UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39665770dup | CA2259200650 | TCAP | c.165dup (p.Gln56AlafsTer?) c.165dup (p.Gln56AlafsTer28) | dbSNP |
| 17 | g.39665769_39665786dup | CA626209139 | TCAP | c.164_181dup (p.Leu60_Val61insGlyGlnCysGlnValLeu) c.164_174+7dup | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665769G>A | CA399303835 | TCAP | c.164G>A (p.Gly55Glu) | |
| 17 | g.39665769G>C | CA399303837 | TCAP | c.164G>C (p.Gly55Ala) | |
| 17 | g.39665769G>T | CA399303839 | TCAP | c.164G>T (p.Gly55Val) | gnomAD v4 |
| 17 | g.39665770G>A | CA290433989 | TCAP | c.165G>A (p.Gly55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665770G>C | CA499889085 | TCAP | c.165G>C (p.Gly55=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665770G= | CA2259200654 | TCAP | c.165G= (p.Gly55=) | |
| 17 | g.39665770G>T | CA499889086 | TCAP | c.165G>T (p.Gly55=) | |
| 17 | g.39665771C>A | CA399303852 | TCAP | c.166C>A (p.Gln56Lys) | |
| 17 | g.39665771C= | CA2259200657 | TCAP | c.166C= (p.Gln56=) | |
| 17 | g.39665771C>G | CA399303850 | TCAP | c.166C>G (p.Gln56Glu) | |
| 17 | g.39665771C>T | CA399303846 | TCAP | c.166C>T (p.Gln56Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665772A>C | CA399303854 | TCAP | c.167A>C (p.Gln56Pro) | gnomAD v4 |
| 17 | g.39665772A>G | CA399303856 | TCAP | c.167A>G (p.Gln56Arg) | gnomAD v4 |
| 17 | g.39665772A>T | CA399303858 | TCAP | c.167A>T (p.Gln56Leu) | |
| 17 | g.39665773G>A | CA16615340 | TCAP | c.168G>A (p.Gln56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665773G>C | CA399303860 | TCAP | c.168G>C (p.Gln56His) | |
| 17 | g.39665773G= | CA2259200660 | TCAP | c.168G= (p.Gln56=) | |
| 17 | g.39665773G>T | CA399303864 | TCAP | c.168G>T (p.Gln56His) | |
| 17 | g.39665774T>A | CA399303867 | TCAP | c.169T>A (p.Cys57Ser) | |
| 17 | g.39665774T>C | CA10604666 | TCAP | c.169T>C (p.Cys57Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665774T>G | CA399303870 | TCAP | c.169T>G (p.Cys57Gly) | |
| 17 | g.39665774T= | CA2259200667 | TCAP | c.169T= (p.Cys57=) | |
| 17 | g.39665775G>A | CA8532868 | TCAP | c.170G>A (p.Cys57Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665775G>C | CA399303875 | TCAP | c.170G>C (p.Cys57Ser) | |
| 17 | g.39665775G= | CA2259200678 | TCAP | c.170G= (p.Cys57=) | |
| 17 | g.39665775G>T | CA399303878 | TCAP | c.170G>T (p.Cys57Phe) | |
| 17 | g.39665776C>A | CA290433996 | TCAP | c.171C>A (p.Cys57Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665776C= | CA2259200683 | TCAP | c.171C= (p.Cys57=) | |
| 17 | g.39665776C>G | CA8532869 | TCAP | c.171C>G (p.Cys57Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665776C>T | CA499889087 | TCAP | c.171C>T (p.Cys57=) | dbSNP |
| 17 | g.39665777C>A | CA399303884 | TCAP | c.172C>A (p.Gln58Lys) | gnomAD v4 |
| 17 | g.39665777C>G | CA399303887 | TCAP | c.172C>G (p.Gln58Glu) | ClinVar gnomAD v4 |
| 17 | g.39665777C>T | CA399303885 | TCAP | c.172C>T (p.Gln58Ter) | |
| 17 | g.39665778A= | CA2259200687 | TCAP | c.173A= (p.Gln58=) | |
| 17 | g.39665778A>C | CA399303892 | TCAP | c.173A>C (p.Gln58Pro) | |
| 17 | g.39665778A>G | CA399303895 | TCAP | c.173A>G (p.Gln58Arg) | dbSNP |
| 17 | g.39665778A>T | CA399303897 | TCAP | c.173A>T (p.Gln58Leu) | |
| 17 | g.39665779G>A | CA499889088 | TCAP | c.174G>A (p.Gln58=) | |
| 17 | g.39665779G>C | CA399303903 | TCAP | c.174G>C (p.Gln58His) | |
| 17 | g.39665779G>T | CA399303910 | TCAP | c.174G>T (p.Gln58His) | |
| 17 | g.39665780G>A | CA16620401 | TCAP | c.175G>A (p.Val59Met) c.174+1G>A (n.174+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665780G>C | CA399303914 | TCAP | c.175G>C (p.Val59Leu) c.174+1G>C (n.174+1G>C) | |
| 17 | g.39665780G= | CA2259200692 | TCAP | c.175G= (p.Val59=) c.174+1G= (n.174+1G=) | |
| 17 | g.39665780G>T | CA399303915 | TCAP | c.175G>T (p.Val59Leu) c.174+1G>T (n.174+1G>T) | gnomAD v4 |
| 17 | g.39665781T>A | CA399303917 | TCAP | c.176T>A (p.Val59Glu) c.174+2T>A (n.174+2T>A) | |
| 17 | g.39665781T>C | CA399303919 | TCAP | c.176T>C (p.Val59Ala) c.174+2T>C (n.174+2T>C) | dbSNP COSMIC |
| 17 | g.39665781T>G | CA399303920 | TCAP | c.176T>G (p.Val59Gly) c.174+2T>G (n.174+2T>G) | |
| 17 | g.39665781T= | CA2259200697 | TCAP | c.176T= (p.Val59=) c.174+2T= (n.174+2T=) | |
| 17 | g.39665782G>A | CA499889089 | TCAP | c.177G>A (p.Val59=) c.174+3G>A (n.174+3G>A) | gnomAD v4 |
| 17 | g.39665782G>C | CA499889090 | TCAP | c.177G>C (p.Val59=) c.174+3G>C (n.174+3G>C) | dbSNP |
| 17 | g.39665782G= | CA2259200700 | TCAP | c.177G= (p.Val59=) c.174+3G= (n.174+3G=) | |
| 17 | g.39665782G>T | CA499889091 | TCAP | c.177G>T (p.Val59=) c.174+3G>T (n.174+3G>T) | |
| 17 | g.39665783C>A | CA399303925 | TCAP | c.178C>A (p.Leu60Met) c.174+4C>A (n.174+4C>A) | gnomAD v4 |
| 17 | g.39665783C= | CA2259200703 | TCAP | c.178C= (p.Leu60=) c.174+4C= (n.174+4C=) | |
| 17 | g.39665783C>G | CA399303926 | TCAP | c.178C>G (p.Leu60Val) c.174+4C>G (n.174+4C>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665783C>T | CA8532870 | TCAP | c.178C>T (p.Leu60=) c.174+4C>T (n.174+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665784T>A | CA399303927 | TCAP | c.179T>A (p.Leu60Gln) c.174+5T>A (n.174+5T>A) | |
| 17 | g.39665784T>C | CA399303928 | TCAP | c.179T>C (p.Leu60Pro) c.174+5T>C (n.174+5T>C) | |
| 17 | g.39665784T>G | CA399303931 | TCAP | c.179T>G (p.Leu60Arg) c.174+5T>G (n.174+5T>G) | |
| 17 | g.39665785G>A | CA499889093 | TCAP | c.180G>A (p.Leu60=) c.174+6G>A (n.174+6G>A) | |
| 17 | g.39665785G>C | CA499889092 | TCAP | c.180G>C (p.Leu60=) c.174+6G>C (n.174+6G>C) | |
| 17 | g.39665785G>T | CA499889094 | TCAP | c.180G>T (p.Leu60=) c.174+6G>T (n.174+6G>T) | gnomAD v4 |
| 17 | g.39665786G>A | CA399303933 | TCAP | c.181G>A (p.Val61Met) c.174+7G>A (n.174+7G>A) | |
| 17 | g.39665786G>C | CA399303937 | TCAP | c.181G>C (p.Val61Leu) c.174+7G>C (n.174+7G>C) | |
| 17 | g.39665786G>T | CA399303941 | TCAP | c.181G>T (p.Val61Leu) c.174+7G>T (n.174+7G>T) | gnomAD v4 |
| 17 | g.39665787T>A | CA399303944 | TCAP | c.182T>A (p.Val61Glu) c.174+8T>A (n.174+8T>A) | |
| 17 | g.39665787T>C | CA399303947 | TCAP | c.182T>C (p.Val61Ala) c.174+8T>C (n.174+8T>C) | |
| 17 | g.39665787T>G | CA399303948 | TCAP | c.182T>G (p.Val61Gly) c.174+8T>G (n.174+8T>G) | |
| 17 | g.39665788G>A | CA499889095 | TCAP | c.183G>A (p.Val61=) c.174+9G>A (n.174+9G>A) | dbSNP |
| 17 | g.39665788G>C | CA499889096 | TCAP | c.183G>C (p.Val61=) c.174+9G>C (n.174+9G>C) | |
| 17 | g.39665788G= | CA2259200706 | TCAP | c.183G= (p.Val61=) c.174+9G= (n.174+9G=) | |
| 17 | g.39665788G>T | CA499889097 | TCAP | c.183G>T (p.Val61=) c.174+9G>T (n.174+9G>T) | |
| 17 | g.39665789C>A | CA399303952 | TCAP | c.184C>A (p.Gln62Lys) c.174+10C>A (n.174+10C>A) | |
| 17 | g.39665789C>G | CA399303956 | TCAP | c.184C>G (p.Gln62Glu) c.174+10C>G (n.174+10C>G) | |
| 17 | g.39665789C>T | CA399303960 | TCAP | c.184C>T (p.Gln62Ter) c.174+10C>T (n.174+10C>T) | ClinVar gnomAD v4 |
| 17 | g.39665790A>C | CA399303965 | TCAP | c.185A>C (p.Gln62Pro) c.174+11A>C (n.174+11A>C) | |
| 17 | g.39665790A>G | CA399303968 | TCAP | c.185A>G (p.Gln62Arg) c.174+11A>G (n.174+11A>G) | gnomAD v4 |
| 17 | g.39665790A>T | CA399303969 | TCAP | c.185A>T (p.Gln62Leu) c.174+11A>T (n.174+11A>T) | |
| 17 | g.39665791G>A | CA499889098 | TCAP | c.186G>A (p.Gln62=) c.174+12G>A (n.174+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665791G>C | CA399303970 | TCAP | c.186G>C (p.Gln62His) c.174+12G>C (n.174+12G>C) | |
| 17 | g.39665791G= | CA2259200709 | TCAP | c.186G= (p.Gln62=) c.174+12G= (n.174+12G=) | |
| 17 | g.39665791G>T | CA399303971 | TCAP | c.186G>T (p.Gln62His) c.174+12G>T (n.174+12G>T) | |
| 17 | g.39665792C>A | CA399303972 | TCAP | c.187C>A (p.Arg63Ser) c.174+13C>A (n.174+13C>A) | gnomAD v4 |
| 17 | g.39665792C= | CA2259200713 | TCAP | c.187C= (p.Arg63=) c.174+13C= (n.174+13C=) | |
| 17 | g.39665792C>G | CA399303974 | TCAP | c.187C>G (p.Arg63Gly) c.174+13C>G (n.174+13C>G) | |
| 17 | g.39665792C>T | CA8532871 | TCAP | c.187C>T (p.Arg63Cys) c.174+13C>T (n.174+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665793G>A | CA8532872 | TCAP | c.188G>A (p.Arg63His) c.174+14G>A (n.174+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665793G>C | CA399303989 | TCAP | c.188G>C (p.Arg63Pro) c.174+14G>C (n.174+14G>C) | |
| 17 | g.39665793G= | CA2259200717 | TCAP | c.188G= (p.Arg63=) c.174+14G= (n.174+14G=) | |
| 17 | g.39665793G>T | CA399303996 | TCAP | c.188G>T (p.Arg63Leu) c.174+14G>T (n.174+14G>T) | |
| 17 | g.39665794C>A | CA499889099 | TCAP | c.189C>A (p.Arg63=) c.174+15C>A (n.174+15C>A) | |
| 17 | g.39665794C= | CA2259200719 | TCAP | c.189C= (p.Arg63=) c.174+15C= (n.174+15C=) | |
| 17 | g.39665794C>G | CA499889100 | TCAP | c.189C>G (p.Arg63=) c.174+15C>G (n.174+15C>G) | |
| 17 | g.39665794C>T | CA499889101 | TCAP | c.189C>T (p.Arg63=) c.174+15C>T (n.174+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665795T>A | CA399304001 | TCAP | c.190T>A (p.Ser64Thr) c.174+16T>A (n.174+16T>A) | gnomAD v4 |
| 17 | g.39665795T>C | CA399304004 | TCAP | c.190T>C (p.Ser64Pro) c.174+16T>C (n.174+16T>C) | gnomAD v4 |
| 17 | g.39665795T>G | CA399304008 | TCAP | c.190T>G (p.Ser64Ala) c.174+16T>G (n.174+16T>G) | |
| 17 | g.39665796C>A | CA399304018 | TCAP | c.191C>A (p.Ser64Ter) c.174+17C>A (n.174+17C>A) | |
| 17 | g.39665796C= | CA2259200722 | TCAP | c.191C= (p.Ser64=) c.174+17C= (n.174+17C=) | |
| 17 | g.39665796C>G | CA399304021 | TCAP | c.191C>G (p.Ser64Trp) c.174+17C>G (n.174+17C>G) | |
| 17 | g.39665796C>T | CA282448 | TCAP | c.191C>T (p.Ser64Leu) c.174+17C>T (n.174+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665797G>A | CA8532873 | TCAP | c.192G>A (p.Ser64=) c.174+18G>A (n.174+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665797G>C | CA499889103 | TCAP | c.192G>C (p.Ser64=) c.174+18G>C (n.174+18G>C) | dbSNP |
| 17 | g.39665797G= | CA2259200730 | TCAP | c.192G= (p.Ser64=) c.174+18G= (n.174+18G=) | |
| 17 | g.39665797G>T | CA499889102 | TCAP | c.192G>T (p.Ser64=) c.174+18G>T (n.174+18G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665798C>A | CA399304029 | TCAP | c.193C>A (p.Pro65Thr) c.174+19C>A (n.174+19C>A) | |
| 17 | g.39665798C>G | CA399304035 | TCAP | c.193C>G (p.Pro65Ala) c.174+19C>G (n.174+19C>G) | |
| 17 | g.39665798C>T | CA399304031 | TCAP | c.193C>T (p.Pro65Ser) c.174+19C>T (n.174+19C>T) | |
| 17 | g.39665800del | CA2637632657 | TCAP | c.195del (p.Trp66GlyfsTer2) c.174+21del (n.174+21del) | gnomAD v4 |
| 17 | g.39665799C>A | CA399304040 | TCAP | c.194C>A (p.Pro65His) c.174+20C>A (n.174+20C>A) | |
| 17 | g.39665799C= | CA2259200736 | TCAP | c.194C= (p.Pro65=) c.174+20C= (n.174+20C=) | |
| 17 | g.39665799C>G | CA399304042 | TCAP | c.194C>G (p.Pro65Arg) c.174+20C>G (n.174+20C>G) | |
| 17 | g.39665799C>T | CA399304044 | TCAP | c.194C>T (p.Pro65Leu) c.174+20C>T (n.174+20C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665800C>A | CA499889104 | TCAP | c.195C>A (p.Pro65=) c.174+21C>A (n.174+21C>A) | dbSNP |
| 17 | g.39665800C= | CA2259200742 | TCAP | c.195C= (p.Pro65=) c.174+21C= (n.174+21C=) | |
| 17 | g.39665800C>G | CA16608409 | TCAP | c.195C>G (p.Pro65=) c.174+21C>G (n.174+21C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665800C>T | CA499889105 | TCAP | c.195C>T (p.Pro65=) c.174+21C>T (n.174+21C>T) | ClinVar gnomAD v4 |
| 17 | g.39665801del | CA2637632663 | TCAP | c.196del (p.Trp66GlyfsTer2) c.174+22del (n.174+22del) | gnomAD v4 |
| 17 | g.39665801T>A | CA399304048 | TCAP | c.196T>A (p.Trp66Arg) c.174+22T>A (n.174+22T>A) | |
| 17 | g.39665801T>C | CA399304049 | TCAP | c.196T>C (p.Trp66Arg) c.174+22T>C (n.174+22T>C) | |
| 17 | g.39665801T>G | CA399304050 | TCAP | c.196T>G (p.Trp66Gly) c.174+22T>G (n.174+22T>G) | |
| 17 | g.39665802G>A | CA399304052 | TCAP | c.197G>A (p.Trp66Ter) c.174+23G>A (n.174+23G>A) | gnomAD v4 |
| 17 | g.39665802G>C | CA399304053 | TCAP | c.197G>C (p.Trp66Ser) c.174+23G>C (n.174+23G>C) | |
| 17 | g.39665802G>T | CA399304054 | TCAP | c.197G>T (p.Trp66Leu) c.174+23G>T (n.174+23G>T) | |
| 17 | g.39665803G>A | CA399304056 | TCAP | c.198G>A (p.Trp66Ter) c.174+24G>A (n.174+24G>A) | gnomAD v4 |
| 17 | g.39665803G>C | CA8532874 | TCAP | c.198G>C (p.Trp66Cys) c.174+24G>C (n.174+24G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665803G= | CA2259200745 | TCAP | c.198G= (p.Trp66=) c.174+24G= (n.174+24G=) | |
| 17 | g.39665803G>T | CA399304059 | TCAP | c.198G>T (p.Trp66Cys) c.174+24G>T (n.174+24G>T) | |
| 17 | g.39665804C>A | CA399304105 | TCAP | c.199C>A (p.Leu67Met) c.174+25C>A (n.174+25C>A) | |
| 17 | g.39665804C= | CA2259200749 | TCAP | c.199C= (p.Leu67=) c.174+25C= (n.174+25C=) | |
| 17 | g.39665804C>G | CA399304098 | TCAP | c.199C>G (p.Leu67Val) c.174+25C>G (n.174+25C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665804C>T | CA8532875 | TCAP | c.199C>T (p.Leu67=) c.174+25C>T (n.174+25C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665805T>A | CA399304109 | TCAP | c.200T>A (p.Leu67Gln) c.174+26T>A (n.174+26T>A) | |
| 17 | g.39665805T>C | CA399304111 | TCAP | c.200T>C (p.Leu67Pro) c.174+26T>C (n.174+26T>C) | |
| 17 | g.39665805T>G | CA399304116 | TCAP | c.200T>G (p.Leu67Arg) c.174+26T>G (n.174+26T>G) | |
| 17 | g.39665810_39665812del | CA2580613272 | TCAP | c.205_207del (p.Met69del) c.174+31_174+33del (n.174+31_174+33del) | ClinVar dbSNP |
| 17 | g.39665806G>A | CA499889108 | TCAP | c.201G>A (p.Leu67=) c.174+27G>A (n.174+27G>A) | ClinVar dbSNP |
| 17 | g.39665806G>C | CA499889106 | TCAP | c.201G>C (p.Leu67=) c.174+27G>C (n.174+27G>C) | COSMIC |
| 17 | g.39665806G= | CA2259200753 | TCAP | c.201G= (p.Leu67=) c.174+27G= (n.174+27G=) | |
| 17 | g.39665806G>T | CA499889107 | TCAP | c.201G>T (p.Leu67=) c.174+27G>T (n.174+27G>T) | |
| 17 | g.39665807A= | CA2259200757 | TCAP | c.202A= (p.Met68=) c.174+28A= (n.174+28A=) | |
| 17 | g.39665807A>C | CA399304122 | TCAP | c.202A>C (p.Met68Leu) c.174+28A>C (n.174+28A>C) | |
| 17 | g.39665807A>G | CA399304125 | TCAP | c.202A>G (p.Met68Val) c.174+28A>G (n.174+28A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665807A>T | CA8532876 | TCAP | c.202A>T (p.Met68Leu) c.174+28A>T (n.174+28A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665808T>A | CA399304146 | TCAP | c.203T>A (p.Met68Lys) c.174+29T>A (n.174+29T>A) | |
| 17 | g.39665808T>C | CA399304150 | TCAP | c.203T>C (p.Met68Thr) c.174+29T>C (n.174+29T>C) | dbSNP |
| 17 | g.39665808T>G | CA399304160 | TCAP | c.203T>G (p.Met68Arg) c.174+29T>G (n.174+29T>G) | |
| 17 | g.39665808T= | CA2259200758 | TCAP | c.203T= (p.Met68=) c.174+29T= (n.174+29T=) | |
| 17 | g.39665808_39665814delinsTGATGCG | CA2259200759 | TCAP | c.203_209delinsTGATGCG (p.Met68=) c.174+29_174+35delinsTGATGCG (n.174+29_174+35delinsTGATGCG) | |
| 17 | g.39665809G>A | CA399304161 | TCAP | c.204G>A (p.Met68Ile) c.174+30G>A (n.174+30G>A) | ClinVar dbSNP gnomAD v2 |
| 17 | g.39665809G>C | CA399304162 | TCAP | c.204G>C (p.Met68Ile) c.174+30G>C (n.174+30G>C) | |
| 17 | g.39665809G= | CA2259200761 | TCAP | c.204G= (p.Met68=) c.174+30G= (n.174+30G=) | |
| 17 | g.39665809G>T | CA399304163 | TCAP | c.204G>T (p.Met68Ile) c.174+30G>T (n.174+30G>T) | gnomAD v4 |
| 17 | g.39665813_39665818del | CA2259200760 | TCAP | c.208_213del (p.Arg70_Met71del) c.174+34_175-34del (n.174+34_175-34del) | dbSNP |
| 17 | g.39665810A>C | CA399304182 | TCAP | c.205A>C (p.Met69Leu) c.174+31A>C (n.174+31A>C) | |
| 17 | g.39665810A>G | CA399304170 | TCAP | c.205A>G (p.Met69Val) c.174+31A>G (n.174+31A>G) | |
| 17 | g.39665810A>T | CA399304167 | TCAP | c.205A>T (p.Met69Leu) c.174+31A>T (n.174+31A>T) | |
| 17 | g.39665811T>A | CA399304186 | TCAP | c.206T>A (p.Met69Lys) c.174+32T>A (n.174+32T>A) | |
| 17 | g.39665811T>C | CA399304185 | TCAP | c.206T>C (p.Met69Thr) c.174+32T>C (n.174+32T>C) | |
| 17 | g.39665811T>G | CA399304189 | TCAP | c.206T>G (p.Met69Arg) c.174+32T>G (n.174+32T>G) | |
| 17 | g.39665812G>A | CA399304194 | TCAP | c.207G>A (p.Met69Ile) c.174+33G>A (n.174+33G>A) | gnomAD v4 |
| 17 | g.39665812G>C | CA399304203 | TCAP | c.207G>C (p.Met69Ile) c.174+33G>C (n.174+33G>C) | |
| 17 | g.39665812G>T | CA399304199 | TCAP | c.207G>T (p.Met69Ile) c.174+33G>T (n.174+33G>T) | |
| 17 | g.39665813C>A | CA499889109 | TCAP | c.208C>A (p.Arg70=) c.174+34C>A (n.174+34C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665813C= | CA2259200762 | TCAP | c.208C= (p.Arg70=) c.174+34C= (n.174+34C=) | |
| 17 | g.39665813C>G | CA399304207 | TCAP | c.208C>G (p.Arg70Gly) c.174+34C>G (n.174+34C>G) | |
| 17 | g.39665813C>T | CA249987 | TCAP | c.208C>T (p.Arg70Trp) c.174+34C>T (n.174+34C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665814G>A | CA308840 | TCAP | c.209G>A (p.Arg70Gln) c.174+35G>A (n.174+35G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665814G>C | CA399304237 | TCAP | c.209G>C (p.Arg70Pro) c.174+35G>C (n.174+35G>C) | |
| 17 | g.39665814G= | CA2259200763 | TCAP | c.209G= (p.Arg70=) c.174+35G= (n.174+35G=) | |
| 17 | g.39665814G>T | CA399304242 | TCAP | c.209G>T (p.Arg70Leu) c.174+35G>T (n.174+35G>T) | |
| 17 | g.39665815G>A | CA499889112 | TCAP | c.210G>A (p.Arg70=) c.175-37G>A (n.175-37G>A) | |
| 17 | g.39665815G>C | CA499889111 | TCAP | c.210G>C (p.Arg70=) c.175-37G>C (n.175-37G>C) | dbSNP |
| 17 | g.39665815G= | CA2259200764 | TCAP | c.210G= (p.Arg70=) c.175-37G= (n.175-37G=) | |
| 17 | g.39665815G>T | CA499889110 | TCAP | c.210G>T (p.Arg70=) c.175-37G>T (n.175-37G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665816A= | CA2259200765 | TCAP | c.211A= (p.Met71=) c.175-36A= (n.175-36A=) | |
| 17 | g.39665816A>C | CA399304248 | TCAP | c.211A>C (p.Met71Leu) c.175-36A>C (n.175-36A>C) | dbSNP |
| 17 | g.39665816A>G | CA8532877 | TCAP | c.211A>G (p.Met71Val) c.175-36A>G (n.175-36A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665816A>T | CA399304255 | TCAP | c.211A>T (p.Met71Leu) c.175-36A>T (n.175-36A>T) | |
| 17 | g.39665817T>A | CA399304256 | TCAP | c.212T>A (p.Met71Lys) c.175-35T>A (n.175-35T>A) | |
| 17 | g.39665817T>C | CA8532878 | TCAP | c.212T>C (p.Met71Thr) c.175-35T>C (n.175-35T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665817T>G | CA399304260 | TCAP | c.212T>G (p.Met71Arg) c.175-35T>G (n.175-35T>G) | |
| 17 | g.39665817T= | CA2259200766 | TCAP | c.212T= (p.Met71=) c.175-35T= (n.175-35T=) | |
| 17 | g.39665818G>A | CA399304269 | TCAP | c.213G>A (p.Met71Ile) c.175-34G>A (n.175-34G>A) | gnomAD v4 |
| 17 | g.39665818G>C | CA399304268 | TCAP | c.213G>C (p.Met71Ile) c.175-34G>C (n.175-34G>C) | |
| 17 | g.39665818G>T | CA399304266 | TCAP | c.213G>T (p.Met71Ile) c.175-34G>T (n.175-34G>T) | gnomAD v4 |
| 17 | g.39665819G>A | CA399304272 | TCAP | c.214G>A (p.Gly72Ser) c.175-33G>A (n.175-33G>A) | COSMIC |
| 17 | g.39665819G>C | CA399304274 | TCAP | c.214G>C (p.Gly72Arg) c.175-33G>C (n.175-33G>C) | |
| 17 | g.39665819G>T | CA399304277 | TCAP | c.214G>T (p.Gly72Cys) c.175-33G>T (n.175-33G>T) | |
| 17 | g.39665820G>A | CA290434031 | TCAP | c.215G>A (p.Gly72Asp) c.175-32G>A (n.175-32G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665820G>C | CA399304279 | TCAP | c.215G>C (p.Gly72Ala) c.175-32G>C (n.175-32G>C) | |
| 17 | g.39665820G= | CA2259200767 | TCAP | c.215G= (p.Gly72=) c.175-32G= (n.175-32G=) | |
| 17 | g.39665820G>T | CA399304285 | TCAP | c.215G>T (p.Gly72Val) c.175-32G>T (n.175-32G>T) | |
| 17 | g.39665821C>A | CA499889114 | TCAP | c.216C>A (p.Gly72=) c.175-31C>A (n.175-31C>A) | dbSNP |
| 17 | g.39665821C= | CA2259200768 | TCAP | c.216C= (p.Gly72=) c.175-31C= (n.175-31C=) | |
| 17 | g.39665821C>G | CA499889115 | TCAP | c.216C>G (p.Gly72=) c.175-31C>G (n.175-31C>G) | |
| 17 | g.39665821C>T | CA499889113 | TCAP | c.216C>T (p.Gly72=) c.175-31C>T (n.175-31C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665822A>C | CA399304292 | TCAP | c.217A>C (p.Ile73Leu) c.175-30A>C (n.175-30A>C) | |
| 17 | g.39665822A>G | CA399304295 | TCAP | c.217A>G (p.Ile73Val) c.175-30A>G (n.175-30A>G) | ClinVar |
| 17 | g.39665822A>T | CA399304299 | TCAP | c.217A>T (p.Ile73Phe) c.175-30A>T (n.175-30A>T) | |
| 17 | g.39665823T>A | CA399304307 | TCAP | c.218T>A (p.Ile73Asn) c.175-29T>A (n.175-29T>A) | |
| 17 | g.39665823T>C | CA8532879 | TCAP | c.218T>C (p.Ile73Thr) c.175-29T>C (n.175-29T>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.39665823T>G | CA399304311 | TCAP | c.218T>G (p.Ile73Ser) c.175-29T>G (n.175-29T>G) | |
| 17 | g.39665823T= | CA2259200769 | TCAP | c.218T= (p.Ile73=) c.175-29T= (n.175-29T=) | |
| 17 | g.39665825_39665827del | CA2637632691 | TCAP | c.220_222del (p.Leu74del) c.175-27_175-25del (n.175-27_175-25del) | gnomAD v4 |
| 17 | g.39665824C>A | CA499889117 | TCAP | c.219C>A (p.Ile73=) c.175-28C>A (n.175-28C>A) | |
| 17 | g.39665824C>G | CA399304316 | TCAP | c.219C>G (p.Ile73Met) c.175-28C>G (n.175-28C>G) | |
| 17 | g.39665824C>T | CA499889116 | TCAP | c.219C>T (p.Ile73=) c.175-28C>T (n.175-28C>T) | |
| 17 | g.39665825C>A | CA399304326 | TCAP | c.220C>A (p.Leu74Ile) c.175-27C>A (n.175-27C>A) | |
| 17 | g.39665825C>G | CA399304321 | TCAP | c.220C>G (p.Leu74Val) c.175-27C>G (n.175-27C>G) | |
| 17 | g.39665825C>T | CA399304323 | TCAP | c.220C>T (p.Leu74Phe) c.175-27C>T (n.175-27C>T) | gnomAD v4 |
| 17 | g.39665826T>A | CA290434037 | TCAP | c.221T>A (p.Leu74His) c.175-26T>A (n.175-26T>A) | dbSNP |
| 17 | g.39665826T>C | CA399304335 | TCAP | c.221T>C (p.Leu74Pro) c.175-26T>C (n.175-26T>C) | |
| 17 | g.39665826T>G | CA399304339 | TCAP | c.221T>G (p.Leu74Arg) c.175-26T>G (n.175-26T>G) | |
| 17 | g.39665826T= | CA2259200770 | TCAP | c.221T= (p.Leu74=) c.175-26T= (n.175-26T=) | |
| 17 | g.39665827C>A | CA499889118 | TCAP | c.222C>A (p.Leu74=) c.175-25C>A (n.175-25C>A) | |
| 17 | g.39665827C= | CA2259200771 | TCAP | c.222C= (p.Leu74=) c.175-25C= (n.175-25C=) | |
| 17 | g.39665827C>G | CA499889119 | TCAP | c.222C>G (p.Leu74=) c.175-25C>G (n.175-25C>G) | |
| 17 | g.39665827C>T | CA8532880 | TCAP | c.222C>T (p.Leu74=) c.175-25C>T (n.175-25C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665828G>A | CA308843 | TCAP | c.223G>A (p.Gly75Ser) c.175-24G>A (n.175-24G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665828G>C | CA399304350 | TCAP | c.223G>C (p.Gly75Arg) c.175-24G>C (n.175-24G>C) | |
| 17 | g.39665828G= | CA2259200772 | TCAP | c.223G= (p.Gly75=) c.175-24G= (n.175-24G=) | |
| 17 | g.39665828G>T | CA399304355 | TCAP | c.223G>T (p.Gly75Cys) c.175-24G>T (n.175-24G>T) | ClinVar gnomAD v4 |
| 17 | g.39665829G>A | CA399304360 | TCAP | c.224G>A (p.Gly75Asp) c.175-23G>A (n.175-23G>A) | |
| 17 | g.39665829G>C | CA399304364 | TCAP | c.224G>C (p.Gly75Ala) c.175-23G>C (n.175-23G>C) | |
| 17 | g.39665829G>T | CA399304368 | TCAP | c.224G>T (p.Gly75Val) c.175-23G>T (n.175-23G>T) | |
| 17 | g.39665830C>A | CA499889120 | TCAP | c.225C>A (p.Gly75=) c.175-22C>A (n.175-22C>A) | ClinVar |
| 17 | g.39665830C= | CA2259200773 | TCAP | c.225C= (p.Gly75=) c.175-22C= (n.175-22C=) | |
| 17 | g.39665830C>G | CA499889121 | TCAP | c.225C>G (p.Gly75=) c.175-22C>G (n.175-22C>G) | |
| 17 | g.39665830C>T | CA8532881 | TCAP | c.225C>T (p.Gly75=) c.175-22C>T (n.175-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665831C>A | CA399304378 | TCAP | c.226C>A (p.Arg76Ser) c.175-21C>A (n.175-21C>A) | gnomAD v4 |
| 17 | g.39665831C= | CA2259200774 | TCAP | c.226C= (p.Arg76=) c.175-21C= (n.175-21C=) | |
| 17 | g.39665831C>G | CA399304379 | TCAP | c.226C>G (p.Arg76Gly) c.175-21C>G (n.175-21C>G) | |
| 17 | g.39665831C>T | CA308846 | TCAP | c.226C>T (p.Arg76Cys) c.175-21C>T (n.175-21C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665832G>A | CA8532882 | TCAP | c.227G>A (p.Arg76His) c.175-20G>A (n.175-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665832G>C | CA399304383 | TCAP | c.227G>C (p.Arg76Pro) c.175-20G>C (n.175-20G>C) | |
| 17 | g.39665832G= | CA2259200775 | TCAP | c.227G= (p.Arg76=) c.175-20G= (n.175-20G=) | |
| 17 | g.39665832G>T | CA399304384 | TCAP | c.227G>T (p.Arg76Leu) c.175-20G>T (n.175-20G>T) | |
| 17 | g.39665833T>A | CA499889122 | TCAP | c.228T>A (p.Arg76=) c.175-19T>A (n.175-19T>A) | |
| 17 | g.39665833T>C | CA499889124 | TCAP | c.228T>C (p.Arg76=) c.175-19T>C (n.175-19T>C) | |
| 17 | g.39665833T>G | CA499889123 | TCAP | c.228T>G (p.Arg76=) c.175-19T>G (n.175-19T>G) | |
| 17 | g.39665834G>A | CA399304386 | TCAP | c.229G>A (p.Gly77Arg) c.175-18G>A (n.175-18G>A) | gnomAD v4 |
| 17 | g.39665834G>C | CA399304388 | TCAP | c.229G>C (p.Gly77Arg) c.175-18G>C (n.175-18G>C) | |
| 17 | g.39665834G>T | CA399304390 | TCAP | c.229G>T (p.Gly77Trp) c.175-18G>T (n.175-18G>T) | |
| 17 | g.39665834_39665839dup | CA2637632711 | TCAP | c.229_234dup (p.Leu78_Gln79insGlyLeu) c.175-18_175-13dup (n.175-18_175-13dup) | gnomAD v4 |
| 17 | g.39665835G>A | CA399304391 | TCAP | c.230G>A (p.Gly77Glu) c.175-17G>A (n.175-17G>A) | |
| 17 | g.39665835G>C | CA399304394 | TCAP | c.230G>C (p.Gly77Ala) c.175-17G>C (n.175-17G>C) | |
| 17 | g.39665835G>T | CA399304396 | TCAP | c.230G>T (p.Gly77Val) c.175-17G>T (n.175-17G>T) | |
| 17 | g.39665836G>A | CA499889127 | TCAP | c.231G>A (p.Gly77=) c.175-16G>A (n.175-16G>A) | gnomAD v4 |
| 17 | g.39665836G>C | CA499889126 | TCAP | c.231G>C (p.Gly77=) c.175-16G>C (n.175-16G>C) | |
| 17 | g.39665836G>T | CA499889125 | TCAP | c.231G>T (p.Gly77=) c.175-16G>T (n.175-16G>T) | |
| 17 | g.39665837C>A | CA399304399 | TCAP | c.232C>A (p.Leu78Met) c.175-15C>A (n.175-15C>A) | |
| 17 | g.39665837C>G | CA399304400 | TCAP | c.232C>G (p.Leu78Val) c.175-15C>G (n.175-15C>G) | |
| 17 | g.39665837C>T | CA499889128 | TCAP | c.232C>T (p.Leu78=) c.175-15C>T (n.175-15C>T) | gnomAD v4 |
| 17 | g.39665838T>A | CA399304403 | TCAP | c.233T>A (p.Leu78Gln) c.175-14T>A (n.175-14T>A) | |
| 17 | g.39665838T>C | CA399304405 | TCAP | c.233T>C (p.Leu78Pro) c.175-14T>C (n.175-14T>C) | |
| 17 | g.39665838T>G | CA399304402 | TCAP | c.233T>G (p.Leu78Arg) c.175-14T>G (n.175-14T>G) | gnomAD v4 |
| 17 | g.39665839G>A | CA499889129 | TCAP | c.234G>A (p.Leu78=) c.175-13G>A (n.175-13G>A) | |
| 17 | g.39665839G>C | CA499889131 | TCAP | c.234G>C (p.Leu78=) c.175-13G>C (n.175-13G>C) | |
| 17 | g.39665839G>T | CA499889130 | TCAP | c.234G>T (p.Leu78=) c.175-13G>T (n.175-13G>T) | gnomAD v4 |
| 17 | g.39665840C>A | CA399304407 | TCAP | c.235C>A (p.Gln79Lys) c.175-12C>A (n.175-12C>A) | |
| 17 | g.39665840C>G | CA399304411 | TCAP | c.235C>G (p.Gln79Glu) c.175-12C>G (n.175-12C>G) | |
| 17 | g.39665840C>T | CA399304412 | TCAP | c.235C>T (p.Gln79Ter) c.175-12C>T (n.175-12C>T) | COSMIC |
| 17 | g.39665841A= | CA2259200776 | TCAP | c.236A= (p.Gln79=) c.175-11A= (n.175-11A=) | |
| 17 | g.39665841A>C | CA399304415 | TCAP | c.236A>C (p.Gln79Pro) c.175-11A>C (n.175-11A>C) | |
| 17 | g.39665841A>G | CA399304417 | TCAP | c.236A>G (p.Gln79Arg) c.175-11A>G (n.175-11A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665841A>T | CA399304418 | TCAP | c.236A>T (p.Gln79Leu) c.175-11A>T (n.175-11A>T) | |
| 17 | g.39665842G>A | CA499889132 | TCAP | c.237G>A (p.Gln79=) c.175-10G>A (n.175-10G>A) | ClinVar |
| 17 | g.39665842G>C | CA399304420 | TCAP | c.237G>C (p.Gln79His) c.175-10G>C (n.175-10G>C) | |
| 17 | g.39665842G>T | CA399304422 | TCAP | c.237G>T (p.Gln79His) c.175-10G>T (n.175-10G>T) | |
| 17 | g.39665843G>A | CA399304426 | TCAP | c.238G>A (p.Glu80Lys) c.175-9G>A (n.175-9G>A) | |
| 17 | g.39665843G>C | CA399304427 | TCAP | c.238G>C (p.Glu80Gln) c.175-9G>C (n.175-9G>C) | gnomAD v4 |
| 17 | g.39665843G>T | CA399304429 | TCAP | c.238G>T (p.Glu80Ter) c.175-9G>T (n.175-9G>T) | |
| 17 | g.39665844A>C | CA399304432 | TCAP | c.239A>C (p.Glu80Ala) c.175-8A>C (n.175-8A>C) | |
| 17 | g.39665844A>G | CA399304433 | TCAP | c.239A>G (p.Glu80Gly) c.175-8A>G (n.175-8A>G) | ClinVar dbSNP |
| 17 | g.39665844A>T | CA399304435 | TCAP | c.239A>T (p.Glu80Val) c.175-8A>T (n.175-8A>T) | |
| 17 | g.39665845G>A | CA499889133 | TCAP | c.240G>A (p.Glu80=) c.175-7G>A (n.175-7G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665845G>C | CA399304440 | TCAP | c.240G>C (p.Glu80Asp) c.175-7G>C (n.175-7G>C) | |
| 17 | g.39665845G= | CA2259200777 | TCAP | c.240G= (p.Glu80=) c.175-7G= (n.175-7G=) | |
| 17 | g.39665845G>T | CA8532883 | TCAP | c.240G>T (p.Glu80Asp) c.175-7G>T (n.175-7G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665846T>A | CA399304443 | TCAP | c.241T>A (p.Tyr81Asn) c.175-6T>A (n.175-6T>A) | |
| 17 | g.39665846T>C | CA399304447 | TCAP | c.241T>C (p.Tyr81His) c.175-6T>C (n.175-6T>C) | gnomAD v4 |
| 17 | g.39665846T>G | CA399304451 | TCAP | c.241T>G (p.Tyr81Asp) c.175-6T>G (n.175-6T>G) | |
| 17 | g.39665847A= | CA2259200778 | TCAP | c.242A= (p.Tyr81=) c.175-5A= (n.175-5A=) | |
| 17 | g.39665847A>C | CA399304454 | TCAP | c.242A>C (p.Tyr81Ser) c.175-5A>C (n.175-5A>C) | dbSNP |
| 17 | g.39665847A>G | CA399304455 | TCAP | c.242A>G (p.Tyr81Cys) c.175-5A>G (n.175-5A>G) | |
| 17 | g.39665847A>T | CA399304456 | TCAP | c.242A>T (p.Tyr81Phe) c.175-5A>T (n.175-5A>T) | |
| 17 | g.39665848C>A | CA399304458 | TCAP | c.243C>A (p.Tyr81Ter) c.175-4C>A (n.175-4C>A) | |
| 17 | g.39665848C>G | CA399304457 | TCAP | c.243C>G (p.Tyr81Ter) c.175-4C>G (n.175-4C>G) | |
| 17 | g.39665848C>T | CA499889134 | TCAP | c.243C>T (p.Tyr81=) c.175-4C>T (n.175-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665849C>A | CA399304462 | TCAP | c.244C>A (p.Gln82Lys) c.175-3C>A (n.175-3C>A) | gnomAD v4 |
| 17 | g.39665849C>G | CA399304466 | TCAP | c.244C>G (p.Gln82Glu) c.175-3C>G (n.175-3C>G) | |
| 17 | g.39665849C>T | CA399304469 | TCAP | c.244C>T (p.Gln82Ter) c.175-3C>T (n.175-3C>T) | gnomAD v4 |
| 17 | g.39665850A>C | CA399304485 | TCAP | c.245A>C (p.Gln82Pro) c.175-2A>C (n.175-2A>C) | |
| 17 | g.39665850A>G | CA399304489 | TCAP | c.245A>G (p.Gln82Arg) c.175-2A>G (n.175-2A>G) | |
| 17 | g.39665850A>T | CA399304492 | TCAP | c.245A>T (p.Gln82Leu) c.175-2A>T (n.175-2A>T) | |
| 17 | g.39665851G>A | CA399304495 | TCAP | c.246G>A (p.Gln82=) c.175-1G>A (n.175-1G>A) | dbSNP gnomAD v2 |
| 17 | g.39665851G>C | CA399304502 | TCAP | c.246G>C (p.Gln82His) c.175-1G>C (n.175-1G>C) | |
| 17 | g.39665851G= | CA2259200779 | TCAP | c.246G= (p.Gln82=) c.175-1G= (n.175-1G=) | |
| 17 | g.39665851G>T | CA399304497 | TCAP | c.246G>T (p.Gln82His) c.175-1G>T (n.175-1G>T) | |
| 17 | g.39665858_39665881del | CA2637632742 | TCAP | c.253_276del (p.Tyr85_Pro92del) c.181_204del | gnomAD v4 |
| 17 | g.39665852C>A | CA399304506 | TCAP | c.247C>A (p.Leu83Met) c.175C>A (p.Leu59Met) | gnomAD v4 |
| 17 | g.39665852C= | CA2259200780 | TCAP | c.247C= (p.Leu83=) c.175C= (p.Leu59=) | |
| 17 | g.39665852C>G | CA399304508 | TCAP | c.247C>G (p.Leu83Val) c.175C>G (p.Leu59Val) | gnomAD v4 |
| 17 | g.39665852C>T | CA499889135 | TCAP | c.247C>T (p.Leu83=) c.175C>T (p.Leu59=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665853T>A | CA399304516 | TCAP | c.248T>A (p.Leu83Gln) c.176T>A (p.Leu59Gln) | |
| 17 | g.39665853T>C | CA399304518 | TCAP | c.248T>C (p.Leu83Pro) c.176T>C (p.Leu59Pro) | |
| 17 | g.39665853T>G | CA399304521 | TCAP | c.248T>G (p.Leu83Arg) c.176T>G (p.Leu59Arg) | |
| 17 | g.39665854G>A | CA499889136 | TCAP | c.249G>A (p.Leu83=) c.177G>A (p.Leu59=) | gnomAD v4 |
| 17 | g.39665854G>C | CA499889137 | TCAP | c.249G>C (p.Leu83=) c.177G>C (p.Leu59=) | |
| 17 | g.39665854G>T | CA499889138 | TCAP | c.249G>T (p.Leu83=) c.177G>T (p.Leu59=) | |
| 17 | g.39665855C>A | CA399304535 | TCAP | c.250C>A (p.Pro84Thr) c.178C>A (p.Pro60Thr) | |
| 17 | g.39665855C>G | CA399304530 | TCAP | c.250C>G (p.Pro84Ala) c.178C>G (p.Pro60Ala) | |
| 17 | g.39665855C>T | CA399304524 | TCAP | c.250C>T (p.Pro84Ser) c.178C>T (p.Pro60Ser) | gnomAD v4 COSMIC |
| 17 | g.39665856C>A | CA399304540 | TCAP | c.251C>A (p.Pro84His) c.179C>A (p.Pro60His) | |
| 17 | g.39665856C>G | CA399304544 | TCAP | c.251C>G (p.Pro84Arg) c.179C>G (p.Pro60Arg) | |
| 17 | g.39665856C>T | CA399304546 | TCAP | c.251C>T (p.Pro84Leu) c.179C>T (p.Pro60Leu) | |
| 17 | g.39665857C>A | CA499889139 | TCAP | c.252C>A (p.Pro84=) c.180C>A (p.Pro60=) | |
| 17 | g.39665857C= | CA2259200781 | TCAP | c.252C= (p.Pro84=) c.180C= (p.Pro60=) | |
| 17 | g.39665857C>G | CA499889141 | TCAP | c.252C>G (p.Pro84=) c.180C>G (p.Pro60=) | dbSNP |
| 17 | g.39665857C>T | CA499889140 | TCAP | c.252C>T (p.Pro84=) c.180C>T (p.Pro60=) | gnomAD v4 |
| 17 | g.39665858T>A | CA399304550 | TCAP | c.253T>A (p.Tyr85Asn) c.181T>A (p.Tyr61Asn) | |
| 17 | g.39665858T>C | CA399304554 | TCAP | c.253T>C (p.Tyr85His) c.181T>C (p.Tyr61His) | COSMIC |
| 17 | g.39665858T>G | CA399304558 | TCAP | c.253T>G (p.Tyr85Asp) c.181T>G (p.Tyr61Asp) | |
| 17 | g.39665859A>C | CA399304565 | TCAP | c.254A>C (p.Tyr85Ser) c.182A>C (p.Tyr61Ser) | |
| 17 | g.39665859A>G | CA399304572 | TCAP | c.254A>G (p.Tyr85Cys) c.182A>G (p.Tyr61Cys) | gnomAD v4 |
| 17 | g.39665859A>T | CA399304568 | TCAP | c.254A>T (p.Tyr85Phe) c.182A>T (p.Tyr61Phe) | |
| 17 | g.39665860C>A | CA399304590 | TCAP | c.255C>A (p.Tyr85Ter) c.183C>A (p.Tyr61Ter) | |
| 17 | g.39665860C>G | CA399304594 | TCAP | c.255C>G (p.Tyr85Ter) c.183C>G (p.Tyr61Ter) | |
| 17 | g.39665860C>T | CA499889142 | TCAP | c.255C>T (p.Tyr85=) c.183C>T (p.Tyr61=) | gnomAD v4 |
| 17 | g.39665861C>A | CA399304596 | TCAP | c.256C>A (p.Gln86Lys) c.184C>A (p.Gln62Lys) | gnomAD v4 |
| 17 | g.39665861C>G | CA399304600 | TCAP | c.256C>G (p.Gln86Glu) c.184C>G (p.Gln62Glu) | |
| 17 | g.39665861C>T | CA399304603 | TCAP | c.256C>T (p.Gln86Ter) c.184C>T (p.Gln62Ter) | gnomAD v4 |
| 17 | g.39665862A>C | CA399304608 | TCAP | c.257A>C (p.Gln86Pro) c.185A>C (p.Gln62Pro) | |
| 17 | g.39665862A>G | CA399304610 | TCAP | c.257A>G (p.Gln86Arg) c.185A>G (p.Gln62Arg) | |
| 17 | g.39665862A>T | CA399304614 | TCAP | c.257A>T (p.Gln86Leu) c.185A>T (p.Gln62Leu) | |
| 17 | g.39665863G>A | CA499889143 | TCAP | c.258G>A (p.Gln86=) c.186G>A (p.Gln62=) | gnomAD v4 |
| 17 | g.39665863G>C | CA399304619 | TCAP | c.258G>C (p.Gln86His) c.186G>C (p.Gln62His) | |
| 17 | g.39665863G>T | CA399304624 | TCAP | c.258G>T (p.Gln86His) c.186G>T (p.Gln62His) | |
| 17 | g.39665864C>A | CA499889144 | TCAP | c.259C>A (p.Arg87=) c.187C>A (p.Arg63=) | |
| 17 | g.39665864C= | CA2259200782 | TCAP | c.259C= (p.Arg87=) c.187C= (p.Arg63=) | |
| 17 | g.39665864C>G | CA399304629 | TCAP | c.259C>G (p.Arg87Gly) c.187C>G (p.Arg63Gly) | |
| 17 | g.39665864C>T | CA308817 | TCAP | c.259C>T (p.Arg87Trp) c.187C>T (p.Arg63Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665865G>A | CA253520 | TCAP | c.260G>A (p.Arg87Gln) c.188G>A (p.Arg63Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665865G>C | CA399304641 | TCAP | c.260G>C (p.Arg87Pro) c.188G>C (p.Arg63Pro) | |
| 17 | g.39665865G= | CA2259200783 | TCAP | c.260G= (p.Arg87=) c.188G= (p.Arg63=) | |
| 17 | g.39665865G>T | CA399304637 | TCAP | c.260G>T (p.Arg87Leu) c.188G>T (p.Arg63Leu) | |
| 17 | g.39665866G>A | CA499889145 | TCAP | c.261G>A (p.Arg87=) c.189G>A (p.Arg63=) | |
| 17 | g.39665866G>C | CA290434072 | TCAP | c.261G>C (p.Arg87=) c.189G>C (p.Arg63=) | dbSNP |
| 17 | g.39665866G= | CA2259200784 | TCAP | c.261G= (p.Arg87=) c.189G= (p.Arg63=) | |
| 17 | g.39665866G>T | CA8532884 | TCAP | c.261G>T (p.Arg87=) c.189G>T (p.Arg63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665867G>A | CA399304654 | TCAP | c.262G>A (p.Val88Ile) c.190G>A (p.Val64Ile) | gnomAD v4 |
| 17 | g.39665867G>C | CA399304649 | TCAP | c.262G>C (p.Val88Leu) c.190G>C (p.Val64Leu) | |
| 17 | g.39665867G= | CA2259200785 | TCAP | c.262G= (p.Val88=) c.190G= (p.Val64=) | |
| 17 | g.39665867G>T | CA8532885 | TCAP | c.262G>T (p.Val88Leu) c.190G>T (p.Val64Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665868T>A | CA399304658 | TCAP | c.263T>A (p.Val88Glu) c.191T>A (p.Val64Glu) | ClinVar |
| 17 | g.39665868T>C | CA399304661 | TCAP | c.263T>C (p.Val88Ala) c.191T>C (p.Val64Ala) | |
| 17 | g.39665868T>G | CA399304665 | TCAP | c.263T>G (p.Val88Gly) c.191T>G (p.Val64Gly) | |
| 17 | g.39665869A= | CA2259200786 | TCAP | c.264A= (p.Val88=) c.192A= (p.Val64=) | |
| 17 | g.39665869A>C | CA499889146 | TCAP | c.264A>C (p.Val88=) c.192A>C (p.Val64=) | |
| 17 | g.39665869A>G | CA499889147 | TCAP | c.264A>G (p.Val88=) c.192A>G (p.Val64=) | dbSNP |
| 17 | g.39665869A>T | CA8532886 | TCAP | c.264A>T (p.Val88=) c.192A>T (p.Val64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |