Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113149056A= | CA2120140061 | F10 | c.1006A= (p.Met336=) c.996A= (p.Ala332=) c.1002A= (p.Ala334=) c.874A= (p.Met292=) | |
13 | g.113149056A>C | CA388792548 | F10 | c.1006A>C (p.Met336Leu) c.996A>C (p.Ala332=) c.1002A>C (p.Ala334=) c.874A>C (p.Met292Leu) | |
13 | g.113149056A>G | CA256478663 | F10 | c.1006A>G (p.Met336Val) c.996A>G (p.Ala332=) c.1002A>G (p.Ala334=) c.874A>G (p.Met292Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149056A>T | CA388792551 | F10 | c.1006A>T (p.Met336Leu) c.996A>T (p.Ala332=) c.1002A>T (p.Ala334=) c.874A>T (p.Met292Leu) | |
13 | g.113149057T>A | CA388792554 | F10 | c.1007T>A (p.Met336Lys) c.997T>A (p.Ter333Arg) c.1003T>A (p.Ter335Arg) c.875T>A (p.Met292Lys) | |
13 | g.113149057T>C | CA388792556 | F10 | c.1007T>C (p.Met336Thr) c.997T>C (p.Ter333Arg) c.1003T>C (p.Ter335Arg) c.875T>C (p.Met292Thr) | |
13 | g.113149057T>G | CA388792558 | F10 | c.1007T>G (p.Met336Arg) c.997T>G (p.Ter333Gly) c.1003T>G (p.Ter335Gly) c.875T>G (p.Met292Arg) | |
13 | g.113149058G>A | CA388792566 | F10 | c.1008G>A (p.Met336Ile) c.998G>A (p.Ter333=) c.1004G>A (p.Ter335=) c.876G>A (p.Met292Ile) | COSMIC |
13 | g.113149058G>C | CA388792563 | F10 | c.1008G>C (p.Met336Ile) c.998G>C (p.Ter333Ser) c.1004G>C (p.Ter335Ser) c.876G>C (p.Met292Ile) | |
13 | g.113149058G>T | CA388792560 | F10 | c.1008G>T (p.Met336Ile) c.998G>T (p.Ter333Leu) c.1004G>T (p.Ter335Leu) c.876G>T (p.Met292Ile) | |
13 | g.113149059A>C | CA388792569 | F10 | c.1009A>C (p.Asn337His) c.999A>C (p.Ter333Cys) c.1005A>C (p.Ter335Cys) c.877A>C (p.Asn293His) | |
13 | g.113149059A>G | CA388792572 | F10 | c.1009A>G (p.Asn337Asp) c.999A>G (p.Ter333Trp) c.1005A>G (p.Ter335Trp) c.877A>G (p.Asn293Asp) | |
13 | g.113149059A>T | CA388792574 | F10 | c.1009A>T (p.Asn337Tyr) c.999A>T (p.Ter333Cys) c.1005A>T (p.Ter335Cys) c.877A>T (p.Asn293Tyr) | |
13 | g.113149060A>C | CA388792577 | F10 | c.1010A>C (p.Asn337Thr) c.*1A>C (n.*1A>C) c.878A>C (p.Asn293Thr) | |
13 | g.113149060A>G | CA388792578 | F10 | c.1010A>G (p.Asn337Ser) c.*1A>G (n.*1A>G) c.878A>G (p.Asn293Ser) | |
13 | g.113149060A>T | CA388792581 | F10 | c.1010A>T (p.Asn337Ile) c.*1A>T (n.*1A>T) c.878A>T (p.Asn293Ile) | |
13 | g.113149061C>A | CA256478665 | F10 | c.1011C>A (p.Asn337Lys) c.*2C>A (n.*2C>A) c.879C>A (p.Asn293Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149061C= | CA2120140069 | F10 | c.1011C= (p.Asn337=) c.*2C= (n.*2C=) c.879C= (p.Asn293=) | |
13 | g.113149061C>G | CA388792585 | F10 | c.1011C>G (p.Asn337Lys) c.*2C>G (n.*2C>G) c.879C>G (p.Asn293Lys) | |
13 | g.113149061C>T | CA7060662 | F10 | c.1011C>T (p.Asn337=) c.*2C>T (n.*2C>T) c.879C>T (p.Asn293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149062G>A | CA256478666 | F10 | c.1012G>A (p.Val338Met) c.*3G>A (n.*3G>A) c.880G>A (p.Val294Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149062G>C | CA388792588 | F10 | c.1012G>C (p.Val338Leu) c.*3G>C (n.*3G>C) c.880G>C (p.Val294Leu) | |
13 | g.113149062G= | CA2120140078 | F10 | c.1012G= (p.Val338=) c.*3G= (n.*3G=) c.880G= (p.Val294=) | |
13 | g.113149062G>T | CA388792591 | F10 | c.1012G>T (p.Val338Leu) c.*3G>T (n.*3G>T) c.880G>T (p.Val294Leu) | gnomAD v4 |
13 | g.113149063T>A | CA388792599 | F10 | c.1013T>A (p.Val338Glu) c.*4T>A (n.*4T>A) c.881T>A (p.Val294Glu) | |
13 | g.113149063T>C | CA388792597 | F10 | c.1013T>C (p.Val338Ala) c.*4T>C (n.*4T>C) c.881T>C (p.Val294Ala) | |
13 | g.113149063T>G | CA388792595 | F10 | c.1013T>G (p.Val338Gly) c.*4T>G (n.*4T>G) c.881T>G (p.Val294Gly) | |
13 | g.113149064G>A | CA485424051 | F10 | c.1014G>A (p.Val338=) c.*5G>A (n.*5G>A) c.882G>A (p.Val294=) | |
13 | g.113149064G>C | CA7060663 | F10 | c.1014G>C (p.Val338=) c.*5G>C (n.*5G>C) c.882G>C (p.Val294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149064G= | CA2120140081 | F10 | c.1014G= (p.Val338=) c.*5G= (n.*5G=) c.882G= (p.Val294=) | |
13 | g.113149064G>T | CA485424052 | F10 | c.1014G>T (p.Val338=) c.*5G>T (n.*5G>T) c.882G>T (p.Val294=) | |
13 | g.113149065G>A | CA388792608 | F10 | c.1015G>A (p.Ala339Thr) c.*6G>A (n.*6G>A) c.883G>A (p.Ala295Thr) | |
13 | g.113149065G>C | CA388792603 | F10 | c.1015G>C (p.Ala339Pro) c.*6G>C (n.*6G>C) c.883G>C (p.Ala295Pro) | |
13 | g.113149065G>T | CA388792605 | F10 | c.1015G>T (p.Ala339Ser) c.*6G>T (n.*6G>T) c.883G>T (p.Ala295Ser) | |
13 | g.113149066C>A | CA388792612 | F10 | c.1016C>A (p.Ala339Glu) c.*7C>A (n.*7C>A) c.884C>A (p.Ala295Glu) | |
13 | g.113149066C= | CA2120140083 | F10 | c.1016C= (p.Ala339=) c.*7C= (n.*7C=) c.884C= (p.Ala295=) | |
13 | g.113149066C>G | CA388792614 | F10 | c.1016C>G (p.Ala339Gly) c.*7C>G (n.*7C>G) c.884C>G (p.Ala295Gly) | |
13 | g.113149066C>T | CA7060664 | F10 | c.1016C>T (p.Ala339Val) c.*7C>T (n.*7C>T) c.884C>T (p.Ala295Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149067G>A | CA7060665 | F10 | c.1017G>A (p.Ala339=) c.*8G>A (n.*8G>A) c.885G>A (p.Ala295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149067G>C | CA485424053 | F10 | c.1017G>C (p.Ala339=) c.*8G>C (n.*8G>C) c.885G>C (p.Ala295=) | |
13 | g.113149067G= | CA2120140086 | F10 | c.1017G= (p.Ala339=) c.*8G= (n.*8G=) c.885G= (p.Ala295=) | |
13 | g.113149067G>T | CA485424054 | F10 | c.1017G>T (p.Ala339=) c.*8G>T (n.*8G>T) c.885G>T (p.Ala295=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149075_113149078dup | CA2623809560 | F10 | c.1025_1028dup (p.Glu345ProfsTer4) c.*16_*19dup (n.*16_*19dup) c.893_896dup (p.Glu301ProfsTer4) | gnomAD v4 |
13 | g.113149068C>A | CA388792621 | F10 | c.1018C>A (p.Pro340Thr) c.*9C>A (n.*9C>A) c.886C>A (p.Pro296Thr) | |
13 | g.113149068C= | CA2120140089 | F10 | c.1018C= (p.Pro340=) c.*9C= (n.*9C=) c.886C= (p.Pro296=) | |
13 | g.113149068C>G | CA256478670 | F10 | c.1018C>G (p.Pro340Ala) c.*9C>G (n.*9C>G) c.886C>G (p.Pro296Ala) | dbSNP gnomAD v4 |
13 | g.113149068C>T | CA7060666 | F10 | c.1018C>T (p.Pro340Ser) c.*9C>T (n.*9C>T) c.886C>T (p.Pro296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149069C>A | CA388792626 | F10 | c.1019C>A (p.Pro340His) c.*10C>A (n.*10C>A) c.887C>A (p.Pro296His) | |
13 | g.113149069C>G | CA388792629 | F10 | c.1019C>G (p.Pro340Arg) c.*10C>G (n.*10C>G) c.887C>G (p.Pro296Arg) | |
13 | g.113149069C>T | CA388792631 | F10 | c.1019C>T (p.Pro340Leu) c.*10C>T (n.*10C>T) c.887C>T (p.Pro296Leu) | gnomAD v4 |
13 | g.113149070T>A | CA485424055 | F10 | c.1020T>A (p.Pro340=) c.*11T>A (n.*11T>A) c.888T>A (p.Pro296=) | |
13 | g.113149070T>C | CA485424056 | F10 | c.1020T>C (p.Pro340=) c.*11T>C (n.*11T>C) c.888T>C (p.Pro296=) | dbSNP |
13 | g.113149070T>G | CA485424057 | F10 | c.1020T>G (p.Pro340=) c.*11T>G (n.*11T>G) c.888T>G (p.Pro296=) | |
13 | g.113149071G>A | CA256478672 | F10 | c.1021G>A (p.Ala341Thr) c.*12G>A (n.*12G>A) c.889G>A (p.Ala297Thr) | dbSNP |
13 | g.113149071G>C | CA388792633 | F10 | c.1021G>C (p.Ala341Pro) c.*12G>C (n.*12G>C) c.889G>C (p.Ala297Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149071G= | CA2120140092 | F10 | c.1021G= (p.Ala341=) c.*12G= (n.*12G=) c.889G= (p.Ala297=) | |
13 | g.113149071G>T | CA388792634 | F10 | c.1021G>T (p.Ala341Ser) c.*12G>T (n.*12G>T) c.889G>T (p.Ala297Ser) | |
13 | g.113149072C>A | CA388792637 | F10 | c.1022C>A (p.Ala341Asp) c.*13C>A (n.*13C>A) c.890C>A (p.Ala297Asp) | |
13 | g.113149072C>G | CA388792639 | F10 | c.1022C>G (p.Ala341Gly) c.*13C>G (n.*13C>G) c.890C>G (p.Ala297Gly) | |
13 | g.113149072C>T | CA388792641 | F10 | c.1022C>T (p.Ala341Val) c.*13C>T (n.*13C>T) c.890C>T (p.Ala297Val) | |
13 | g.113149073C>A | CA485424058 | F10 | c.1023C>A (p.Ala341=) c.*14C>A (n.*14C>A) c.891C>A (p.Ala297=) | |
13 | g.113149073C>G | CA485424059 | F10 | c.1023C>G (p.Ala341=) c.*14C>G (n.*14C>G) c.891C>G (p.Ala297=) | |
13 | g.113149073C>T | CA485424060 | F10 | c.1023C>T (p.Ala341=) c.*14C>T (n.*14C>T) c.891C>T (p.Ala297=) | |
13 | g.113149074T>A | CA388792642 | F10 | c.1024T>A (p.Cys342Ser) c.*15T>A (n.*15T>A) c.892T>A (p.Cys298Ser) | |
13 | g.113149074T>C | CA388792644 | F10 | c.1024T>C (p.Cys342Arg) c.*15T>C (n.*15T>C) c.892T>C (p.Cys298Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149074T>G | CA388792647 | F10 | c.1024T>G (p.Cys342Gly) c.*15T>G (n.*15T>G) c.892T>G (p.Cys298Gly) | |
13 | g.113149074T= | CA2120140095 | F10 | c.1024T= (p.Cys342=) c.*15T= (n.*15T=) c.892T= (p.Cys298=) | |
13 | g.113149075G>A | CA388792650 | F10 | c.1025G>A (p.Cys342Tyr) c.*16G>A (n.*16G>A) c.893G>A (p.Cys298Tyr) | |
13 | g.113149075G>C | CA388792653 | F10 | c.1025G>C (p.Cys342Ser) c.*16G>C (n.*16G>C) c.893G>C (p.Cys298Ser) | |
13 | g.113149075G>T | CA388792655 | F10 | c.1025G>T (p.Cys342Phe) c.*16G>T (n.*16G>T) c.893G>T (p.Cys298Phe) | |
13 | g.113149076C>A | CA388792657 | F10 | c.1026C>A (p.Cys342Ter) c.*17C>A (n.*17C>A) c.894C>A (p.Cys298Ter) | |
13 | g.113149076C>G | CA388792660 | F10 | c.1026C>G (p.Cys342Trp) c.*17C>G (n.*17C>G) c.894C>G (p.Cys298Trp) | |
13 | g.113149076C>T | CA485424061 | F10 | c.1026C>T (p.Cys342=) c.*17C>T (n.*17C>T) c.894C>T (p.Cys298=) | |
13 | g.113149077C>A | CA388792665 | F10 | c.1027C>A (p.Leu343Ile) c.*18C>A (n.*18C>A) c.895C>A (p.Leu299Ile) | gnomAD v4 |
13 | g.113149077C>G | CA388792668 | F10 | c.1027C>G (p.Leu343Val) c.*18C>G (n.*18C>G) c.895C>G (p.Leu299Val) | |
13 | g.113149077C>T | CA388792663 | F10 | c.1027C>T (p.Leu343Phe) c.*18C>T (n.*18C>T) c.895C>T (p.Leu299Phe) | |
13 | g.113149078T>A | CA388792669 | F10 | c.1028T>A (p.Leu343His) c.*19T>A (n.*19T>A) c.896T>A (p.Leu299His) | |
13 | g.113149078T>C | CA388792671 | F10 | c.1028T>C (p.Leu343Pro) c.*19T>C (n.*19T>C) c.896T>C (p.Leu299Pro) | COSMIC |
13 | g.113149078T>G | CA388792673 | F10 | c.1028T>G (p.Leu343Arg) c.*19T>G (n.*19T>G) c.896T>G (p.Leu299Arg) | |
13 | g.113149079C>A | CA485424062 | F10 | c.1029C>A (p.Leu343=) c.*20C>A (n.*20C>A) c.897C>A (p.Leu299=) | |
13 | g.113149079C>G | CA485424063 | F10 | c.1029C>G (p.Leu343=) c.*20C>G (n.*20C>G) c.897C>G (p.Leu299=) | |
13 | g.113149079C>T | CA485424064 | F10 | c.1029C>T (p.Leu343=) c.*20C>T (n.*20C>T) c.897C>T (p.Leu299=) | |
13 | g.113149080C>A | CA388792675 | F10 | c.1030C>A (p.Pro344Thr) c.*21C>A (n.*21C>A) c.898C>A (p.Pro300Thr) | |
13 | g.113149080C>G | CA388792677 | F10 | c.1030C>G (p.Pro344Ala) c.*21C>G (n.*21C>G) c.898C>G (p.Pro300Ala) | |
13 | g.113149080C>T | CA388792679 | F10 | c.1030C>T (p.Pro344Ser) c.*21C>T (n.*21C>T) c.898C>T (p.Pro300Ser) | |
13 | g.113149081C>A | CA388792681 | F10 | c.1031C>A (p.Pro344His) c.*22C>A (n.*22C>A) c.899C>A (p.Pro300His) | COSMIC |
13 | g.113149081C>G | CA388792684 | F10 | c.1031C>G (p.Pro344Arg) c.*22C>G (n.*22C>G) c.899C>G (p.Pro300Arg) | gnomAD v4 |
13 | g.113149081C>T | CA388792686 | F10 | c.1031C>T (p.Pro344Leu) c.*22C>T (n.*22C>T) c.899C>T (p.Pro300Leu) | |
13 | g.113149082C>A | CA485424065 | F10 | c.1032C>A (p.Pro344=) c.*23C>A (n.*23C>A) c.900C>A (p.Pro300=) | COSMIC |
13 | g.113149082C= | CA2120140126 | F10 | c.1032C= (p.Pro344=) c.*23C= (n.*23C=) c.900C= (p.Pro300=) | |
13 | g.113149082C>G | CA485424066 | F10 | c.1032C>G (p.Pro344=) c.*23C>G (n.*23C>G) c.900C>G (p.Pro300=) | gnomAD v4 |
13 | g.113149082C>T | CA7060667 | F10 | c.1032C>T (p.Pro344=) c.*23C>T (n.*23C>T) c.900C>T (p.Pro300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149083G>A | CA7060668 | F10 | c.1033G>A (p.Glu345Lys) c.*24G>A (n.*24G>A) c.901G>A (p.Glu301Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149083G>C | CA388792692 | F10 | c.1033G>C (p.Glu345Gln) c.*24G>C (n.*24G>C) c.901G>C (p.Glu301Gln) | gnomAD v4 |
13 | g.113149083G= | CA2120140133 | F10 | c.1033G= (p.Glu345=) c.*24G= (n.*24G=) c.901G= (p.Glu301=) | |
13 | g.113149083G>T | CA388792694 | F10 | c.1033G>T (p.Glu345Ter) c.*24G>T (n.*24G>T) c.901G>T (p.Glu301Ter) | |
13 | g.113149084A>C | CA388792702 | F10 | c.1034A>C (p.Glu345Ala) c.*25A>C (n.*25A>C) c.902A>C (p.Glu301Ala) | |
13 | g.113149084A>G | CA388792700 | F10 | c.1034A>G (p.Glu345Gly) c.*25A>G (n.*25A>G) c.902A>G (p.Glu301Gly) | |
13 | g.113149084A>T | CA388792697 | F10 | c.1034A>T (p.Glu345Val) c.*25A>T (n.*25A>T) c.902A>T (p.Glu301Val) | |
13 | g.113149085G>A | CA7060669 | F10 | c.1035G>A (p.Glu345=) c.*26G>A (n.*26G>A) c.903G>A (p.Glu301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149085G>C | CA388792706 | F10 | c.1035G>C (p.Glu345Asp) c.*26G>C (n.*26G>C) c.903G>C (p.Glu301Asp) | |
13 | g.113149085G= | CA2120140137 | F10 | c.1035G= (p.Glu345=) c.*26G= (n.*26G=) c.903G= (p.Glu301=) | |
13 | g.113149085G>T | CA388792707 | F10 | c.1035G>T (p.Glu345Asp) c.*26G>T (n.*26G>T) c.903G>T (p.Glu301Asp) | |
13 | g.113149086C>A | CA388792709 | F10 | c.1036C>A (p.Arg346Ser) c.*27C>A (n.*27C>A) c.904C>A (p.Arg302Ser) | gnomAD v4 |
13 | g.113149086C= | CA2120140139 | F10 | c.1036C= (p.Arg346=) c.*27C= (n.*27C=) c.904C= (p.Arg302=) | |
13 | g.113149086C>G | CA388792710 | F10 | c.1036C>G (p.Arg346Gly) c.*27C>G (n.*27C>G) c.904C>G (p.Arg302Gly) | |
13 | g.113149086C>T | CA7060670 | F10 | c.1036C>T (p.Arg346Cys) c.*27C>T (n.*27C>T) c.904C>T (p.Arg302Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149087G>A | CA7060671 | F10 | c.1037G>A (p.Arg346His) c.*28G>A (n.*28G>A) c.905G>A (p.Arg302His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149087G>C | CA388792718 | F10 | c.1037G>C (p.Arg346Pro) c.*28G>C (n.*28G>C) c.905G>C (p.Arg302Pro) | |
13 | g.113149087G= | CA2120140142 | F10 | c.1037G= (p.Arg346=) c.*28G= (n.*28G=) c.905G= (p.Arg302=) | |
13 | g.113149087G>T | CA388792720 | F10 | c.1037G>T (p.Arg346Leu) c.*28G>T (n.*28G>T) c.905G>T (p.Arg302Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149088T>A | CA485424067 | F10 | c.1038T>A (p.Arg346=) c.*29T>A (n.*29T>A) c.906T>A (p.Arg302=) | |
13 | g.113149088T>C | CA485424068 | F10 | c.1038T>C (p.Arg346=) c.*29T>C (n.*29T>C) c.906T>C (p.Arg302=) | |
13 | g.113149088T>G | CA7060672 | F10 | c.1038T>G (p.Arg346=) c.*29T>G (n.*29T>G) c.906T>G (p.Arg302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149088T= | CA2120140146 | F10 | c.1038T= (p.Arg346=) c.*29T= (n.*29T=) c.906T= (p.Arg302=) | |
13 | g.113149089G>A | CA388792723 | F10 | c.1039G>A (p.Asp347Asn) c.*30G>A (n.*30G>A) c.907G>A (p.Asp303Asn) | gnomAD v4 |
13 | g.113149089G>C | CA388792725 | F10 | c.1039G>C (p.Asp347His) c.*30G>C (n.*30G>C) c.907G>C (p.Asp303His) | |
13 | g.113149089G>T | CA388792728 | F10 | c.1039G>T (p.Asp347Tyr) c.*30G>T (n.*30G>T) c.907G>T (p.Asp303Tyr) | |
13 | g.113149090A>C | CA388792733 | F10 | c.1040A>C (p.Asp347Ala) c.*31A>C (n.*31A>C) c.908A>C (p.Asp303Ala) | |
13 | g.113149090A>G | CA388792734 | F10 | c.1040A>G (p.Asp347Gly) c.*31A>G (n.*31A>G) c.908A>G (p.Asp303Gly) | gnomAD v4 |
13 | g.113149090A>T | CA388792731 | F10 | c.1040A>T (p.Asp347Val) c.*31A>T (n.*31A>T) c.908A>T (p.Asp303Val) | |
13 | g.113149091C>A | CA388792735 | F10 | c.1041C>A (p.Asp347Glu) c.*32C>A (n.*32C>A) c.909C>A (p.Asp303Glu) | |
13 | g.113149091C= | CA2120140149 | F10 | c.1041C= (p.Asp347=) c.*32C= (n.*32C=) c.909C= (p.Asp303=) | |
13 | g.113149091C>G | CA388792737 | F10 | c.1041C>G (p.Asp347Glu) c.*32C>G (n.*32C>G) c.909C>G (p.Asp303Glu) | |
13 | g.113149091C>T | CA485424069 | F10 | c.1041C>T (p.Asp347=) c.*32C>T (n.*32C>T) c.909C>T (p.Asp303=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149092T>A | CA388792738 | F10 | c.1042T>A (p.Trp348Arg) c.*33T>A (n.*33T>A) c.910T>A (p.Trp304Arg) | |
13 | g.113149092T>C | CA7060673 | F10 | c.1042T>C (p.Trp348Arg) c.*33T>C (n.*33T>C) c.910T>C (p.Trp304Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149092T>G | CA388792742 | F10 | c.1042T>G (p.Trp348Gly) c.*33T>G (n.*33T>G) c.910T>G (p.Trp304Gly) | |
13 | g.113149092T= | CA2120140151 | F10 | c.1042T= (p.Trp348=) c.*33T= (n.*33T=) c.910T= (p.Trp304=) | |
13 | g.113149093G>A | CA388792748 | F10 | c.1043G>A (p.Trp348Ter) c.*34G>A (n.*34G>A) c.911G>A (p.Trp304Ter) | ClinVar dbSNP |
13 | g.113149093G>C | CA388792746 | F10 | c.1043G>C (p.Trp348Ser) c.*34G>C (n.*34G>C) c.911G>C (p.Trp304Ser) | |
13 | g.113149093G= | CA2120140155 | F10 | c.1043G= (p.Trp348=) c.*34G= (n.*34G=) c.911G= (p.Trp304=) | |
13 | g.113149093G>T | CA388792745 | F10 | c.1043G>T (p.Trp348Leu) c.*34G>T (n.*34G>T) c.911G>T (p.Trp304Leu) | gnomAD v4 |
13 | g.113149094G>A | CA388792750 | F10 | c.1044G>A (p.Trp348Ter) c.*35G>A (n.*35G>A) c.912G>A (p.Trp304Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149094G>C | CA388792752 | F10 | c.1044G>C (p.Trp348Cys) c.*35G>C (n.*35G>C) c.912G>C (p.Trp304Cys) | |
13 | g.113149094G= | CA2120140160 | F10 | c.1044G= (p.Trp348=) c.*35G= (n.*35G=) c.912G= (p.Trp304=) | |
13 | g.113149094G>T | CA388792755 | F10 | c.1044G>T (p.Trp348Cys) c.*35G>T (n.*35G>T) c.912G>T (p.Trp304Cys) | |
13 | g.113149095G>A | CA7060674 | F10 | c.1045G>A (p.Ala349Thr) c.*36G>A (n.*36G>A) c.913G>A (p.Ala305Thr) | dbSNP ExAC gnomAD v2 |
13 | g.113149095G>C | CA388792757 | F10 | c.1045G>C (p.Ala349Pro) c.*36G>C (n.*36G>C) c.913G>C (p.Ala305Pro) | |
13 | g.113149095G= | CA2120140163 | F10 | c.1045G= (p.Ala349=) c.*36G= (n.*36G=) c.913G= (p.Ala305=) | |
13 | g.113149095G>T | CA388792758 | F10 | c.1045G>T (p.Ala349Ser) c.*36G>T (n.*36G>T) c.913G>T (p.Ala305Ser) | |
13 | g.113149096C>A | CA388792766 | F10 | c.1046C>A (p.Ala349Asp) c.*37C>A (n.*37C>A) c.914C>A (p.Ala305Asp) | |
13 | g.113149096C>G | CA388792761 | F10 | c.1046C>G (p.Ala349Gly) c.*37C>G (n.*37C>G) c.914C>G (p.Ala305Gly) | |
13 | g.113149096C>T | CA388792764 | F10 | c.1046C>T (p.Ala349Val) c.*37C>T (n.*37C>T) c.914C>T (p.Ala305Val) | |
13 | g.113149097C>A | CA485424070 | F10 | c.1047C>A (p.Ala349=) c.*38C>A (n.*38C>A) c.915C>A (p.Ala305=) | gnomAD v4 |
13 | g.113149097C= | CA2120140166 | F10 | c.1047C= (p.Ala349=) c.*38C= (n.*38C=) c.915C= (p.Ala305=) | |
13 | g.113149097C>G | CA485424071 | F10 | c.1047C>G (p.Ala349=) c.*38C>G (n.*38C>G) c.915C>G (p.Ala305=) | gnomAD v4 |
13 | g.113149097C>T | CA256478678 | F10 | c.1047C>T (p.Ala349=) c.*38C>T (n.*38C>T) c.915C>T (p.Ala305=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149098del | CA2623809576 | F10 | c.1048del (p.Glu350SerfsTer4) c.*39del (n.*39del) c.916del (p.Glu306SerfsTer4) | gnomAD v4 |
13 | g.113149098G>A | CA256478679 | F10 | c.1048G>A (p.Glu350Lys) c.*39G>A (n.*39G>A) c.916G>A (p.Glu306Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149098G>C | CA388792770 | F10 | c.1048G>C (p.Glu350Gln) c.*39G>C (n.*39G>C) c.916G>C (p.Glu306Gln) | |
13 | g.113149098G= | CA2120140169 | F10 | c.1048G= (p.Glu350=) c.*39G= (n.*39G=) c.916G= (p.Glu306=) | |
13 | g.113149098G>T | CA388792773 | F10 | c.1048G>T (p.Glu350Ter) c.*39G>T (n.*39G>T) c.916G>T (p.Glu306Ter) | |
13 | g.113149099A>C | CA388792775 | F10 | c.1049A>C (p.Glu350Ala) c.*40A>C (n.*40A>C) c.917A>C (p.Glu306Ala) | |
13 | g.113149099A>G | CA388792778 | F10 | c.1049A>G (p.Glu350Gly) c.*40A>G (n.*40A>G) c.917A>G (p.Glu306Gly) | |
13 | g.113149099A>T | CA388792780 | F10 | c.1049A>T (p.Glu350Val) c.*40A>T (n.*40A>T) c.917A>T (p.Glu306Val) | |
13 | g.113149100G>A | CA7060675 | F10 | c.1050G>A (p.Glu350=) c.*41G>A (n.*41G>A) c.918G>A (p.Glu306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149100G>C | CA388792783 | F10 | c.1050G>C (p.Glu350Asp) c.*41G>C (n.*41G>C) c.918G>C (p.Glu306Asp) | |
13 | g.113149100G= | CA2120140171 | F10 | c.1050G= (p.Glu350=) c.*41G= (n.*41G=) c.918G= (p.Glu306=) | |
13 | g.113149100G>T | CA388792785 | F10 | c.1050G>T (p.Glu350Asp) c.*41G>T (n.*41G>T) c.918G>T (p.Glu306Asp) | |
13 | g.113149101T>A | CA388792788 | F10 | c.1051T>A (p.Ser351Thr) c.*42T>A (n.*42T>A) c.919T>A (p.Ser307Thr) | |
13 | g.113149101T>C | CA388792789 | F10 | c.1051T>C (p.Ser351Pro) c.*42T>C (n.*42T>C) c.919T>C (p.Ser307Pro) | gnomAD v4 |
13 | g.113149101T>G | CA388792792 | F10 | c.1051T>G (p.Ser351Ala) c.*42T>G (n.*42T>G) c.919T>G (p.Ser307Ala) | |
13 | g.113149102C>A | CA388792794 | F10 | c.1052C>A (p.Ser351Tyr) c.*43C>A (n.*43C>A) c.920C>A (p.Ser307Tyr) | |
13 | g.113149102C>G | CA388792799 | F10 | c.1052C>G (p.Ser351Cys) c.*43C>G (n.*43C>G) c.920C>G (p.Ser307Cys) | |
13 | g.113149102C>T | CA388792796 | F10 | c.1052C>T (p.Ser351Phe) c.*43C>T (n.*43C>T) c.920C>T (p.Ser307Phe) | |
13 | g.113149103C>A | CA485424072 | F10 | c.1053C>A (p.Ser351=) c.*44C>A (n.*44C>A) c.921C>A (p.Ser307=) | COSMIC |
13 | g.113149103C>G | CA485424073 | F10 | c.1053C>G (p.Ser351=) c.*44C>G (n.*44C>G) c.921C>G (p.Ser307=) | |
13 | g.113149103C>T | CA485424074 | F10 | c.1053C>T (p.Ser351=) c.*44C>T (n.*44C>T) c.921C>T (p.Ser307=) | gnomAD v4 |
13 | g.113149104A>C | CA388792801 | F10 | c.1054A>C (p.Thr352Pro) c.*45A>C (n.*45A>C) c.922A>C (p.Thr308Pro) | |
13 | g.113149104A>G | CA388792802 | F10 | c.1054A>G (p.Thr352Ala) c.*45A>G (n.*45A>G) c.922A>G (p.Thr308Ala) | |
13 | g.113149104A>T | CA388792805 | F10 | c.1054A>T (p.Thr352Ser) c.*45A>T (n.*45A>T) c.922A>T (p.Thr308Ser) | |
13 | g.113149105C>A | CA388792808 | F10 | c.1055C>A (p.Thr352Lys) c.*46C>A (n.*46C>A) c.923C>A (p.Thr308Lys) | |
13 | g.113149105C= | CA2120140173 | F10 | c.1055C= (p.Thr352=) c.*46C= (n.*46C=) c.923C= (p.Thr308=) | |
13 | g.113149105C>G | CA388792809 | F10 | c.1055C>G (p.Thr352Arg) c.*46C>G (n.*46C>G) c.923C>G (p.Thr308Arg) | |
13 | g.113149105C>T | CA388792810 | F10 | c.1055C>T (p.Thr352Met) c.*46C>T (n.*46C>T) c.923C>T (p.Thr308Met) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149106G>A | CA7060676 | F10 | c.1056G>A (p.Thr352=) c.*47G>A (n.*47G>A) c.924G>A (p.Thr308=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149106G>C | CA485424075 | F10 | c.1056G>C (p.Thr352=) c.*47G>C (n.*47G>C) c.924G>C (p.Thr308=) | |
13 | g.113149106G= | CA2120140175 | F10 | c.1056G= (p.Thr352=) c.*47G= (n.*47G=) c.924G= (p.Thr308=) | |
13 | g.113149106G>T | CA485424076 | F10 | c.1056G>T (p.Thr352=) c.*47G>T (n.*47G>T) c.924G>T (p.Thr308=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149107C>A | CA388792813 | F10 | c.1057C>A (p.Leu353Met) c.*48C>A (n.*48C>A) c.925C>A (p.Leu309Met) | |
13 | g.113149107C>G | CA388792816 | F10 | c.1057C>G (p.Leu353Val) c.*48C>G (n.*48C>G) c.925C>G (p.Leu309Val) | |
13 | g.113149107C>T | CA485424077 | F10 | c.1057C>T (p.Leu353=) c.*48C>T (n.*48C>T) c.925C>T (p.Leu309=) | |
13 | g.113149107_113149108delinsCT | CA2120140177 | F10 | c.1057_1058delinsCT (p.Leu353=) c.*48_*49delinsCT (n.*48_*49delinsCT) c.925_926delinsCT (p.Leu309=) | |
13 | g.113149108del | CA7060677 | F10 | c.1058del (p.Leu353ArgfsTer2) c.*49del (n.*49del) c.926del (p.Leu309ArgfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149108T>A | CA388792818 | F10 | c.1058T>A (p.Leu353Gln) c.*49T>A (n.*49T>A) c.926T>A (p.Leu309Gln) | |
13 | g.113149108T>C | CA388792820 | F10 | c.1058T>C (p.Leu353Pro) c.*49T>C (n.*49T>C) c.926T>C (p.Leu309Pro) | gnomAD v4 |
13 | g.113149108T>G | CA388792823 | F10 | c.1058T>G (p.Leu353Arg) c.*49T>G (n.*49T>G) c.926T>G (p.Leu309Arg) | |
13 | g.113149109G>A | CA485424078 | F10 | c.1059G>A (p.Leu353=) c.*50G>A (n.*50G>A) c.927G>A (p.Leu309=) | |
13 | g.113149109G>C | CA256478684 | F10 | c.1059G>C (p.Leu353=) c.*50G>C (n.*50G>C) c.927G>C (p.Leu309=) | dbSNP gnomAD v4 |
13 | g.113149109G= | CA2120140179 | F10 | c.1059G= (p.Leu353=) c.*50G= (n.*50G=) c.927G= (p.Leu309=) | |
13 | g.113149109G>T | CA485424079 | F10 | c.1059G>T (p.Leu353=) c.*50G>T (n.*50G>T) c.927G>T (p.Leu309=) | |
13 | g.113149110A>C | CA388792830 | F10 | c.1060A>C (p.Met354Leu) c.*51A>C (n.*51A>C) c.928A>C (p.Met310Leu) | |
13 | g.113149110A>G | CA388792827 | F10 | c.1060A>G (p.Met354Val) c.*51A>G (n.*51A>G) c.928A>G (p.Met310Val) | |
13 | g.113149110A>T | CA388792829 | F10 | c.1060A>T (p.Met354Leu) c.*51A>T (n.*51A>T) c.928A>T (p.Met310Leu) | |
13 | g.113149111T>A | CA388792833 | F10 | c.1061T>A (p.Met354Lys) c.*52T>A (n.*52T>A) c.929T>A (p.Met310Lys) | |
13 | g.113149111T>C | CA388792836 | F10 | c.1061T>C (p.Met354Thr) c.*52T>C (n.*52T>C) c.929T>C (p.Met310Thr) | |
13 | g.113149111T>G | CA388792838 | F10 | c.1061T>G (p.Met354Arg) c.*52T>G (n.*52T>G) c.929T>G (p.Met310Arg) | |
13 | g.113149112G>A | CA388792841 | F10 | c.1062G>A (p.Met354Ile) c.*53G>A (n.*53G>A) c.930G>A (p.Met310Ile) | |
13 | g.113149112G>C | CA388792843 | F10 | c.1062G>C (p.Met354Ile) c.*53G>C (n.*53G>C) c.930G>C (p.Met310Ile) | |
13 | g.113149112G>T | CA388792845 | F10 | c.1062G>T (p.Met354Ile) c.*53G>T (n.*53G>T) c.930G>T (p.Met310Ile) | |
13 | g.113149113A= | CA2120140182 | F10 | c.1063A= (p.Thr355=) c.*54A= (n.*54A=) c.931A= (p.Thr311=) | |
13 | g.113149113A>C | CA388792848 | F10 | c.1063A>C (p.Thr355Pro) c.*54A>C (n.*54A>C) c.931A>C (p.Thr311Pro) | |
13 | g.113149113A>G | CA7060678 | F10 | c.1063A>G (p.Thr355Ala) c.*54A>G (n.*54A>G) c.931A>G (p.Thr311Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149113A>T | CA388792853 | F10 | c.1063A>T (p.Thr355Ser) c.*54A>T (n.*54A>T) c.931A>T (p.Thr311Ser) | |
13 | g.113149114C>A | CA7060679 | F10 | c.1064C>A (p.Thr355Lys) c.*55C>A (n.*55C>A) c.932C>A (p.Thr311Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149114C= | CA2120140183 | F10 | c.1064C= (p.Thr355=) c.*55C= (n.*55C=) c.932C= (p.Thr311=) | |
13 | g.113149114C>G | CA388792854 | F10 | c.1064C>G (p.Thr355Arg) c.*55C>G (n.*55C>G) c.932C>G (p.Thr311Arg) | |
13 | g.113149114C>T | CA388792856 | F10 | c.1064C>T (p.Thr355Met) c.*55C>T (n.*55C>T) c.932C>T (p.Thr311Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149115G>A | CA485424081 | F10 | c.1065G>A (p.Thr355=) c.*56G>A (n.*56G>A) c.933G>A (p.Thr311=) | dbSNP gnomAD v4 |
13 | g.113149115G>C | CA485424082 | F10 | c.1065G>C (p.Thr355=) c.*56G>C (n.*56G>C) c.933G>C (p.Thr311=) | |
13 | g.113149115G= | CA2120140185 | F10 | c.1065G= (p.Thr355=) c.*56G= (n.*56G=) c.933G= (p.Thr311=) | |
13 | g.113149115G>T | CA485424080 | F10 | c.1065G>T (p.Thr355=) c.*56G>T (n.*56G>T) c.933G>T (p.Thr311=) | |
13 | g.113149116C>A | CA388792864 | F10 | c.1066C>A (p.Gln356Lys) c.*57C>A (n.*57C>A) c.934C>A (p.Gln312Lys) | |
13 | g.113149116C>G | CA388792859 | F10 | c.1066C>G (p.Gln356Glu) c.*57C>G (n.*57C>G) c.934C>G (p.Gln312Glu) | |
13 | g.113149116C>T | CA388792862 | F10 | c.1066C>T (p.Gln356Ter) c.*57C>T (n.*57C>T) c.934C>T (p.Gln312Ter) | |
13 | g.113149117A= | CA2120140188 | F10 | c.1067A= (p.Gln356=) c.*58A= (n.*58A=) c.935A= (p.Gln312=) | |
13 | g.113149117A>C | CA388792866 | F10 | c.1067A>C (p.Gln356Pro) c.*58A>C (n.*58A>C) c.935A>C (p.Gln312Pro) | |
13 | g.113149117A>G | CA388792871 | F10 | c.1067A>G (p.Gln356Arg) c.*58A>G (n.*58A>G) c.935A>G (p.Gln312Arg) | dbSNP gnomAD v4 |
13 | g.113149117A>T | CA388792869 | F10 | c.1067A>T (p.Gln356Leu) c.*58A>T (n.*58A>T) c.935A>T (p.Gln312Leu) | |
13 | g.113149118G>A | CA485424083 | F10 | c.1068G>A (p.Gln356=) c.*59G>A (n.*59G>A) c.936G>A (p.Gln312=) | |
13 | g.113149118G>C | CA388792872 | F10 | c.1068G>C (p.Gln356His) c.*59G>C (n.*59G>C) c.936G>C (p.Gln312His) | |
13 | g.113149118G>T | CA388792874 | F10 | c.1068G>T (p.Gln356His) c.*59G>T (n.*59G>T) c.936G>T (p.Gln312His) | |
13 | g.113149119A= | CA2120140191 | F10 | c.1069A= (p.Lys357=) c.*60A= (n.*60A=) c.937A= (p.Lys313=) | |
13 | g.113149119A>C | CA388792876 | F10 | c.1069A>C (p.Lys357Gln) c.*60A>C (n.*60A>C) c.937A>C (p.Lys313Gln) | gnomAD v4 |
13 | g.113149119A>G | CA388792878 | F10 | c.1069A>G (p.Lys357Glu) c.*60A>G (n.*60A>G) c.937A>G (p.Lys313Glu) | dbSNP gnomAD v2 |
13 | g.113149119A>T | CA388792881 | F10 | c.1069A>T (p.Lys357Ter) c.*60A>T (n.*60A>T) c.937A>T (p.Lys313Ter) | |
13 | g.113149120A>C | CA388792883 | F10 | c.1070A>C (p.Lys357Thr) c.*61A>C (n.*61A>C) c.938A>C (p.Lys313Thr) | |
13 | g.113149120A>G | CA388792885 | F10 | c.1070A>G (p.Lys357Arg) c.*61A>G (n.*61A>G) c.938A>G (p.Lys313Arg) | |
13 | g.113149120A>T | CA388792886 | F10 | c.1070A>T (p.Lys357Met) c.*61A>T (n.*61A>T) c.938A>T (p.Lys313Met) | gnomAD v4 |
13 | g.113149121G>A | CA485424084 | F10 | c.1071G>A (p.Lys357=) c.*62G>A (n.*62G>A) c.939G>A (p.Lys313=) | COSMIC |
13 | g.113149121G>C | CA388792888 | F10 | c.1071G>C (p.Lys357Asn) c.*62G>C (n.*62G>C) c.939G>C (p.Lys313Asn) | |
13 | g.113149121G>T | CA388792889 | F10 | c.1071G>T (p.Lys357Asn) c.*62G>T (n.*62G>T) c.939G>T (p.Lys313Asn) | |
13 | g.113149122A>C | CA388792892 | F10 | c.1072A>C (p.Thr358Pro) c.*63A>C (n.*63A>C) c.940A>C (p.Thr314Pro) | |
13 | g.113149122A>G | CA388792894 | F10 | c.1072A>G (p.Thr358Ala) c.*63A>G (n.*63A>G) c.940A>G (p.Thr314Ala) | |
13 | g.113149122A>T | CA388792895 | F10 | c.1072A>T (p.Thr358Ser) c.*63A>T (n.*63A>T) c.940A>T (p.Thr314Ser) | |
13 | g.113149123C>A | CA388792899 | F10 | c.1073C>A (p.Thr358Lys) c.*64C>A (n.*64C>A) c.941C>A (p.Thr314Lys) | |
13 | g.113149123C= | CA2120140193 | F10 | c.1073C= (p.Thr358=) c.*64C= (n.*64C=) c.941C= (p.Thr314=) | |
13 | g.113149123C>G | CA388792902 | F10 | c.1073C>G (p.Thr358Arg) c.*64C>G (n.*64C>G) c.941C>G (p.Thr314Arg) | |
13 | g.113149123C>T | CA7060680 | F10 | c.1073C>T (p.Thr358Met) c.*64C>T (n.*64C>T) c.941C>T (p.Thr314Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149124G>A | CA7060681 | F10 | c.1074G>A (p.Thr358=) c.*65G>A (n.*65G>A) c.942G>A (p.Thr314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149124G>C | CA256478687 | F10 | c.1074G>C (p.Thr358=) c.*65G>C (n.*65G>C) c.942G>C (p.Thr314=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149124G= | CA2120140196 | F10 | c.1074G= (p.Thr358=) c.*65G= (n.*65G=) c.942G= (p.Thr314=) | |
13 | g.113149124G>T | CA485424096 | F10 | c.1074G>T (p.Thr358=) c.*65G>T (n.*65G>T) c.942G>T (p.Thr314=) | gnomAD v4 |
13 | g.113149127del | CA2623809597 | F10 | c.1077del (p.Ile360LeufsTer2) c.*68del (n.*68del) c.945del (p.Ile316LeufsTer2) | gnomAD v4 |
13 | g.113149125G>A | CA388792906 | F10 | c.1075G>A (p.Gly359Arg) c.*66G>A (n.*66G>A) c.943G>A (p.Gly315Arg) | |
13 | g.113149125G>C | CA388792908 | F10 | c.1075G>C (p.Gly359Arg) c.*66G>C (n.*66G>C) c.943G>C (p.Gly315Arg) | dbSNP gnomAD v4 |
13 | g.113149125G= | CA2120140199 | F10 | c.1075G= (p.Gly359=) c.*66G= (n.*66G=) c.943G= (p.Gly315=) | |
13 | g.113149125G>T | CA388792911 | F10 | c.1075G>T (p.Gly359Trp) c.*66G>T (n.*66G>T) c.943G>T (p.Gly315Trp) | |
13 | g.113149126G>A | CA388792914 | F10 | c.1076G>A (p.Gly359Glu) c.*67G>A (n.*67G>A) c.944G>A (p.Gly315Glu) | |
13 | g.113149126G>C | CA388792915 | F10 | c.1076G>C (p.Gly359Ala) c.*67G>C (n.*67G>C) c.944G>C (p.Gly315Ala) | gnomAD v4 |
13 | g.113149126G= | CA2120140202 | F10 | c.1076G= (p.Gly359=) c.*67G= (n.*67G=) c.944G= (p.Gly315=) | |
13 | g.113149126G>T | CA388792917 | F10 | c.1076G>T (p.Gly359Val) c.*67G>T (n.*67G>T) c.944G>T (p.Gly315Val) | dbSNP |
13 | g.113149127G>A | CA485424097 | F10 | c.1077G>A (p.Gly359=) c.*68G>A (n.*68G>A) c.945G>A (p.Gly315=) | |
13 | g.113149127G>C | CA485424100 | F10 | c.1077G>C (p.Gly359=) c.*68G>C (n.*68G>C) c.945G>C (p.Gly315=) | |
13 | g.113149127G>T | CA485424101 | F10 | c.1077G>T (p.Gly359=) c.*68G>T (n.*68G>T) c.945G>T (p.Gly315=) | gnomAD v4 |
13 | g.113149128A>C | CA388792919 | F10 | c.1078A>C (p.Ile360Leu) c.*69A>C (n.*69A>C) c.946A>C (p.Ile316Leu) | |
13 | g.113149128A>G | CA388792921 | F10 | c.1078A>G (p.Ile360Val) c.*69A>G (n.*69A>G) c.946A>G (p.Ile316Val) | |
13 | g.113149128A>T | CA388792923 | F10 | c.1078A>T (p.Ile360Phe) c.*69A>T (n.*69A>T) c.946A>T (p.Ile316Phe) | |
13 | g.113149129T>A | CA388792929 | F10 | c.1079T>A (p.Ile360Asn) c.*70T>A (n.*70T>A) c.947T>A (p.Ile316Asn) | |
13 | g.113149129T>C | CA388792928 | F10 | c.1079T>C (p.Ile360Thr) c.*70T>C (n.*70T>C) c.947T>C (p.Ile316Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149129T>G | CA388792925 | F10 | c.1079T>G (p.Ile360Ser) c.*70T>G (n.*70T>G) c.947T>G (p.Ile316Ser) | |
13 | g.113149129T= | CA2120140205 | F10 | c.1079T= (p.Ile360=) c.*70T= (n.*70T=) c.947T= (p.Ile316=) | |
13 | g.113149130T>A | CA485424103 | F10 | c.1080T>A (p.Ile360=) c.*71T>A (n.*71T>A) c.948T>A (p.Ile316=) | |
13 | g.113149130T>C | CA485424105 | F10 | c.1080T>C (p.Ile360=) c.*71T>C (n.*71T>C) c.948T>C (p.Ile316=) | |
13 | g.113149130T>G | CA388792932 | F10 | c.1080T>G (p.Ile360Met) c.*71T>G (n.*71T>G) c.948T>G (p.Ile316Met) | |
13 | g.113149131G>A | CA388792934 | F10 | c.1081G>A (p.Val361Met) c.*72G>A (n.*72G>A) c.949G>A (p.Val317Met) | |
13 | g.113149131G>C | CA388792936 | F10 | c.1081G>C (p.Val361Leu) c.*72G>C (n.*72G>C) c.949G>C (p.Val317Leu) | |
13 | g.113149131G>T | CA388792938 | F10 | c.1081G>T (p.Val361Leu) c.*72G>T (n.*72G>T) c.949G>T (p.Val317Leu) | |
13 | g.113149132T>A | CA388792940 | F10 | c.1082T>A (p.Val361Glu) c.*73T>A (n.*73T>A) c.950T>A (p.Val317Glu) | |
13 | g.113149132T>C | CA388792942 | F10 | c.1082T>C (p.Val361Ala) c.*73T>C (n.*73T>C) c.950T>C (p.Val317Ala) | |
13 | g.113149132T>G | CA388792944 | F10 | c.1082T>G (p.Val361Gly) c.*73T>G (n.*73T>G) c.950T>G (p.Val317Gly) | |
13 | g.113149133G>A | CA485424106 | F10 | c.1083G>A (p.Val361=) c.*74G>A (n.*74G>A) c.951G>A (p.Val317=) | dbSNP gnomAD v3 |
13 | g.113149133G>C | CA7060682 | F10 | c.1083G>C (p.Val361=) c.*74G>C (n.*74G>C) c.951G>C (p.Val317=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149133G= | CA2120140207 | F10 | c.1083G= (p.Val361=) c.*74G= (n.*74G=) c.951G= (p.Val317=) | |
13 | g.113149133G>T | CA485424108 | F10 | c.1083G>T (p.Val361=) c.*74G>T (n.*74G>T) c.951G>T (p.Val317=) | |
13 | g.113149134A>C | CA388792948 | F10 | c.1084A>C (p.Ser362Arg) c.*75A>C (n.*75A>C) c.952A>C (p.Ser318Arg) | |
13 | g.113149134A>G | CA388792950 | F10 | c.1084A>G (p.Ser362Gly) c.*75A>G (n.*75A>G) c.952A>G (p.Ser318Gly) | |
13 | g.113149134A>T | CA388792953 | F10 | c.1084A>T (p.Ser362Cys) c.*75A>T (n.*75A>T) c.952A>T (p.Ser318Cys) | |
13 | g.113149135G>A | CA388792956 | F10 | c.1085G>A (p.Ser362Asn) c.*76G>A (n.*76G>A) c.953G>A (p.Ser318Asn) | |
13 | g.113149135G>C | CA388792958 | F10 | c.1085G>C (p.Ser362Thr) c.*76G>C (n.*76G>C) c.953G>C (p.Ser318Thr) | |
13 | g.113149135G>T | CA388792960 | F10 | c.1085G>T (p.Ser362Ile) c.*76G>T (n.*76G>T) c.953G>T (p.Ser318Ile) | |
13 | g.113149136C>A | CA388792966 | F10 | c.1086C>A (p.Ser362Arg) c.*77C>A (n.*77C>A) c.954C>A (p.Ser318Arg) | dbSNP |
13 | g.113149136C= | CA2120140210 | F10 | c.1086C= (p.Ser362=) c.*77C= (n.*77C=) c.954C= (p.Ser318=) | |
13 | g.113149136C>G | CA388792963 | F10 | c.1086C>G (p.Ser362Arg) c.*77C>G (n.*77C>G) c.954C>G (p.Ser318Arg) | |
13 | g.113149136C>T | CA7060683 | F10 | c.1086C>T (p.Ser362=) c.*77C>T (n.*77C>T) c.954C>T (p.Ser318=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.113149137G>A | CA388792976 | F10 | c.1087G>A (p.Gly363Ser) c.*78G>A (n.*78G>A) c.955G>A (p.Gly319Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.113149137G>C | CA388792978 | F10 | c.1087G>C (p.Gly363Arg) c.*78G>C (n.*78G>C) c.955G>C (p.Gly319Arg) | |
13 | g.113149137G= | CA2120140214 | F10 | c.1087G= (p.Gly363=) c.*78G= (n.*78G=) c.955G= (p.Gly319=) | |
13 | g.113149137G>T | CA388792980 | F10 | c.1087G>T (p.Gly363Cys) c.*78G>T (n.*78G>T) c.955G>T (p.Gly319Cys) | |
13 | g.113149138G>A | CA388792984 | F10 | c.1088G>A (p.Gly363Asp) c.*79G>A (n.*79G>A) c.956G>A (p.Gly319Asp) | gnomAD v4 |
13 | g.113149138G>C | CA388792986 | F10 | c.1088G>C (p.Gly363Ala) c.*79G>C (n.*79G>C) c.956G>C (p.Gly319Ala) | gnomAD v4 |
13 | g.113149138G>T | CA388792987 | F10 | c.1088G>T (p.Gly363Val) c.*79G>T (n.*79G>T) c.956G>T (p.Gly319Val) | |
13 | g.113149139C>A | CA485424111 | F10 | c.1089C>A (p.Gly363=) c.*80C>A (n.*80C>A) c.957C>A (p.Gly319=) | |
13 | g.113149139C>G | CA485424113 | F10 | c.1089C>G (p.Gly363=) c.*80C>G (n.*80C>G) c.957C>G (p.Gly319=) | |
13 | g.113149139C>T | CA485424114 | F10 | c.1089C>T (p.Gly363=) c.*80C>T (n.*80C>T) c.957C>T (p.Gly319=) | |
13 | g.113149140T>A | CA388792988 | F10 | c.1090T>A (p.Phe364Ile) c.*81T>A (n.*81T>A) c.958T>A (p.Phe320Ile) | |
13 | g.113149140T>C | CA388792989 | F10 | c.1090T>C (p.Phe364Leu) c.*81T>C (n.*81T>C) c.958T>C (p.Phe320Leu) | |
13 | g.113149140T>G | CA388792991 | F10 | c.1090T>G (p.Phe364Val) c.*81T>G (n.*81T>G) c.958T>G (p.Phe320Val) | |
13 | g.113149141T>A | CA388792992 | F10 | c.1091T>A (p.Phe364Tyr) c.*82T>A (n.*82T>A) c.959T>A (p.Phe320Tyr) | |
13 | g.113149141T>C | CA388792995 | F10 | c.1091T>C (p.Phe364Ser) c.*82T>C (n.*82T>C) c.959T>C (p.Phe320Ser) | |
13 | g.113149141T>G | CA388792997 | F10 | c.1091T>G (p.Phe364Cys) c.*82T>G (n.*82T>G) c.959T>G (p.Phe320Cys) | |
13 | g.113149142C>A | CA388793002 | F10 | c.1092C>A (p.Phe364Leu) c.*83C>A (n.*83C>A) c.960C>A (p.Phe320Leu) | |
13 | g.113149142C= | CA2120140219 | F10 | c.1092C= (p.Phe364=) c.*83C= (n.*83C=) c.960C= (p.Phe320=) | |
13 | g.113149142C>G | CA388793005 | F10 | c.1092C>G (p.Phe364Leu) c.*83C>G (n.*83C>G) c.960C>G (p.Phe320Leu) | |
13 | g.113149142C>T | CA7060684 | F10 | c.1092C>T (p.Phe364=) c.*83C>T (n.*83C>T) c.960C>T (p.Phe320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149143G>A | CA388793010 | F10 | c.1093G>A (p.Gly365Arg) c.*84G>A (n.*84G>A) c.961G>A (p.Gly321Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149143G>C | CA388793014 | F10 | c.1093G>C (p.Gly365Arg) c.*84G>C (n.*84G>C) c.961G>C (p.Gly321Arg) | |
13 | g.113149143G= | CA2120140221 | F10 | c.1093G= (p.Gly365=) c.*84G= (n.*84G=) c.961G= (p.Gly321=) | |
13 | g.113149143G>T | CA388793011 | F10 | c.1093G>T (p.Gly365Trp) c.*84G>T (n.*84G>T) c.961G>T (p.Gly321Trp) | |
13 | g.113149144G>A | CA388793017 | F10 | c.1094G>A (p.Gly365Glu) c.*85G>A (n.*85G>A) c.962G>A (p.Gly321Glu) | |
13 | g.113149144G>C | CA388793022 | F10 | c.1094G>C (p.Gly365Ala) c.*85G>C (n.*85G>C) c.962G>C (p.Gly321Ala) | |
13 | g.113149144G>T | CA388793019 | F10 | c.1094G>T (p.Gly365Val) c.*85G>T (n.*85G>T) c.962G>T (p.Gly321Val) | |
13 | g.113149145G>A | CA485424119 | F10 | c.1095G>A (p.Gly365=) c.*86G>A (n.*86G>A) c.963G>A (p.Gly321=) | |
13 | g.113149145G>C | CA485424117 | F10 | c.1095G>C (p.Gly365=) c.*86G>C (n.*86G>C) c.963G>C (p.Gly321=) | |
13 | g.113149145G>T | CA485424115 | F10 | c.1095G>T (p.Gly365=) c.*86G>T (n.*86G>T) c.963G>T (p.Gly321=) | |
13 | g.113149146del | CA2575514504 | F10 | c.1096del (p.Arg366AlafsTer?) c.*87del (n.*87del) c.964del (p.Arg322AlafsTer?) | gnomAD v4 |
13 | g.113149146C>A | CA388793024 | F10 | c.1096C>A (p.Arg366Ser) c.*87C>A (n.*87C>A) c.964C>A (p.Arg322Ser) | |
13 | g.113149146C= | CA2120140226 | F10 | c.1096C= (p.Arg366=) c.*87C= (n.*87C=) c.964C= (p.Arg322=) | |
13 | g.113149146C>G | CA388793026 | F10 | c.1096C>G (p.Arg366Gly) c.*87C>G (n.*87C>G) c.964C>G (p.Arg322Gly) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149146C>T | CA121837 | F10 | c.1096C>T (p.Arg366Cys) c.*87C>T (n.*87C>T) c.964C>T (p.Arg322Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149147G>A | CA7060685 | F10 | c.1097G>A (p.Arg366His) c.*88G>A (n.*88G>A) c.965G>A (p.Arg322His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149147G>C | CA388793029 | F10 | c.1097G>C (p.Arg366Pro) c.*88G>C (n.*88G>C) c.965G>C (p.Arg322Pro) | |
13 | g.113149147G= | CA2120140229 | F10 | c.1097G= (p.Arg366=) c.*88G= (n.*88G=) c.965G= (p.Arg322=) | |
13 | g.113149147G>T | CA388793031 | F10 | c.1097G>T (p.Arg366Leu) c.*88G>T (n.*88G>T) c.965G>T (p.Arg322Leu) | |
13 | g.113149148C>A | CA485424121 | F10 | c.1098C>A (p.Arg366=) c.*89C>A (n.*89C>A) c.966C>A (p.Arg322=) | |
13 | g.113149148C>G | CA485424122 | F10 | c.1098C>G (p.Arg366=) c.*89C>G (n.*89C>G) c.966C>G (p.Arg322=) | |
13 | g.113149148C>T | CA485424124 | F10 | c.1098C>T (p.Arg366=) c.*89C>T (n.*89C>T) c.966C>T (p.Arg322=) | |
13 | g.113149149A= | CA2120140232 | F10 | c.1099A= (p.Thr367=) c.*90A= (n.*90A=) c.967A= (p.Thr323=) | |
13 | g.113149149A>C | CA388793033 | F10 | c.1099A>C (p.Thr367Pro) c.*90A>C (n.*90A>C) c.967A>C (p.Thr323Pro) | dbSNP |
13 | g.113149149A>G | CA388793036 | F10 | c.1099A>G (p.Thr367Ala) c.*90A>G (n.*90A>G) c.967A>G (p.Thr323Ala) | dbSNP gnomAD v4 |
13 | g.113149149A>T | CA388793038 | F10 | c.1099A>T (p.Thr367Ser) c.*90A>T (n.*90A>T) c.967A>T (p.Thr323Ser) | |
13 | g.113149150C>A | CA388793040 | F10 | c.1100C>A (p.Thr367Asn) c.*91C>A (n.*91C>A) c.968C>A (p.Thr323Asn) | |
13 | g.113149150C>G | CA388793042 | F10 | c.1100C>G (p.Thr367Ser) c.*91C>G (n.*91C>G) c.968C>G (p.Thr323Ser) | |
13 | g.113149150C>T | CA388793044 | F10 | c.1100C>T (p.Thr367Ile) c.*91C>T (n.*91C>T) c.968C>T (p.Thr323Ile) | |
13 | g.113149151C>A | CA485424126 | F10 | c.1101C>A (p.Thr367=) c.*92C>A (n.*92C>A) c.969C>A (p.Thr323=) | |
13 | g.113149151C= | CA2120140235 | F10 | c.1101C= (p.Thr367=) c.*92C= (n.*92C=) c.969C= (p.Thr323=) | |
13 | g.113149151C>G | CA485424127 | F10 | c.1101C>G (p.Thr367=) c.*92C>G (n.*92C>G) c.969C>G (p.Thr323=) | |
13 | g.113149151C>T | CA256478691 | F10 | c.1101C>T (p.Thr367=) c.*92C>T (n.*92C>T) c.969C>T (p.Thr323=) | dbSNP gnomAD v4 |
13 | g.113149151_113149152insT | CA7060686 | F10 | c.1101_1102insT (p.His368SerfsTer?) c.*92_*93insT (n.*92_*93insT) c.969_970insT (p.His324SerfsTer?) | dbSNP ExAC |
13 | g.113149152C>A | CA388793047 | F10 | c.1102C>A (p.His368Asn) c.*93C>A (n.*93C>A) c.970C>A (p.His324Asn) | |
13 | g.113149152C>G | CA388793051 | F10 | c.1102C>G (p.His368Asp) c.*93C>G (n.*93C>G) c.970C>G (p.His324Asp) | |
13 | g.113149152C>T | CA388793049 | F10 | c.1102C>T (p.His368Tyr) c.*93C>T (n.*93C>T) c.970C>T (p.His324Tyr) | |
13 | g.113149153A= | CA2120140240 | F10 | c.1103A= (p.His368=) c.*94A= (n.*94A=) c.971A= (p.His324=) | |
13 | g.113149153A>C | CA388793054 | F10 | c.1103A>C (p.His368Pro) c.*94A>C (n.*94A>C) c.971A>C (p.His324Pro) | |
13 | g.113149153A>G | CA388793055 | F10 | c.1103A>G (p.His368Arg) c.*94A>G (n.*94A>G) c.971A>G (p.His324Arg) | dbSNP gnomAD v4 |
13 | g.113149153A>T | CA388793058 | F10 | c.1103A>T (p.His368Leu) c.*94A>T (n.*94A>T) c.971A>T (p.His324Leu) | |
13 | g.113149153_113149154delinsAC | CA2120140239 | F10 | c.1103_1104delinsAC (p.His368=) c.*94_*95delinsAC (n.*94_*95delinsAC) c.971_972delinsAC (p.His324=) | |
13 | g.113149154del | CA7060687 | F10 | c.1104del (p.His368GlnfsTer?) c.*95del (n.*95del) c.972del (p.His324GlnfsTer?) | dbSNP ExAC |
13 | g.113149154C>A | CA388793060 | F10 | c.1104C>A (p.His368Gln) c.*95C>A (n.*95C>A) c.972C>A (p.His324Gln) | |
13 | g.113149154C= | CA2120140243 | F10 | c.1104C= (p.His368=) c.*95C= (n.*95C=) c.972C= (p.His324=) | |
13 | g.113149154C>G | CA7060688 | F10 | c.1104C>G (p.His368Gln) c.*95C>G (n.*95C>G) c.972C>G (p.His324Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149154C>T | CA485424129 | F10 | c.1104C>T (p.His368=) c.*95C>T (n.*95C>T) c.972C>T (p.His324=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149155G>A | CA388793062 | F10 | c.1105G>A (p.Glu369Lys) c.*96G>A (n.*96G>A) c.973G>A (p.Glu325Lys) | ClinVar dbSNP COSMIC |
13 | g.113149155G>C | CA388793064 | F10 | c.1105G>C (p.Glu369Gln) c.*96G>C (n.*96G>C) c.973G>C (p.Glu325Gln) | |
13 | g.113149155G= | CA2120140247 | F10 | c.1105G= (p.Glu369=) c.*96G= (n.*96G=) c.973G= (p.Glu325=) | |
13 | g.113149155G>T | CA388793066 | F10 | c.1105G>T (p.Glu369Ter) c.*96G>T (n.*96G>T) c.973G>T (p.Glu325Ter) | |
13 | g.113149156A>C | CA388793073 | F10 | c.1106A>C (p.Glu369Ala) c.*97A>C (n.*97A>C) c.974A>C (p.Glu325Ala) | |
13 | g.113149156A>G | CA388793070 | F10 | c.1106A>G (p.Glu369Gly) c.*97A>G (n.*97A>G) c.974A>G (p.Glu325Gly) | |
13 | g.113149156A>T | CA388793069 | F10 | c.1106A>T (p.Glu369Val) c.*97A>T (n.*97A>T) c.974A>T (p.Glu325Val) |