268T>C (p.Cys90Arg) c.493T>C (p.Cys165Arg) n.650T>C c.296T>C (p.Met99Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985903T>G | CA394303932 | GFER | c.268T>G (p.Cys90Gly) c.493T>G (p.Cys165Gly) n.650T>G c.296T>G (p.Met99Arg) | |
16 | g.1985903T= | CA2201967719 | GFER | c.268T= (p.Cys90=) c.493T= (p.Cys165=) n.650T= c.296T= (p.Met99=) | |
16 | g.1985904G>A | CA394303938 | GFER | c.269G>A (p.Cys90Tyr) c.494G>A (p.Cys165Tyr) n.651G>A c.297G>A (p.Met99Ile) | |
16 | g.1985904G>C | CA394303940 | GFER | c.269G>C (p.Cys90Ser) c.494G>C (p.Cys165Ser) n.651G>C c.297G>C (p.Met99Ile) | |
16 | g.1985904G>T | CA394303943 | GFER | c.269G>T (p.Cys90Phe) c.494G>T (p.Cys165Phe) n.651G>T c.297G>T (p.Met99Ile) | |
16 | g.1985905C>A | CA394303947 | GFER | c.270C>A (p.Cys90Ter) c.495C>A (p.Cys165Ter) n.652C>A c.298C>A (p.Leu100Ile) | |
16 | g.1985905C= | CA2201967721 | GFER | c.270C= (p.Cys90=) c.495C= (p.Cys165=) n.652C= c.298C= (p.Leu100=) | |
16 | g.1985905C>G | CA394303948 | GFER | c.270C>G (p.Cys90Trp) c.495C>G (p.Cys165Trp) n.652C>G c.298C>G (p.Leu100Val) | |
16 | g.1985905C>T | CA394303950 | GFER | c.270C>T (p.Cys90=) c.495C>T (p.Cys165=) n.652C>T c.298C>T (p.Leu100Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985906T>A | CA394303952 | GFER | c.271T>A (p.Phe91Ile) c.496T>A (p.Phe166Ile) n.653T>A c.299T>A (p.Leu100His) | |
16 | g.1985906T>C | CA7826074 | GFER | c.271T>C (p.Phe91Leu) c.496T>C (p.Phe166Leu) n.653T>C c.299T>C (p.Leu100Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985906T>G | CA394303957 | GFER | c.271T>G (p.Phe91Val) c.496T>G (p.Phe166Val) n.653T>G c.299T>G (p.Leu100Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985906T= | CA2201967723 | GFER | c.271T= (p.Phe91=) c.496T= (p.Phe166=) n.653T= c.299T= (p.Leu100=) | |
16 | g.1985907T>A | CA394303958 | GFER | c.272T>A (p.Phe91Tyr) c.497T>A (p.Phe166Tyr) n.654T>A c.300T>A (p.Leu100=) | |
16 | g.1985907T>C | CA394303960 | GFER | c.272T>C (p.Phe91Ser) c.497T>C (p.Phe166Ser) n.654T>C c.300T>C (p.Leu100=) | |
16 | g.1985907T>G | CA394303959 | GFER | c.272T>G (p.Phe91Cys) c.497T>G (p.Phe166Cys) n.654T>G c.300T>G (p.Leu100=) | |
16 | g.1985908C>A | CA394303962 | GFER | c.273C>A (p.Phe91Leu) c.498C>A (p.Phe166Leu) n.655C>A c.301C>A (p.His101Asn) | |
16 | g.1985908C>G | CA394303964 | GFER | c.273C>G (p.Phe91Leu) c.498C>G (p.Phe166Leu) n.655C>G c.301C>G (p.His101Asp) | |
16 | g.1985908C>T | CA394303966 | GFER | c.273C>T (p.Phe91=) c.498C>T (p.Phe166=) n.655C>T c.301C>T (p.His101Tyr) | |
16 | g.1985909A>C | CA394303968 | GFER | c.274A>C (p.Thr92Pro) c.499A>C (p.Thr167Pro) n.656A>C c.302A>C (p.His101Pro) | |
16 | g.1985909A>G | CA394303970 | GFER | c.274A>G (p.Thr92Ala) c.499A>G (p.Thr167Ala) n.656A>G c.302A>G (p.His101Arg) | |
16 | g.1985909A>T | CA394303972 | GFER | c.274A>T (p.Thr92Ser) c.499A>T (p.Thr167Ser) n.656A>T c.302A>T (p.His101Leu) | |
16 | g.1985909dup | CA2631092443 | GFER | c.274dup (p.Thr92AsnfsTer10) c.499dup (p.Thr167AsnfsTer10) n.656dup c.302dup (p.His101GlnfsTer12) | gnomAD v4 |
16 | g.1985910C>A | CA394303974 | GFER | c.275C>A (p.Thr92Lys) c.500C>A (p.Thr167Lys) n.657C>A c.303C>A (p.His101Gln) | |
16 | g.1985910C= | CA2201967726 | GFER | c.275C= (p.Thr92=) c.500C= (p.Thr167=) n.657C= c.303C= (p.His101=) | |
16 | g.1985910C>G | CA394303975 | GFER | c.275C>G (p.Thr92Arg) c.500C>G (p.Thr167Arg) n.657C>G c.303C>G (p.His101Gln) | |
16 | g.1985910C>T | CA394303976 | GFER | c.275C>T (p.Thr92Ile) c.500C>T (p.Thr167Ile) n.657C>T c.303C>T (p.His101=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985911A= | CA2201967727 | GFER | c.276A= (p.Thr92=) c.501A= (p.Thr167=) n.658A= c.304A= (p.Thr102=) | |
16 | g.1985911A>C | CA394303979 | GFER | c.276A>C (p.Thr92=) c.501A>C (p.Thr167=) n.658A>C c.304A>C (p.Thr102Pro) | gnomAD v4 |
16 | g.1985911A>G | CA394303980 | GFER | c.276A>G (p.Thr92=) c.501A>G (p.Thr167=) n.658A>G c.304A>G (p.Thr102Ala) | ClinVar dbSNP |
16 | g.1985911A>T | CA394303981 | GFER | c.276A>T (p.Thr92=) c.501A>T (p.Thr167=) n.658A>T c.304A>T (p.Thr102Ser) | |
16 | g.1985912C>A | CA394303986 | GFER | c.277C>A (p.Gln93Lys) c.502C>A (p.Gln168Lys) n.659C>A c.305C>A (p.Thr102Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985912C= | CA2201967729 | GFER | c.277C= (p.Gln93=) c.502C= (p.Gln168=) n.659C= c.305C= (p.Thr102=) | |
16 | g.1985912C>G | CA394303984 | GFER | c.277C>G (p.Gln93Glu) c.502C>G (p.Gln168Glu) n.659C>G c.305C>G (p.Thr102Arg) | |
16 | g.1985912C>T | CA7826075 | GFER | c.277C>T (p.Gln93Ter) c.502C>T (p.Gln168Ter) n.659C>T c.305C>T (p.Thr102Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985913A>C | CA394303988 | GFER | c.278A>C (p.Gln93Pro) c.503A>C (p.Gln168Pro) n.660A>C c.306A>C (p.Thr102=) | |
16 | g.1985913A>G | CA394303990 | GFER | c.278A>G (p.Gln93Arg) c.503A>G (p.Gln168Arg) n.660A>G c.306A>G (p.Thr102=) | |
16 | g.1985913A>T | CA394303992 | GFER | c.278A>T (p.Gln93Leu) c.503A>T (p.Gln168Leu) n.660A>T c.306A>T (p.Thr102=) | |
16 | g.1985914G>A | CA394303993 | GFER | c.279G>A (p.Gln93=) c.504G>A (p.Gln168=) n.661G>A c.307G>A (p.Val103Met) | gnomAD v4 |
16 | g.1985914G>C | CA394303994 | GFER | c.279G>C (p.Gln93His) c.504G>C (p.Gln168His) n.661G>C c.307G>C (p.Val103Leu) | gnomAD v4 |
16 | g.1985914G>T | CA394303997 | GFER | c.279G>T (p.Gln93His) c.504G>T (p.Gln168His) n.661G>T c.307G>T (p.Val103Leu) | gnomAD v4 |
16 | g.1985915T>A | CA394303999 | GFER | c.280T>A (p.Trp94Arg) c.505T>A (p.Trp169Arg) n.662T>A c.308T>A (p.Val103Glu) | |
16 | g.1985915T>C | CA394304001 | GFER | c.280T>C (p.Trp94Arg) c.505T>C (p.Trp169Arg) n.662T>C c.308T>C (p.Val103Ala) | gnomAD v4 |
16 | g.1985915T>G | CA394304003 | GFER | c.280T>G (p.Trp94Gly) c.505T>G (p.Trp169Gly) n.662T>G c.308T>G (p.Val103Gly) | |
16 | g.1985916G>A | CA394304006 | GFER | c.281G>A (p.Trp94Ter) c.506G>A (p.Trp169Ter) n.663G>A c.309G>A (p.Val103=) | COSMIC |
16 | g.1985916G>C | CA394304008 | GFER | c.281G>C (p.Trp94Ser) c.506G>C (p.Trp169Ser) n.663G>C c.309G>C (p.Val103=) | gnomAD v4 |
16 | g.1985916G>T | CA394304010 | GFER | c.281G>T (p.Trp94Leu) c.506G>T (p.Trp169Leu) n.663G>T c.309G>T (p.Val103=) | |
16 | g.1985917G>A | CA394304013 | GFER | c.282G>A (p.Trp94Ter) c.507G>A (p.Trp169Ter) n.664G>A c.310G>A (p.Ala104Thr) | gnomAD v4 |
16 | g.1985917G>C | CA394304015 | GFER | c.282G>C (p.Trp94Cys) c.507G>C (p.Trp169Cys) n.664G>C c.310G>C (p.Ala104Pro) | |
16 | g.1985917G>T | CA394304011 | GFER | c.282G>T (p.Trp94Cys) c.507G>T (p.Trp169Cys) n.664G>T c.310G>T (p.Ala104Ser) | |
16 | g.1985918C>A | CA394304019 | GFER | c.283C>A (p.Leu95Met) c.508C>A (p.Leu170Met) n.665C>A c.311C>A (p.Ala104Asp) | |
16 | g.1985918C>G | CA394304017 | GFER | c.283C>G (p.Leu95Val) c.508C>G (p.Leu170Val) n.665C>G c.311C>G (p.Ala104Gly) | |
16 | g.1985918C>T | CA394304020 | GFER | c.283C>T (p.Leu95=) c.508C>T (p.Leu170=) n.665C>T c.311C>T (p.Ala104Val) | gnomAD v4 |
16 | g.1985919T>A | CA394304022 | GFER | c.284T>A (p.Leu95Gln) c.509T>A (p.Leu170Gln) n.666T>A c.312T>A (p.Ala104=) | |
16 | g.1985919T>C | CA394304023 | GFER | c.284T>C (p.Leu95Pro) c.509T>C (p.Leu170Pro) n.666T>C c.312T>C (p.Ala104=) | |
16 | g.1985919T>G | CA394304024 | GFER | c.284T>G (p.Leu95Arg) c.509T>G (p.Leu170Arg) n.666T>G c.312T>G (p.Ala104=) | |
16 | g.1985920G>A | CA394304025 | GFER | c.285G>A (p.Leu95=) c.510G>A (p.Leu170=) n.667G>A c.313G>A (p.Val105Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985920G>C | CA394304027 | GFER | c.285G>C (p.Leu95=) c.510G>C (p.Leu170=) n.667G>C c.313G>C (p.Val105Leu) | ClinVar dbSNP |
16 | g.1985920G= | CA2201967732 | GFER | c.285G= (p.Leu95=) c.510G= (p.Leu170=) n.667G= c.313G= (p.Val105=) | |
16 | g.1985920G>T | CA394304029 | GFER | c.285G>T (p.Leu95=) c.510G>T (p.Leu170=) n.667G>T c.313G>T (p.Val105Leu) | gnomAD v4 |
16 | g.1985921T>A | CA394304031 | GFER | c.286T>A (p.Cys96Ser) c.511T>A (p.Cys171Ser) n.668T>A c.314T>A (p.Val105Glu) | |
16 | g.1985921T>C | CA394304032 | GFER | c.286T>C (p.Cys96Arg) c.511T>C (p.Cys171Arg) n.668T>C c.314T>C (p.Val105Ala) | |
16 | g.1985921T>G | CA276773488 | GFER | c.286T>G (p.Cys96Gly) c.511T>G (p.Cys171Gly) n.668T>G c.314T>G (p.Val105Gly) | dbSNP |
16 | g.1985921T= | CA2201967735 | GFER | c.286T= (p.Cys96=) c.511T= (p.Cys171=) n.668T= c.314T= (p.Val105=) | |
16 | g.1985922G>A | CA394304034 | GFER | c.287G>A (p.Cys96Tyr) c.512G>A (p.Cys171Tyr) n.669G>A c.315G>A (p.Val105=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985922G>C | CA394304036 | GFER | c.287G>C (p.Cys96Ser) c.512G>C (p.Cys171Ser) n.669G>C c.315G>C (p.Val105=) | |
16 | g.1985922G= | CA2201967737 | GFER | c.287G= (p.Cys96=) c.512G= (p.Cys171=) n.669G= c.315G= (p.Val105=) | |
16 | g.1985922G>T | CA394304038 | GFER | c.287G>T (p.Cys96Phe) c.512G>T (p.Cys171Phe) n.669G>T c.315G>T (p.Val105=) | |
16 | g.1985923C>A | CA394304044 | GFER | c.288C>A (p.Cys96Ter) c.513C>A (p.Cys171Ter) n.670C>A c.316C>A (p.Pro106Thr) | |
16 | g.1985923C>G | CA394304042 | GFER | c.288C>G (p.Cys96Trp) c.513C>G (p.Cys171Trp) n.670C>G c.316C>G (p.Pro106Ala) | |
16 | g.1985923C>T | CA394304039 | GFER | c.288C>T (p.Cys96=) c.513C>T (p.Cys171=) n.670C>T c.316C>T (p.Pro106Ser) | |
16 | g.1985924C>A | CA322208 | GFER | c.289C>A (p.His97Asn) c.514C>A (p.His172Asn) n.671C>A c.317C>A (p.Pro106Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985924C= | CA2201967739 | GFER | c.289C= (p.His97=) c.514C= (p.His172=) n.671C= c.317C= (p.Pro106=) | |
16 | g.1985924C>G | CA394304047 | GFER | c.289C>G (p.His97Asp) c.514C>G (p.His172Asp) n.671C>G c.317C>G (p.Pro106Arg) | |
16 | g.1985924C>T | CA394304049 | GFER | c.289C>T (p.His97Tyr) c.514C>T (p.His172Tyr) n.671C>T c.317C>T (p.Pro106Leu) | |
16 | g.1985925A= | CA2201967741 | GFER | c.290A= (p.His97=) c.515A= (p.His172=) n.672A= c.318A= (p.Pro106=) | |
16 | g.1985925A>C | CA394304050 | GFER | c.290A>C (p.His97Pro) c.515A>C (p.His172Pro) n.672A>C c.318A>C (p.Pro106=) | dbSNP |
16 | g.1985925A>G | CA394304053 | GFER | c.290A>G (p.His97Arg) c.515A>G (p.His172Arg) n.672A>G c.318A>G (p.Pro106=) | |
16 | g.1985925A>T | CA394304055 | GFER | c.290A>T (p.His97Leu) c.515A>T (p.His172Leu) n.672A>T c.318A>T (p.Pro106=) | |
16 | g.1985926C>A | CA394304056 | GFER | c.291C>A (p.His97Gln) c.516C>A (p.His172Gln) n.673C>A c.319C>A (p.Pro107Thr) | |
16 | g.1985926C= | CA2201967743 | GFER | c.291C= (p.His97=) c.516C= (p.His172=) n.673C= c.319C= (p.Pro107=) | |
16 | g.1985926C>G | CA394304061 | GFER | c.291C>G (p.His97Gln) c.516C>G (p.His172Gln) n.673C>G c.319C>G (p.Pro107Ala) | |
16 | g.1985926C>T | CA7826076 | GFER | c.291C>T (p.His97=) c.516C>T (p.His172=) n.673C>T c.319C>T (p.Pro107Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985927C>A | CA394304064 | GFER | c.292C>A (p.Leu98Met) c.517C>A (p.Leu173Met) n.674C>A c.320C>A (p.Pro107His) | |
16 | g.1985927C= | CA2201967744 | GFER | c.292C= (p.Leu98=) c.517C= (p.Leu173=) n.674C= c.320C= (p.Pro107=) | |
16 | g.1985927C>G | CA276773501 | GFER | c.292C>G (p.Leu98Val) c.517C>G (p.Leu173Val) n.674C>G c.320C>G (p.Pro107Arg) | dbSNP |
16 | g.1985927C>T | CA394304068 | GFER | c.292C>T (p.Leu98=) c.517C>T (p.Leu173=) n.674C>T c.320C>T (p.Pro107Leu) | |
16 | g.1985928T>A | CA394304072 | GFER | c.293T>A (p.Leu98Gln) c.518T>A (p.Leu173Gln) n.675T>A c.321T>A (p.Pro107=) | COSMIC |
16 | g.1985928T>C | CA394304070 | GFER | c.293T>C (p.Leu98Pro) c.518T>C (p.Leu173Pro) n.675T>C c.321T>C (p.Pro107=) | |
16 | g.1985928T>G | CA394304069 | GFER | c.293T>G (p.Leu98Arg) c.518T>G (p.Leu173Arg) n.675T>G c.321T>G (p.Pro107=) | |
16 | g.1985929G>A | CA394304078 | GFER | c.294G>A (p.Leu98=) c.519G>A (p.Leu173=) n.676G>A c.322G>A (p.Ala108Thr) | gnomAD v4 |
16 | g.1985929G>C | CA394304080 | GFER | c.294G>C (p.Leu98=) c.519G>C (p.Leu173=) n.676G>C c.322G>C (p.Ala108Pro) | dbSNP gnomAD v4 |
16 | g.1985929G= | CA2201967746 | GFER | c.294G= (p.Leu98=) c.519G= (p.Leu173=) n.676G= c.322G= (p.Ala108=) | |
16 | g.1985929G>T | CA394304090 | GFER | c.294G>T (p.Leu98=) c.519G>T (p.Leu173=) n.676G>T c.322G>T (p.Ala108Ser) | |
16 | g.1985930C>A | CA394304093 | GFER | c.295C>A (p.His99Asn) c.520C>A (p.His174Asn) n.677C>A c.323C>A (p.Ala108Glu) | |
16 | g.1985930C= | CA2201967748 | GFER | c.295C= (p.His99=) c.520C= (p.His174=) n.677C= c.323C= (p.Ala108=) | |
16 | g.1985930C>G | CA7826077 | GFER | c.295C>G (p.His99Asp) c.520C>G (p.His174Asp) n.677C>G c.323C>G (p.Ala108Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985930C>T | CA394304103 | GFER | c.295C>T (p.His99Tyr) c.520C>T (p.His174Tyr) n.677C>T c.323C>T (p.Ala108Val) | gnomAD v4 |
16 | g.1985931A= | CA2201967750 | GFER | c.296A= (p.His99=) c.521A= (p.His174=) n.678A= c.324A= (p.Ala108=) | |
16 | g.1985931A>C | CA394304111 | GFER | c.296A>C (p.His99Pro) c.521A>C (p.His174Pro) n.678A>C c.324A>C (p.Ala108=) | |
16 | g.1985931A>G | CA394304109 | GFER | c.296A>G (p.His99Arg) c.521A>G (p.His174Arg) n.678A>G c.324A>G (p.Ala108=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1985931A>T | CA394304107 | GFER | c.296A>T (p.His99Leu) c.521A>T (p.His174Leu) n.678A>T c.324A>T (p.Ala108=) | |
16 | g.1985932C>A | CA394304112 | GFER | c.297C>A (p.His99Gln) c.522C>A (p.His174Gln) n.679C>A c.325C>A (p.Gln109Lys) | |
16 | g.1985932C= | CA2201967751 | GFER | c.297C= (p.His99=) c.522C= (p.His174=) n.679C= c.325C= (p.Gln109=) | |
16 | g.1985932C>G | CA394304115 | GFER | c.297C>G (p.His99Gln) c.522C>G (p.His174Gln) n.679C>G c.325C>G (p.Gln109Glu) | |
16 | g.1985932C>T | CA7826078 | GFER | c.297C>T (p.His99=) c.522C>T (p.His174=) n.679C>T c.325C>T (p.Gln109Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985933A= | CA2201967753 | GFER | c.298A= (p.Asn100=) c.523A= (p.Asn175=) n.680A= c.326A= (p.Gln109=) | |
16 | g.1985933A>C | CA394304121 | GFER | c.298A>C (p.Asn100His) c.523A>C (p.Asn175His) n.680A>C c.326A>C (p.Gln109Pro) | |
16 | g.1985933A>G | CA394304133 | GFER | c.298A>G (p.Asn100Asp) c.523A>G (p.Asn175Asp) n.680A>G c.326A>G (p.Gln109Arg) | dbSNP gnomAD v4 |
16 | g.1985933A>T | CA394304136 | GFER | c.298A>T (p.Asn100Tyr) c.523A>T (p.Asn175Tyr) n.680A>T c.326A>T (p.Gln109Leu) | |
16 | g.1985934A= | CA2201967755 | GFER | c.299A= (p.Asn100=) c.524A= (p.Asn175=) n.681A= c.327A= (p.Gln109=) | |
16 | g.1985934A>C | CA394304138 | GFER | c.299A>C (p.Asn100Thr) c.524A>C (p.Asn175Thr) n.681A>C c.327A>C (p.Gln109His) | |
16 | g.1985934A>G | CA7826079 | GFER | c.299A>G (p.Asn100Ser) c.524A>G (p.Asn175Ser) n.681A>G c.327A>G (p.Gln109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.1985934A>T | CA394304141 | GFER | c.299A>T (p.Asn100Ile) c.524A>T (p.Asn175Ile) n.681A>T c.327A>T (p.Gln109His) | |
16 | g.1985935T>A | CA394304151 | GFER | c.300T>A (p.Asn100Lys) c.525T>A (p.Asn175Lys) n.682T>A c.328T>A (p.Ter110Arg) | |
16 | g.1985935T>C | CA394304152 | GFER | c.300T>C (p.Asn100=) c.525T>C (p.Asn175=) n.682T>C c.328T>C (p.Ter110Arg) | gnomAD v4 |
16 | g.1985935T>G | CA394304155 | GFER | c.300T>G (p.Asn100Lys) c.525T>G (p.Asn175Lys) n.682T>G c.328T>G (p.Ter110Gly) | |
16 | g.1985936G>A | CA394304158 | GFER | c.301G>A (p.Glu101Lys) c.526G>A (p.Glu176Lys) n.683G>A c.329G>A (p.Ter110=) | |
16 | g.1985936G>C | CA394304159 | GFER | c.301G>C (p.Glu101Gln) c.526G>C (p.Glu176Gln) n.683G>C c.329G>C (p.Ter110Ser) | |
16 | g.1985936G= | CA2201967756 | GFER | c.301G= (p.Glu101=) c.526G= (p.Glu176=) n.683G= c.329G= (p.Ter110=) | |
16 | g.1985936G>T | CA7826080 | GFER | c.301G>T (p.Glu101Ter) c.526G>T (p.Glu176Ter) n.683G>T c.329G>T (p.Ter110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1985937A= | CA2201967758 | GFER | c.302A= (p.Glu101=) c.527A= (p.Glu176=) n.684A= c.330A= (p.Ter110=) | |
16 | g.1985937A>C | CA394304166 | GFER | c.302A>C (p.Glu101Ala) c.527A>C (p.Glu176Ala) n.684A>C c.330A>C (p.Ter110Cys) | |
16 | g.1985937A>G | CA394304168 | GFER | c.302A>G (p.Glu101Gly) c.527A>G (p.Glu176Gly) n.684A>G c.330A>G (p.Ter110Trp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.1985937A>T | CA394304171 | GFER | c.302A>T (p.Glu101Val) c.527A>T (p.Glu176Val) n.684A>T c.330A>T (p.Ter110Cys) | |
16 | g.1985938A= | CA2201967759 | GFER | c.303A= (p.Glu101=) c.528A= (p.Glu176=) n.685A= c.*1A= (n.*1A=) | |
16 | g.1985938A>C | CA276773510 | GFER | c.303A>C (p.Glu101Asp) c.528A>C (p.Glu176Asp) n.685A>C c.*1A>C (n.*1A>C) | dbSNP |
16 | g.1985938A>G | CA492950182 | GFER | c.303A>G (p.Glu101=) c.528A>G (p.Glu176=) n.685A>G c.*1A>G (n.*1A>G) | |
16 | g.1985938A>T | CA394304176 | GFER | c.303A>T (p.Glu101Asp) c.528A>T (p.Glu176Asp) n.685A>T c.*1A>T (n.*1A>T) | |
16 | g.1985939G>A | CA394304183 | GFER | c.304G>A (p.Val102Met) c.529G>A (p.Val177Met) n.686G>A c.*2G>A (n.*2G>A) | dbSNP gnomAD v2 |
16 | g.1985939G>C | CA394304188 | GFER | c.304G>C (p.Val102Leu) c.529G>C (p.Val177Leu) n.686G>C c.*2G>C (n.*2G>C) | dbSNP gnomAD v4 |
16 | g.1985939G= | CA2201967761 | GFER | c.304G= (p.Val102=) c.529G= (p.Val177=) n.686G= c.*2G= (n.*2G=) | |
16 | g.1985939G>T | CA394304184 | GFER | c.304G>T (p.Val102Leu) c.529G>T (p.Val177Leu) n.686G>T c.*2G>T (n.*2G>T) | |
16 | g.1985940T>A | CA394304191 | GFER | c.305T>A (p.Val102Glu) c.530T>A (p.Val177Glu) n.687T>A c.*3T>A (n.*3T>A) | dbSNP gnomAD v4 |
16 | g.1985940T>C | CA394304194 | GFER | c.305T>C (p.Val102Ala) c.530T>C (p.Val177Ala) n.687T>C c.*3T>C (n.*3T>C) | gnomAD v4 |
16 | g.1985940T>G | CA7826081 | GFER | c.305T>G (p.Val102Gly) c.530T>G (p.Val177Gly) n.687T>G c.*3T>G (n.*3T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985940T= | CA2201967763 | GFER | c.305T= (p.Val102=) c.530T= (p.Val177=) n.687T= c.*3T= (n.*3T=) | |
16 | g.1985941G>A | CA492950189 | GFER | c.306G>A (p.Val102=) c.531G>A (p.Val177=) n.688G>A c.*4G>A (n.*4G>A) | |
16 | g.1985941G>C | CA492950191 | GFER | c.306G>C (p.Val102=) c.531G>C (p.Val177=) n.688G>C c.*4G>C (n.*4G>C) | dbSNP |
16 | g.1985941G= | CA2201967764 | GFER | c.306G= (p.Val102=) c.531G= (p.Val177=) n.688G= c.*4G= (n.*4G=) | |
16 | g.1985941G>T | CA492950190 | GFER | c.306G>T (p.Val102=) c.531G>T (p.Val177=) n.688G>T c.*4G>T (n.*4G>T) | |
16 | g.1985942A>C | CA394304197 | GFER | c.307A>C (p.Asn103His) c.532A>C (p.Asn178His) n.689A>C c.*5A>C (n.*5A>C) | |
16 | g.1985942A>G | CA394304215 | GFER | c.307A>G (p.Asn103Asp) c.532A>G (p.Asn178Asp) n.689A>G c.*5A>G (n.*5A>G) | |
16 | g.1985942A>T | CA394304209 | GFER | c.307A>T (p.Asn103Tyr) c.532A>T (p.Asn178Tyr) n.689A>T c.*5A>T (n.*5A>T) | |
16 | g.1985943A= | CA2201967767 | GFER | c.308A= (p.Asn103=) c.533A= (p.Asn178=) n.690A= c.*6A= (n.*6A=) | |
16 | g.1985943A>C | CA394304219 | GFER | c.308A>C (p.Asn103Thr) c.533A>C (p.Asn178Thr) n.690A>C c.*6A>C (n.*6A>C) | |
16 | g.1985943A>G | CA394304224 | GFER | c.308A>G (p.Asn103Ser) c.533A>G (p.Asn178Ser) n.690A>G c.*6A>G (n.*6A>G) | |
16 | g.1985943A>T | CA394304221 | GFER | c.308A>T (p.Asn103Ile) c.533A>T (p.Asn178Ile) n.690A>T c.*6A>T (n.*6A>T) | |
16 | g.1985943_1985945delinsACC | CA2201967766 | GFER | c.308_310delinsACC (p.Asn103=) c.533_535delinsACC (p.Asn178=) n.690_692delinsACC c.*6_*8delinsACC (n.*6_*8delinsACC) |