Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21816433G>A | CA2681989613 | DNAH11 | c.10333-34G>A (n.10333-34G>A) c.10354-34G>A (n.10354-34G>A) | gnomAD v4 |
7 | g.21816433G>T | CA2681989614 | DNAH11 | c.10333-34G>T (n.10333-34G>T) c.10354-34G>T (n.10354-34G>T) | gnomAD v4 |
7 | g.21816434A= | CA1693666091 | DNAH11 | c.10333-33A= (n.10333-33A=) c.10354-33A= (n.10354-33A=) | |
7 | g.21816434A>C | CA836666546 | DNAH11 | c.10333-33A>C (n.10333-33A>C) c.10354-33A>C (n.10354-33A>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816434A>G | CA4182334 | DNAH11 | c.10333-33A>G (n.10333-33A>G) c.10354-33A>G (n.10354-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816435C>A | CA155122019 | DNAH11 | c.10333-32C>A (n.10333-32C>A) c.10354-32C>A (n.10354-32C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816435C= | CA1693666094 | DNAH11 | c.10333-32C= (n.10333-32C=) c.10354-32C= (n.10354-32C=) | |
7 | g.21816435C>G | CA2681989615 | DNAH11 | c.10333-32C>G (n.10333-32C>G) c.10354-32C>G (n.10354-32C>G) | gnomAD v4 |
7 | g.21816435C>T | CA2681989616 | DNAH11 | c.10333-32C>T (n.10333-32C>T) c.10354-32C>T (n.10354-32C>T) | gnomAD v4 |
7 | g.21816436C>A | CA2578843651 | DNAH11 | c.10333-31C>A (n.10333-31C>A) c.10354-31C>A (n.10354-31C>A) | gnomAD v4 |
7 | g.21816436C>T | CA2681989617 | DNAH11 | c.10333-31C>T (n.10333-31C>T) c.10354-31C>T (n.10354-31C>T) | gnomAD v4 |
7 | g.21816437A>C | CA2681989618 | DNAH11 | c.10333-30A>C (n.10333-30A>C) c.10354-30A>C (n.10354-30A>C) | gnomAD v4 |
7 | g.21816437A>G | CA2681989619 | DNAH11 | c.10333-30A>G (n.10333-30A>G) c.10354-30A>G (n.10354-30A>G) | gnomAD v4 |
7 | g.21816437A>T | CA2578843652 | DNAH11 | c.10333-30A>T (n.10333-30A>T) c.10354-30A>T (n.10354-30A>T) | |
7 | g.21816438A= | CA1693666097 | DNAH11 | c.10333-29A= (n.10333-29A=) c.10354-29A= (n.10354-29A=) | |
7 | g.21816438A>C | CA2578843653 | DNAH11 | c.10333-29A>C (n.10333-29A>C) c.10354-29A>C (n.10354-29A>C) | gnomAD v4 |
7 | g.21816438A>G | CA1693666096 | DNAH11 | c.10333-29A>G (n.10333-29A>G) c.10354-29A>G (n.10354-29A>G) | dbSNP gnomAD v4 |
7 | g.21816439T>C | CA1693666098 | DNAH11 | c.10333-28T>C (n.10333-28T>C) c.10354-28T>C (n.10354-28T>C) | dbSNP |
7 | g.21816439T= | CA1693666099 | DNAH11 | c.10333-28T= (n.10333-28T=) c.10354-28T= (n.10354-28T=) | |
7 | g.21816440T>C | CA572919020 | DNAH11 | c.10333-27T>C (n.10333-27T>C) c.10354-27T>C (n.10354-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816440T= | CA1693666102 | DNAH11 | c.10333-27T= (n.10333-27T=) c.10354-27T= (n.10354-27T=) | |
7 | g.21816442G>A | CA4182335 | DNAH11 | c.10333-25G>A (n.10333-25G>A) c.10354-25G>A (n.10354-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816442G= | CA1693666103 | DNAH11 | c.10333-25G= (n.10333-25G=) c.10354-25G= (n.10354-25G=) | |
7 | g.21816442G>T | CA572919021 | DNAH11 | c.10333-25G>T (n.10333-25G>T) c.10354-25G>T (n.10354-25G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816443T>A | CA2681989620 | DNAH11 | c.10333-24T>A (n.10333-24T>A) c.10354-24T>A (n.10354-24T>A) | gnomAD v4 |
7 | g.21816444dup | CA2774680432 | DNAH11 | c.10333-23dup (n.10333-23dup) c.10354-23dup (n.10354-23dup) | |
7 | g.21816445G>A | CA2681989621 | DNAH11 | c.10333-22G>A (n.10333-22G>A) c.10354-22G>A (n.10354-22G>A) | gnomAD v4 |
7 | g.21816446C>A | CA2681989622 | DNAH11 | c.10333-21C>A (n.10333-21C>A) c.10354-21C>A (n.10354-21C>A) | gnomAD v4 |
7 | g.21816446C>T | CA2681989623 | DNAH11 | c.10333-21C>T (n.10333-21C>T) c.10354-21C>T (n.10354-21C>T) | gnomAD v4 |
7 | g.21816447A= | CA1693666109 | DNAH11 | c.10333-20A= (n.10333-20A=) c.10354-20A= (n.10354-20A=) | |
7 | g.21816447A>C | CA155122032 | DNAH11 | c.10333-20A>C (n.10333-20A>C) c.10354-20A>C (n.10354-20A>C) | dbSNP gnomAD v4 |
7 | g.21816447A>G | CA1693666110 | DNAH11 | c.10333-20A>G (n.10333-20A>G) c.10354-20A>G (n.10354-20A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.21816447A>T | CA2681989624 | DNAH11 | c.10333-20A>T (n.10333-20A>T) c.10354-20A>T (n.10354-20A>T) | gnomAD v4 |
7 | g.21816448T>C | CA4182336 | DNAH11 | c.10333-19T>C (n.10333-19T>C) c.10354-19T>C (n.10354-19T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816448T= | CA1693666112 | DNAH11 | c.10333-19T= (n.10333-19T=) c.10354-19T= (n.10354-19T=) | |
7 | g.21816450C>A | CA2681989625 | DNAH11 | c.10333-17C>A (n.10333-17C>A) c.10354-17C>A (n.10354-17C>A) | gnomAD v4 |
7 | g.21816450C= | CA1693666114 | DNAH11 | c.10333-17C= (n.10333-17C=) c.10354-17C= (n.10354-17C=) | |
7 | g.21816450C>G | CA2578843654 | DNAH11 | c.10333-17C>G (n.10333-17C>G) c.10354-17C>G (n.10354-17C>G) | |
7 | g.21816450C>T | CA572919022 | DNAH11 | c.10333-17C>T (n.10333-17C>T) c.10354-17C>T (n.10354-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816452A= | CA1693666115 | DNAH11 | c.10333-15A= (n.10333-15A=) c.10354-15A= (n.10354-15A=) | |
7 | g.21816452A>C | CA155122047 | DNAH11 | c.10333-15A>C (n.10333-15A>C) c.10354-15A>C (n.10354-15A>C) | dbSNP gnomAD v4 |
7 | g.21816453C>A | CA2681989626 | DNAH11 | c.10333-14C>A (n.10333-14C>A) c.10354-14C>A (n.10354-14C>A) | gnomAD v4 |
7 | g.21816453C>G | CA2681989627 | DNAH11 | c.10333-14C>G (n.10333-14C>G) c.10354-14C>G (n.10354-14C>G) | gnomAD v4 |
7 | g.21816454T>A | CA2580076931 | DNAH11 | c.10333-13T>A (n.10333-13T>A) c.10354-13T>A (n.10354-13T>A) | ClinVar |
7 | g.21816454T>C | CA2578843655 | DNAH11 | c.10333-13T>C (n.10333-13T>C) c.10354-13T>C (n.10354-13T>C) | gnomAD v4 |
7 | g.21816455C>A | CA2681989628 | DNAH11 | c.10333-12C>A (n.10333-12C>A) c.10354-12C>A (n.10354-12C>A) | gnomAD v4 |
7 | g.21816455C= | CA1693666117 | DNAH11 | c.10333-12C= (n.10333-12C=) c.10354-12C= (n.10354-12C=) | |
7 | g.21816455C>G | CA1099227726 | DNAH11 | c.10333-12C>G (n.10333-12C>G) c.10354-12C>G (n.10354-12C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816456T>C | CA2681989629 | DNAH11 | c.10333-11T>C (n.10333-11T>C) c.10354-11T>C (n.10354-11T>C) | gnomAD v4 |
7 | g.21816457G>A | CA572919023 | DNAH11 | c.10333-10G>A (n.10333-10G>A) c.10354-10G>A (n.10354-10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816457G= | CA1693666119 | DNAH11 | c.10333-10G= (n.10333-10G=) c.10354-10G= (n.10354-10G=) | |
7 | g.21816457G>T | CA2681989630 | DNAH11 | c.10333-10G>T (n.10333-10G>T) c.10354-10G>T (n.10354-10G>T) | gnomAD v4 |
7 | g.21816458A>G | CA2578843656 | DNAH11 | c.10333-9A>G (n.10333-9A>G) c.10354-9A>G (n.10354-9A>G) | gnomAD v4 |
7 | g.21816459T>G | CA2774680433 | DNAH11 | c.10333-8T>G (n.10333-8T>G) c.10354-8T>G (n.10354-8T>G) | |
7 | g.21816461T>C | CA2681989631 | DNAH11 | c.10333-6T>C (n.10333-6T>C) c.10354-6T>C (n.10354-6T>C) | gnomAD v4 |
7 | g.21816461T>G | CA2681989632 | DNAH11 | c.10333-6T>G (n.10333-6T>G) c.10354-6T>G (n.10354-6T>G) | ClinVar gnomAD v4 |
7 | g.21816462T>C | CA2681989633 | DNAH11 | c.10333-5T>C (n.10333-5T>C) c.10354-5T>C (n.10354-5T>C) | gnomAD v4 |
7 | g.21816462T>G | CA572919024 | DNAH11 | c.10333-5T>G (n.10333-5T>G) c.10354-5T>G (n.10354-5T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816462T= | CA1693666121 | DNAH11 | c.10333-5T= (n.10333-5T=) c.10354-5T= (n.10354-5T=) | |
7 | g.21816465A>C | CA366947950 | DNAH11 | c.10333-2A>C (n.10333-2A>C) c.10354-2A>C (n.10354-2A>C) | |
7 | g.21816465A>G | CA366947954 | DNAH11 | c.10333-2A>G (n.10333-2A>G) c.10354-2A>G (n.10354-2A>G) | gnomAD v4 |
7 | g.21816465A>T | CA366947952 | DNAH11 | c.10333-2A>T (n.10333-2A>T) c.10354-2A>T (n.10354-2A>T) | gnomAD v4 |
7 | g.21816466G>A | CA366947956 | DNAH11 | c.10333-1G>A (n.10333-1G>A) c.10354-1G>A (n.10354-1G>A) | ClinVar |
7 | g.21816466G>C | CA4182337 | DNAH11 | c.10333-1G>C (n.10333-1G>C) c.10354-1G>C (n.10354-1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816466G= | CA1693666124 | DNAH11 | c.10333-1G= (n.10333-1G=) c.10354-1G= (n.10354-1G=) | |
7 | g.21816466G>T | CA366947958 | DNAH11 | c.10333-1G>T (n.10333-1G>T) c.10354-1G>T (n.10354-1G>T) | gnomAD v4 |
7 | g.21816467G>A | CA4182338 | DNAH11 | c.10333G>A (p.Val3445Ile) c.10354G>A (p.Val3452Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816467G>C | CA366947961 | DNAH11 | c.10333G>C (p.Val3445Leu) c.10354G>C (p.Val3452Leu) | gnomAD v4 |
7 | g.21816467G= | CA1693666126 | DNAH11 | c.10333G= (p.Val3445=) c.10354G= (p.Val3452=) | |
7 | g.21816467G>T | CA366947963 | DNAH11 | c.10333G>T (p.Val3445Phe) c.10354G>T (p.Val3452Phe) | gnomAD v4 |
7 | g.21816468T>A | CA366947965 | DNAH11 | c.10334T>A (p.Val3445Asp) c.10355T>A (p.Val3452Asp) | |
7 | g.21816468T>C | CA366947967 | DNAH11 | c.10334T>C (p.Val3445Ala) c.10355T>C (p.Val3452Ala) | |
7 | g.21816468T>G | CA366947969 | DNAH11 | c.10334T>G (p.Val3445Gly) c.10355T>G (p.Val3452Gly) | |
7 | g.21816469T>A | CA453966522 | DNAH11 | c.10335T>A (p.Val3445=) c.10356T>A (p.Val3452=) | |
7 | g.21816469T>C | CA453966523 | DNAH11 | c.10335T>C (p.Val3445=) c.10356T>C (p.Val3452=) | |
7 | g.21816469T>G | CA453966524 | DNAH11 | c.10335T>G (p.Val3445=) c.10356T>G (p.Val3452=) | |
7 | g.21816470T>A | CA366947971 | DNAH11 | c.10336T>A (p.Ser3446Thr) c.10357T>A (p.Ser3453Thr) | gnomAD v4 |
7 | g.21816470T>C | CA366947973 | DNAH11 | c.10336T>C (p.Ser3446Pro) c.10357T>C (p.Ser3453Pro) | |
7 | g.21816470T>G | CA366947975 | DNAH11 | c.10336T>G (p.Ser3446Ala) c.10357T>G (p.Ser3453Ala) | |
7 | g.21816471C>A | CA366947980 | DNAH11 | c.10337C>A (p.Ser3446Tyr) c.10358C>A (p.Ser3453Tyr) | gnomAD v4 |
7 | g.21816471C>G | CA366947977 | DNAH11 | c.10337C>G (p.Ser3446Cys) c.10358C>G (p.Ser3453Cys) | |
7 | g.21816471C>T | CA366947979 | DNAH11 | c.10337C>T (p.Ser3446Phe) c.10358C>T (p.Ser3453Phe) | gnomAD v4 |
7 | g.21816472C>A | CA453966528 | DNAH11 | c.10338C>A (p.Ser3446=) c.10359C>A (p.Ser3453=) | gnomAD v4 |
7 | g.21816472C>G | CA453966529 | DNAH11 | c.10338C>G (p.Ser3446=) c.10359C>G (p.Ser3453=) | |
7 | g.21816472C>T | CA453966530 | DNAH11 | c.10338C>T (p.Ser3446=) c.10359C>T (p.Ser3453=) | |
7 | g.21816473A= | CA1693666129 | DNAH11 | c.10339A= (p.Ile3447=) c.10360A= (p.Ile3454=) | |
7 | g.21816473A>C | CA366947982 | DNAH11 | c.10339A>C (p.Ile3447Leu) c.10360A>C (p.Ile3454Leu) | |
7 | g.21816473A>G | CA366947984 | DNAH11 | c.10339A>G (p.Ile3447Val) c.10360A>G (p.Ile3454Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816473A>T | CA366947985 | DNAH11 | c.10339A>T (p.Ile3447Phe) c.10360A>T (p.Ile3454Phe) | gnomAD v4 |
7 | g.21816474T>A | CA366947987 | DNAH11 | c.10340T>A (p.Ile3447Asn) c.10361T>A (p.Ile3454Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816474T>C | CA366947990 | DNAH11 | c.10340T>C (p.Ile3447Thr) c.10361T>C (p.Ile3454Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816474T>G | CA366947992 | DNAH11 | c.10340T>G (p.Ile3447Ser) c.10361T>G (p.Ile3454Ser) | |
7 | g.21816474T= | CA1693666131 | DNAH11 | c.10340T= (p.Ile3447=) c.10361T= (p.Ile3454=) | |
7 | g.21816475T>A | CA453966531 | DNAH11 | c.10341T>A (p.Ile3447=) c.10362T>A (p.Ile3454=) | |
7 | g.21816475T>C | CA453966533 | DNAH11 | c.10341T>C (p.Ile3447=) c.10362T>C (p.Ile3454=) | gnomAD v4 |
7 | g.21816475T>G | CA366947994 | DNAH11 | c.10341T>G (p.Ile3447Met) c.10362T>G (p.Ile3454Met) | |
7 | g.21816476C>A | CA366947999 | DNAH11 | c.10342C>A (p.Pro3448Thr) c.10363C>A (p.Pro3455Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816476C= | CA1693666136 | DNAH11 | c.10342C= (p.Pro3448=) c.10363C= (p.Pro3455=) | |
7 | g.21816476C>G | CA366947996 | DNAH11 | c.10342C>G (p.Pro3448Ala) c.10363C>G (p.Pro3455Ala) | gnomAD v4 |
7 | g.21816476C>T | CA366947998 | DNAH11 | c.10342C>T (p.Pro3448Ser) c.10363C>T (p.Pro3455Ser) | |
7 | g.21816477C>A | CA155122058 | DNAH11 | c.10343C>A (p.Pro3448Gln) c.10364C>A (p.Pro3455Gln) | dbSNP COSMIC COSMIC |
7 | g.21816477C= | CA1693666140 | DNAH11 | c.10343C= (p.Pro3448=) c.10364C= (p.Pro3455=) | |
7 | g.21816477C>G | CA366948000 | DNAH11 | c.10343C>G (p.Pro3448Arg) c.10364C>G (p.Pro3455Arg) | |
7 | g.21816477C>T | CA366948001 | DNAH11 | c.10343C>T (p.Pro3448Leu) c.10364C>T (p.Pro3455Leu) | |
7 | g.21816478A>C | CA453966536 | DNAH11 | c.10344A>C (p.Pro3448=) c.10365A>C (p.Pro3455=) | |
7 | g.21816478A>G | CA453966537 | DNAH11 | c.10344A>G (p.Pro3448=) c.10365A>G (p.Pro3455=) | ClinVar gnomAD v4 |
7 | g.21816478A>T | CA453966538 | DNAH11 | c.10344A>T (p.Pro3448=) c.10365A>T (p.Pro3455=) | gnomAD v4 |
7 | g.21816479C>A | CA366948002 | DNAH11 | c.10345C>A (p.Leu3449Ile) c.10366C>A (p.Leu3456Ile) | dbSNP |
7 | g.21816479C= | CA1693666143 | DNAH11 | c.10345C= (p.Leu3449=) c.10366C= (p.Leu3456=) | |
7 | g.21816479C>G | CA4182339 | DNAH11 | c.10345C>G (p.Leu3449Val) c.10366C>G (p.Leu3456Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816479C>T | CA453966540 | DNAH11 | c.10345C>T (p.Leu3449=) c.10366C>T (p.Leu3456=) | gnomAD v4 |
7 | g.21816480T>A | CA366948004 | DNAH11 | c.10346T>A (p.Leu3449Gln) c.10367T>A (p.Leu3456Gln) | |
7 | g.21816480T>C | CA366948009 | DNAH11 | c.10346T>C (p.Leu3449Pro) c.10367T>C (p.Leu3456Pro) | dbSNP gnomAD v4 |
7 | g.21816480T>G | CA366948008 | DNAH11 | c.10346T>G (p.Leu3449Arg) c.10367T>G (p.Leu3456Arg) | |
7 | g.21816480T= | CA1693666147 | DNAH11 | c.10346T= (p.Leu3449=) c.10367T= (p.Leu3456=) | |
7 | g.21816481A>C | CA453966545 | DNAH11 | c.10347A>C (p.Leu3449=) c.10368A>C (p.Leu3456=) | |
7 | g.21816481A>G | CA453966543 | DNAH11 | c.10347A>G (p.Leu3449=) c.10368A>G (p.Leu3456=) | dbSNP gnomAD v4 |
7 | g.21816481A>T | CA453966542 | DNAH11 | c.10347A>T (p.Leu3449=) c.10368A>T (p.Leu3456=) | |
7 | g.21816482A= | CA1693666150 | DNAH11 | c.10348A= (p.Thr3450=) c.10369A= (p.Thr3457=) | |
7 | g.21816482A>C | CA366948010 | DNAH11 | c.10348A>C (p.Thr3450Pro) c.10369A>C (p.Thr3457Pro) | |
7 | g.21816482A>G | CA366948011 | DNAH11 | c.10348A>G (p.Thr3450Ala) c.10369A>G (p.Thr3457Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816482A>T | CA4182340 | DNAH11 | c.10348A>T (p.Thr3450Ser) c.10369A>T (p.Thr3457Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816483C>A | CA366948014 | DNAH11 | c.10349C>A (p.Thr3450Asn) c.10370C>A (p.Thr3457Asn) | |
7 | g.21816483C>G | CA366948015 | DNAH11 | c.10349C>G (p.Thr3450Ser) c.10370C>G (p.Thr3457Ser) | |
7 | g.21816483C>T | CA366948016 | DNAH11 | c.10349C>T (p.Thr3450Ile) c.10370C>T (p.Thr3457Ile) | |
7 | g.21816484C>A | CA453966548 | DNAH11 | c.10350C>A (p.Thr3450=) c.10371C>A (p.Thr3457=) | |
7 | g.21816484C= | CA1693666158 | DNAH11 | c.10350C= (p.Thr3450=) c.10371C= (p.Thr3457=) | |
7 | g.21816484C>G | CA4182341 | DNAH11 | c.10350C>G (p.Thr3450=) c.10371C>G (p.Thr3457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816484C>T | CA4182342 | DNAH11 | c.10350C>T (p.Thr3450=) c.10371C>T (p.Thr3457=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21816485G>A | CA4182343 | DNAH11 | c.10351G>A (p.Glu3451Lys) c.10372G>A (p.Glu3458Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21816485G>C | CA366948022 | DNAH11 | c.10351G>C (p.Glu3451Gln) c.10372G>C (p.Glu3458Gln) | gnomAD v4 |
7 | g.21816485G= | CA1693666162 | DNAH11 | c.10351G= (p.Glu3451=) c.10372G= (p.Glu3458=) | |
7 | g.21816485G>T | CA366948024 | DNAH11 | c.10351G>T (p.Glu3451Ter) c.10372G>T (p.Glu3458Ter) | |
7 | g.21816486A= | CA1693666168 | DNAH11 | c.10352A= (p.Glu3451=) c.10373A= (p.Glu3458=) | |
7 | g.21816486A>C | CA366948026 | DNAH11 | c.10352A>C (p.Glu3451Ala) c.10373A>C (p.Glu3458Ala) | |
7 | g.21816486A>G | CA366948030 | DNAH11 | c.10352A>G (p.Glu3451Gly) c.10373A>G (p.Glu3458Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816486A>T | CA366948028 | DNAH11 | c.10352A>T (p.Glu3451Val) c.10373A>T (p.Glu3458Val) | |
7 | g.21816487A>C | CA366948032 | DNAH11 | c.10353A>C (p.Glu3451Asp) c.10374A>C (p.Glu3458Asp) | |
7 | g.21816487A>G | CA453966551 | DNAH11 | c.10353A>G (p.Glu3451=) c.10374A>G (p.Glu3458=) | |
7 | g.21816487A>T | CA366948033 | DNAH11 | c.10353A>T (p.Glu3451Asp) c.10374A>T (p.Glu3458Asp) | |
7 | g.21816488G>A | CA366948036 | DNAH11 | c.10354G>A (p.Gly3452Ser) c.10375G>A (p.Gly3459Ser) | gnomAD v4 |
7 | g.21816488G>C | CA366948038 | DNAH11 | c.10354G>C (p.Gly3452Arg) c.10375G>C (p.Gly3459Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816488G= | CA1693666172 | DNAH11 | c.10354G= (p.Gly3452=) c.10375G= (p.Gly3459=) | |
7 | g.21816488G>T | CA366948039 | DNAH11 | c.10354G>T (p.Gly3452Cys) c.10375G>T (p.Gly3459Cys) | |
7 | g.21816489G>A | CA155122083 | DNAH11 | c.10355G>A (p.Gly3452Asp) c.10376G>A (p.Gly3459Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816489G>C | CA366948045 | DNAH11 | c.10355G>C (p.Gly3452Ala) c.10376G>C (p.Gly3459Ala) | gnomAD v4 |
7 | g.21816489G= | CA1693666174 | DNAH11 | c.10355G= (p.Gly3452=) c.10376G= (p.Gly3459=) | |
7 | g.21816489G>T | CA366948043 | DNAH11 | c.10355G>T (p.Gly3452Val) c.10376G>T (p.Gly3459Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816490C>A | CA4182344 | DNAH11 | c.10356C>A (p.Gly3452=) c.10377C>A (p.Gly3459=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816490C= | CA1693666177 | DNAH11 | c.10356C= (p.Gly3452=) c.10377C= (p.Gly3459=) | |
7 | g.21816490C>G | CA453966555 | DNAH11 | c.10356C>G (p.Gly3452=) c.10377C>G (p.Gly3459=) | |
7 | g.21816490C>T | CA453966556 | DNAH11 | c.10356C>T (p.Gly3452=) c.10377C>T (p.Gly3459=) | gnomAD v4 |
7 | g.21816491C>A | CA366948049 | DNAH11 | c.10357C>A (p.Leu3453Met) c.10378C>A (p.Leu3460Met) | |
7 | g.21816491C= | CA1693666181 | DNAH11 | c.10357C= (p.Leu3453=) c.10378C= (p.Leu3460=) | |
7 | g.21816491C>G | CA366948051 | DNAH11 | c.10357C>G (p.Leu3453Val) c.10378C>G (p.Leu3460Val) | |
7 | g.21816491C>T | CA453966557 | DNAH11 | c.10357C>T (p.Leu3453=) c.10378C>T (p.Leu3460=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816492T>A | CA366948053 | DNAH11 | c.10358T>A (p.Leu3453Gln) c.10379T>A (p.Leu3460Gln) | |
7 | g.21816492T>C | CA366948055 | DNAH11 | c.10358T>C (p.Leu3453Pro) c.10379T>C (p.Leu3460Pro) | |
7 | g.21816492T>G | CA366948056 | DNAH11 | c.10358T>G (p.Leu3453Arg) c.10379T>G (p.Leu3460Arg) | |
7 | g.21816493G>A | CA453966559 | DNAH11 | c.10359G>A (p.Leu3453=) c.10380G>A (p.Leu3460=) | gnomAD v4 |
7 | g.21816493G>C | CA453966561 | DNAH11 | c.10359G>C (p.Leu3453=) c.10380G>C (p.Leu3460=) | |
7 | g.21816493G>T | CA453966560 | DNAH11 | c.10359G>T (p.Leu3453=) c.10380G>T (p.Leu3460=) | |
7 | g.21816494G>A | CA366948062 | DNAH11 | c.10360G>A (p.Asp3454Asn) c.10381G>A (p.Asp3461Asn) | |
7 | g.21816494G>C | CA366948058 | DNAH11 | c.10360G>C (p.Asp3454His) c.10381G>C (p.Asp3461His) | dbSNP gnomAD v4 |
7 | g.21816494G= | CA1693666183 | DNAH11 | c.10360G= (p.Asp3454=) c.10381G= (p.Asp3461=) | |
7 | g.21816494G>T | CA366948060 | DNAH11 | c.10360G>T (p.Asp3454Tyr) c.10381G>T (p.Asp3461Tyr) | gnomAD v4 |
7 | g.21816495A>C | CA366948064 | DNAH11 | c.10361A>C (p.Asp3454Ala) c.10382A>C (p.Asp3461Ala) | |
7 | g.21816495A>G | CA366948066 | DNAH11 | c.10361A>G (p.Asp3454Gly) c.10382A>G (p.Asp3461Gly) | gnomAD v4 |
7 | g.21816495A>T | CA366948068 | DNAH11 | c.10361A>T (p.Asp3454Val) c.10382A>T (p.Asp3461Val) | |
7 | g.21816496C>A | CA366948070 | DNAH11 | c.10362C>A (p.Asp3454Glu) c.10383C>A (p.Asp3461Glu) | |
7 | g.21816496C= | CA1693666185 | DNAH11 | c.10362C= (p.Asp3454=) c.10383C= (p.Asp3461=) | |
7 | g.21816496C>G | CA366948071 | DNAH11 | c.10362C>G (p.Asp3454Glu) c.10383C>G (p.Asp3461Glu) | |
7 | g.21816496C>T | CA453966562 | DNAH11 | c.10362C>T (p.Asp3454=) c.10383C>T (p.Asp3461=) | dbSNP gnomAD v4 |
7 | g.21816497T>A | CA366948073 | DNAH11 | c.10363T>A (p.Leu3455Met) c.10384T>A (p.Leu3462Met) | |
7 | g.21816497T>C | CA453966564 | DNAH11 | c.10363T>C (p.Leu3455=) c.10384T>C (p.Leu3462=) | |
7 | g.21816497T>G | CA366948075 | DNAH11 | c.10363T>G (p.Leu3455Val) c.10384T>G (p.Leu3462Val) | COSMIC COSMIC |
7 | g.21816498T>A | CA366948077 | DNAH11 | c.10364T>A (p.Leu3455Ter) c.10385T>A (p.Leu3462Ter) | |
7 | g.21816498T>C | CA366948079 | DNAH11 | c.10364T>C (p.Leu3455Ser) c.10385T>C (p.Leu3462Ser) | |
7 | g.21816498T>G | CA366948081 | DNAH11 | c.10364T>G (p.Leu3455Trp) c.10385T>G (p.Leu3462Trp) | |
7 | g.21816499G>A | CA453966565 | DNAH11 | c.10365G>A (p.Leu3455=) c.10386G>A (p.Leu3462=) | gnomAD v4 |
7 | g.21816499G>C | CA366948083 | DNAH11 | c.10365G>C (p.Leu3455Phe) c.10386G>C (p.Leu3462Phe) | |
7 | g.21816499G>T | CA366948086 | DNAH11 | c.10365G>T (p.Leu3455Phe) c.10386G>T (p.Leu3462Phe) | gnomAD v4 |
7 | g.21816500A= | CA1693666187 | DNAH11 | c.10366A= (p.Ile3456=) c.10387A= (p.Ile3463=) | |
7 | g.21816500A>C | CA366948091 | DNAH11 | c.10366A>C (p.Ile3456Leu) c.10387A>C (p.Ile3463Leu) | dbSNP |
7 | g.21816500A>G | CA366948098 | DNAH11 | c.10366A>G (p.Ile3456Val) c.10387A>G (p.Ile3463Val) | |
7 | g.21816500A>T | CA366948095 | DNAH11 | c.10366A>T (p.Ile3456Leu) c.10387A>T (p.Ile3463Leu) | |
7 | g.21816501T>A | CA366948101 | DNAH11 | c.10367T>A (p.Ile3456Lys) c.10388T>A (p.Ile3463Lys) | |
7 | g.21816501T>C | CA366948104 | DNAH11 | c.10367T>C (p.Ile3456Thr) c.10388T>C (p.Ile3463Thr) | |
7 | g.21816501T>G | CA366948107 | DNAH11 | c.10367T>G (p.Ile3456Arg) c.10388T>G (p.Ile3463Arg) | |
7 | g.21816502A= | CA1693666190 | DNAH11 | c.10368A= (p.Ile3456=) c.10389A= (p.Ile3463=) | |
7 | g.21816502A>C | CA453966567 | DNAH11 | c.10368A>C (p.Ile3456=) c.10389A>C (p.Ile3463=) | |
7 | g.21816502A>G | CA155122087 | DNAH11 | c.10368A>G (p.Ile3456Met) c.10389A>G (p.Ile3463Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816502A>T | CA453966566 | DNAH11 | c.10368A>T (p.Ile3456=) c.10389A>T (p.Ile3463=) | |
7 | g.21816502_21816503insAA | CA2572688791 | DNAH11 | c.10368_10369insAA (p.Ser3457AsnfsTer4) c.10389_10390insAA (p.Ser3464AsnfsTer4) | |
7 | g.21816503T>A | CA366948112 | DNAH11 | c.10369T>A (p.Ser3457Thr) c.10390T>A (p.Ser3464Thr) | |
7 | g.21816503T>C | CA366948115 | DNAH11 | c.10369T>C (p.Ser3457Pro) c.10390T>C (p.Ser3464Pro) | |
7 | g.21816503T>G | CA366948117 | DNAH11 | c.10369T>G (p.Ser3457Ala) c.10390T>G (p.Ser3464Ala) | |
7 | g.21816504C>A | CA366948119 | DNAH11 | c.10370C>A (p.Ser3457Tyr) c.10391C>A (p.Ser3464Tyr) | |
7 | g.21816504C= | CA1693666193 | DNAH11 | c.10370C= (p.Ser3457=) c.10391C= (p.Ser3464=) | |
7 | g.21816504C>G | CA4182345 | DNAH11 | c.10370C>G (p.Ser3457Cys) c.10391C>G (p.Ser3464Cys) | dbSNP ExAC gnomAD v2 |
7 | g.21816504C>T | CA366948121 | DNAH11 | c.10370C>T (p.Ser3457Phe) c.10391C>T (p.Ser3464Phe) | |
7 | g.21816505del | CA2681989634 | DNAH11 | c.10371del (p.Met3458CysfsTer2) c.10392del (p.Met3465CysfsTer2) | gnomAD v4 |
7 | g.21816505C>A | CA453966568 | DNAH11 | c.10371C>A (p.Ser3457=) c.10392C>A (p.Ser3464=) | |
7 | g.21816505C= | CA1693666198 | DNAH11 | c.10371C= (p.Ser3457=) c.10392C= (p.Ser3464=) | |
7 | g.21816505C>G | CA453966569 | DNAH11 | c.10371C>G (p.Ser3457=) c.10392C>G (p.Ser3464=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816505C>T | CA453966570 | DNAH11 | c.10371C>T (p.Ser3457=) c.10392C>T (p.Ser3464=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816506_21816507insGTATTTACA | CA2514662296 | DNAH11 | c.10372_10373insGTATTTACA (p.Ser3457_Met3458insSerIleTyr) c.10393_10394insGTATTTACA (p.Ser3464_Met3465insSerIleTyr) | |
7 | g.21816506A= | CA1693666200 | DNAH11 | c.10372A= (p.Met3458=) c.10393A= (p.Met3465=) | |
7 | g.21816506A>C | CA366948122 | DNAH11 | c.10372A>C (p.Met3458Leu) c.10393A>C (p.Met3465Leu) | |
7 | g.21816506A>G | CA4182346 | DNAH11 | c.10372A>G (p.Met3458Val) c.10393A>G (p.Met3465Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816506A>T | CA366948126 | DNAH11 | c.10372A>T (p.Met3458Leu) c.10393A>T (p.Met3465Leu) | |
7 | g.21816507T>A | CA366948131 | DNAH11 | c.10373T>A (p.Met3458Lys) c.10394T>A (p.Met3465Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816507T>C | CA366948134 | DNAH11 | c.10373T>C (p.Met3458Thr) c.10394T>C (p.Met3465Thr) | gnomAD v4 |
7 | g.21816507T>G | CA366948133 | DNAH11 | c.10373T>G (p.Met3458Arg) c.10394T>G (p.Met3465Arg) | |
7 | g.21816507T= | CA1693666203 | DNAH11 | c.10373T= (p.Met3458=) c.10394T= (p.Met3465=) | |
7 | g.21816508G>A | CA4182347 | DNAH11 | c.10374G>A (p.Met3458Ile) c.10395G>A (p.Met3465Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21816508G>C | CA366948137 | DNAH11 | c.10374G>C (p.Met3458Ile) c.10395G>C (p.Met3465Ile) | |
7 | g.21816508G= | CA1693666208 | DNAH11 | c.10374G= (p.Met3458=) c.10395G= (p.Met3465=) | |
7 | g.21816508G>T | CA366948139 | DNAH11 | c.10374G>T (p.Met3458Ile) c.10395G>T (p.Met3465Ile) | |
7 | g.21816509T>A | CA366948141 | DNAH11 | c.10375T>A (p.Leu3459Met) c.10396T>A (p.Leu3466Met) | |
7 | g.21816509T>C | CA453966574 | DNAH11 | c.10375T>C (p.Leu3459=) c.10396T>C (p.Leu3466=) | |
7 | g.21816509T>G | CA366948144 | DNAH11 | c.10375T>G (p.Leu3459Val) c.10396T>G (p.Leu3466Val) | |
7 | g.21816510T>A | CA366948147 | DNAH11 | c.10376T>A (p.Leu3459Ter) c.10397T>A (p.Leu3466Ter) | gnomAD v4 |
7 | g.21816510T>C | CA366948150 | DNAH11 | c.10376T>C (p.Leu3459Ser) c.10397T>C (p.Leu3466Ser) | gnomAD v4 |
7 | g.21816510T>G | CA366948151 | DNAH11 | c.10376T>G (p.Leu3459Trp) c.10397T>G (p.Leu3466Trp) | |
7 | g.21816511G>A | CA453966577 | DNAH11 | c.10377G>A (p.Leu3459=) c.10398G>A (p.Leu3466=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816511G>C | CA366948153 | DNAH11 | c.10377G>C (p.Leu3459Phe) c.10398G>C (p.Leu3466Phe) | |
7 | g.21816511G= | CA1693666212 | DNAH11 | c.10377G= (p.Leu3459=) c.10398G= (p.Leu3466=) | |
7 | g.21816511G>T | CA366948156 | DNAH11 | c.10377G>T (p.Leu3459Phe) c.10398G>T (p.Leu3466Phe) | |
7 | g.21816512A>C | CA366948166 | DNAH11 | c.10378A>C (p.Thr3460Pro) c.10399A>C (p.Thr3467Pro) | |
7 | g.21816512A>G | CA366948163 | DNAH11 | c.10378A>G (p.Thr3460Ala) c.10399A>G (p.Thr3467Ala) | |
7 | g.21816512A>T | CA366948160 | DNAH11 | c.10378A>T (p.Thr3460Ser) c.10399A>T (p.Thr3467Ser) | |
7 | g.21816513C>A | CA4182348 | DNAH11 | c.10379C>A (p.Thr3460Lys) c.10400C>A (p.Thr3467Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816513C= | CA1693666217 | DNAH11 | c.10379C= (p.Thr3460=) c.10400C= (p.Thr3467=) | |
7 | g.21816513C>G | CA366948172 | DNAH11 | c.10379C>G (p.Thr3460Arg) c.10400C>G (p.Thr3467Arg) | |
7 | g.21816513C>T | CA4182349 | DNAH11 | c.10379C>T (p.Thr3460Met) c.10400C>T (p.Thr3467Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816514G>A | CA4182350 | DNAH11 | c.10380G>A (p.Thr3460=) c.10401G>A (p.Thr3467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21816514G>C | CA453966578 | DNAH11 | c.10380G>C (p.Thr3460=) c.10401G>C (p.Thr3467=) | |
7 | g.21816514G= | CA1693666222 | DNAH11 | c.10380G= (p.Thr3460=) c.10401G= (p.Thr3467=) | |
7 | g.21816514G>T | CA453966579 | DNAH11 | c.10380G>T (p.Thr3460=) c.10401G>T (p.Thr3467=) | dbSNP gnomAD v4 |
7 | g.21816515G>A | CA366948195 | DNAH11 | c.10381G>A (p.Asp3461Asn) c.10402G>A (p.Asp3468Asn) | ClinVar dbSNP |
7 | g.21816515G>C | CA366948178 | DNAH11 | c.10381G>C (p.Asp3461His) c.10402G>C (p.Asp3468His) | |
7 | g.21816515G= | CA1693666228 | DNAH11 | c.10381G= (p.Asp3461=) c.10402G= (p.Asp3468=) | |
7 | g.21816515G>T | CA366948192 | DNAH11 | c.10381G>T (p.Asp3461Tyr) c.10402G>T (p.Asp3468Tyr) | |
7 | g.21816516A>C | CA366948199 | DNAH11 | c.10382A>C (p.Asp3461Ala) c.10403A>C (p.Asp3468Ala) | |
7 | g.21816516A>G | CA366948202 | DNAH11 | c.10382A>G (p.Asp3461Gly) c.10403A>G (p.Asp3468Gly) | |
7 | g.21816516A>T | CA366948203 | DNAH11 | c.10382A>T (p.Asp3461Val) c.10403A>T (p.Asp3468Val) | gnomAD v4 |
7 | g.21816517T>A | CA366948205 | DNAH11 | c.10383T>A (p.Asp3461Glu) c.10404T>A (p.Asp3468Glu) | COSMIC COSMIC |
7 | g.21816517T>C | CA453966581 | DNAH11 | c.10383T>C (p.Asp3461=) c.10404T>C (p.Asp3468=) | ClinVar dbSNP |
7 | g.21816517T>G | CA366948209 | DNAH11 | c.10383T>G (p.Asp3461Glu) c.10404T>G (p.Asp3468Glu) | |
7 | g.21816517T= | CA1693666233 | DNAH11 | c.10383T= (p.Asp3461=) c.10404T= (p.Asp3468=) | |
7 | g.21816518G>A | CA366948210 | DNAH11 | c.10384G>A (p.Asp3462Asn) c.10405G>A (p.Asp3469Asn) | dbSNP |
7 | g.21816518G>C | CA366948213 | DNAH11 | c.10384G>C (p.Asp3462His) c.10405G>C (p.Asp3469His) | |
7 | g.21816518G= | CA1693666236 | DNAH11 | c.10384G= (p.Asp3462=) c.10405G= (p.Asp3469=) | |
7 | g.21816518G>T | CA366948216 | DNAH11 | c.10384G>T (p.Asp3462Tyr) c.10405G>T (p.Asp3469Tyr) | COSMIC |
7 | g.21816519A>C | CA366948221 | DNAH11 | c.10385A>C (p.Asp3462Ala) c.10406A>C (p.Asp3469Ala) | |
7 | g.21816519A>G | CA366948220 | DNAH11 | c.10385A>G (p.Asp3462Gly) c.10406A>G (p.Asp3469Gly) | |
7 | g.21816519A>T | CA366948218 | DNAH11 | c.10385A>T (p.Asp3462Val) c.10406A>T (p.Asp3469Val) | |
7 | g.21816520T>A | CA366948223 | DNAH11 | c.10386T>A (p.Asp3462Glu) c.10407T>A (p.Asp3469Glu) | |
7 | g.21816520T>C | CA4182351 | DNAH11 | c.10386T>C (p.Asp3462=) c.10407T>C (p.Asp3469=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816520T>G | CA366948225 | DNAH11 | c.10386T>G (p.Asp3462Glu) c.10407T>G (p.Asp3469Glu) | dbSNP |
7 | g.21816520T= | CA1693666239 | DNAH11 | c.10386T= (p.Asp3462=) c.10407T= (p.Asp3469=) | |
7 | g.21816521G>A | CA4182352 | DNAH11 | c.10387G>A (p.Ala3463Thr) c.10408G>A (p.Ala3470Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816521G>C | CA366948228 | DNAH11 | c.10387G>C (p.Ala3463Pro) c.10408G>C (p.Ala3470Pro) | |
7 | g.21816521G= | CA1693666242 | DNAH11 | c.10387G= (p.Ala3463=) c.10408G= (p.Ala3470=) | |
7 | g.21816521G>T | CA366948229 | DNAH11 | c.10387G>T (p.Ala3463Ser) c.10408G>T (p.Ala3470Ser) | |
7 | g.21816522C>A | CA366948232 | DNAH11 | c.10388C>A (p.Ala3463Asp) c.10409C>A (p.Ala3470Asp) | |
7 | g.21816522C>G | CA366948233 | DNAH11 | c.10388C>G (p.Ala3463Gly) c.10409C>G (p.Ala3470Gly) | |
7 | g.21816522C>T | CA366948234 | DNAH11 | c.10388C>T (p.Ala3463Val) c.10409C>T (p.Ala3470Val) | gnomAD v4 |
7 | g.21816523T>A | CA453966586 | DNAH11 | c.10389T>A (p.Ala3463=) c.10410T>A (p.Ala3470=) | |
7 | g.21816523T>C | CA453966584 | DNAH11 | c.10389T>C (p.Ala3463=) c.10410T>C (p.Ala3470=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21816523T>G | CA453966585 | DNAH11 | c.10389T>G (p.Ala3463=) c.10410T>G (p.Ala3470=) | |
7 | g.21816523T= | CA1693666246 | DNAH11 | c.10389T= (p.Ala3463=) c.10410T= (p.Ala3470=) | |
7 | g.21816524A= | CA1693666248 | DNAH11 | c.10390A= (p.Thr3464=) c.10411A= (p.Thr3471=) | |
7 | g.21816524A>C | CA366948235 | DNAH11 | c.10390A>C (p.Thr3464Pro) c.10411A>C (p.Thr3471Pro) | |
7 | g.21816524A>G | CA366948236 | DNAH11 | c.10390A>G (p.Thr3464Ala) c.10411A>G (p.Thr3471Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21816524A>T | CA366948237 | DNAH11 | c.10390A>T (p.Thr3464Ser) c.10411A>T (p.Thr3471Ser) | |
7 | g.21816525C>A | CA366948240 | DNAH11 | c.10391C>A (p.Thr3464Lys) c.10412C>A (p.Thr3471Lys) | |
7 | g.21816525C= | CA1693666252 | DNAH11 | c.10391C= (p.Thr3464=) c.10412C= (p.Thr3471=) | |
7 | g.21816525C>G | CA366948241 | DNAH11 | c.10391C>G (p.Thr3464Arg) c.10412C>G (p.Thr3471Arg) | |
7 | g.21816525C>T | CA4182353 | DNAH11 | c.10391C>T (p.Thr3464Ile) c.10412C>T (p.Thr3471Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816526A= | CA1693666255 | DNAH11 | c.10392A= (p.Thr3464=) c.10413A= (p.Thr3471=) | |
7 | g.21816526A>C | CA453966587 | DNAH11 | c.10392A>C (p.Thr3464=) c.10413A>C (p.Thr3471=) | |
7 | g.21816526A>G | CA4182354 | DNAH11 | c.10392A>G (p.Thr3464=) c.10413A>G (p.Thr3471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816526A>T | CA453966589 | DNAH11 | c.10392A>T (p.Thr3464=) c.10413A>T (p.Thr3471=) | |
7 | g.21816527A= | CA1693666258 | DNAH11 | c.10393A= (p.Ile3465=) c.10414A= (p.Ile3472=) | |
7 | g.21816527A>C | CA366948245 | DNAH11 | c.10393A>C (p.Ile3465Leu) c.10414A>C (p.Ile3472Leu) | |
7 | g.21816527A>G | CA155122122 | DNAH11 | c.10393A>G (p.Ile3465Val) c.10414A>G (p.Ile3472Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816527A>T | CA366948248 | DNAH11 | c.10393A>T (p.Ile3465Phe) c.10414A>T (p.Ile3472Phe) | gnomAD v4 |
7 | g.21816528T>A | CA366948250 | DNAH11 | c.10394T>A (p.Ile3465Asn) c.10415T>A (p.Ile3472Asn) | |
7 | g.21816528T>C | CA366948253 | DNAH11 | c.10394T>C (p.Ile3465Thr) c.10415T>C (p.Ile3472Thr) | |
7 | g.21816528T>G | CA366948254 | DNAH11 | c.10394T>G (p.Ile3465Ser) c.10415T>G (p.Ile3472Ser) | |
7 | g.21816529T>A | CA4182355 | DNAH11 | c.10395T>A (p.Ile3465=) c.10416T>A (p.Ile3472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21816529T>C | CA453966591 | DNAH11 | c.10395T>C (p.Ile3465=) c.10416T>C (p.Ile3472=) | |
7 | g.21816529T>G | CA366948256 | DNAH11 | c.10395T>G (p.Ile3465Met) c.10416T>G (p.Ile3472Met) | |
7 | g.21816529T= | CA1693666262 | DNAH11 | c.10395T= (p.Ile3465=) c.10416T= (p.Ile3472=) | |
7 | g.21816530G>A | CA366948258 | DNAH11 | c.10396G>A (p.Ala3466Thr) c.10417G>A (p.Ala3473Thr) | |
7 | g.21816530G>C | CA366948259 | DNAH11 | c.10396G>C (p.Ala3466Pro) c.10417G>C (p.Ala3473Pro) | |
7 | g.21816530G>T | CA366948261 | DNAH11 | c.10396G>T (p.Ala3466Ser) c.10417G>T (p.Ala3473Ser) | |
7 | g.21816531C>A | CA366948268 | DNAH11 | c.10397C>A (p.Ala3466Asp) c.10418C>A (p.Ala3473Asp) | |
7 | g.21816531C>G | CA366948270 | DNAH11 | c.10397C>G (p.Ala3466Gly) c.10418C>G (p.Ala3473Gly) | gnomAD v4 |
7 | g.21816531C>T | CA366948265 | DNAH11 | c.10397C>T (p.Ala3466Val) c.10418C>T (p.Ala3473Val) | |
7 | g.21816532C>A | CA453966595 | DNAH11 | c.10398C>A (p.Ala3466=) c.10419C>A (p.Ala3473=) | dbSNP gnomAD v4 |
7 | g.21816532C= | CA1693666267 | DNAH11 | c.10398C= (p.Ala3466=) c.10419C= (p.Ala3473=) | |
7 | g.21816532C>G | CA453966596 | DNAH11 | c.10398C>G (p.Ala3466=) c.10419C>G (p.Ala3473=) | gnomAD v4 |
7 | g.21816532C>T | CA4182356 | DNAH11 | c.10398C>T (p.Ala3466=) c.10419C>T (p.Ala3473=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816533G>A | CA182902 | DNAH11 | c.10399G>A (p.Ala3467Thr) c.10420G>A (p.Ala3474Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21816533G>C | CA366948276 | DNAH11 | c.10399G>C (p.Ala3467Pro) c.10420G>C (p.Ala3474Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.21816533G= | CA1630834691 | DNAH11 | c.10399G= (p.Ala3467=) c.10420G= (p.Ala3474=) | |
7 | g.21816533G>T | CA366948278 | DNAH11 | c.10399G>T (p.Ala3467Ser) c.10420G>T (p.Ala3474Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |