Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19972695_19972762delCA2818402549ARVCFc.2622_2641+48del
c.2433_2452+48del
c.2604_2623+48del
c.2415_2434+48del
n.1544_1563+48del
c.2376_2395+48del
c.2589_2608+48del
c.1188_1207+48del
c.1170_1189+48del
n.2709_2728+48del
22g.19972729C>ACA2655342395ARVCFc.2641+8G>T (n.2641+8G>T)
c.2452+8G>T (n.2452+8G>T)
c.2623+8G>T (n.2623+8G>T)
c.2434+8G>T (n.2434+8G>T)
n.1563+8G>T
c.2395+8G>T (n.2395+8G>T)
c.2608+8G>T (n.2608+8G>T)
c.1207+8G>T (n.1207+8G>T)
c.1189+8G>T (n.1189+8G>T)
n.2728+8G>T
 gnomAD v4
22g.19972729C=CA2396130765ARVCFc.2641+8G= (n.2641+8G=)
c.2452+8G= (n.2452+8G=)
c.2623+8G= (n.2623+8G=)
c.2434+8G= (n.2434+8G=)
n.1563+8G=
c.2395+8G= (n.2395+8G=)
c.2608+8G= (n.2608+8G=)
c.1207+8G= (n.1207+8G=)
c.1189+8G= (n.1189+8G=)
n.2728+8G=
22g.19972729C>TCA2396130766ARVCFc.2641+8G>A (n.2641+8G>A)
c.2452+8G>A (n.2452+8G>A)
c.2623+8G>A (n.2623+8G>A)
c.2434+8G>A (n.2434+8G>A)
n.1563+8G>A
c.2395+8G>A (n.2395+8G>A)
c.2608+8G>A (n.2608+8G>A)
c.1207+8G>A (n.1207+8G>A)
c.1189+8G>A (n.1189+8G>A)
n.2728+8G>A
 dbSNP gnomAD v4
22g.19972730C>ACA2655342396ARVCFc.2641+7G>T (n.2641+7G>T)
c.2452+7G>T (n.2452+7G>T)
c.2623+7G>T (n.2623+7G>T)
c.2434+7G>T (n.2434+7G>T)
n.1563+7G>T
c.2395+7G>T (n.2395+7G>T)
c.2608+7G>T (n.2608+7G>T)
c.1207+7G>T (n.1207+7G>T)
c.1189+7G>T (n.1189+7G>T)
n.2728+7G>T
 gnomAD v4
22g.19972733_19972736dupCA2741705385ARVCFc.2641+4_2641+7dup (n.2641+4_2641+7dup)
c.2452+4_2452+7dup (n.2452+4_2452+7dup)
c.2623+4_2623+7dup (n.2623+4_2623+7dup)
c.2434+4_2434+7dup (n.2434+4_2434+7dup)
n.1563+4_1563+7dup
c.2395+4_2395+7dup (n.2395+4_2395+7dup)
c.2608+4_2608+7dup (n.2608+4_2608+7dup)
c.1207+4_1207+7dup (n.1207+4_1207+7dup)
c.1189+4_1189+7dup (n.1189+4_1189+7dup)
n.2728+4_2728+7dup
22g.19972731delCA2655342397ARVCFc.2641+6del (n.2641+6del)
c.2452+6del (n.2452+6del)
c.2623+6del (n.2623+6del)
c.2434+6del (n.2434+6del)
n.1563+6del
c.2395+6del (n.2395+6del)
c.2608+6del (n.2608+6del)
c.1207+6del (n.1207+6del)
c.1189+6del (n.1189+6del)
n.2728+6del
 gnomAD v4
22g.19972731A>GCA2655342398ARVCFc.2641+6T>C (n.2641+6T>C)
c.2452+6T>C (n.2452+6T>C)
c.2623+6T>C (n.2623+6T>C)
c.2434+6T>C (n.2434+6T>C)
n.1563+6T>C
c.2395+6T>C (n.2395+6T>C)
c.2608+6T>C (n.2608+6T>C)
c.1207+6T>C (n.1207+6T>C)
c.1189+6T>C (n.1189+6T>C)
n.2728+6T>C
 gnomAD v4
22g.19972732C>ACA2655342399ARVCFc.2641+5G>T (n.2641+5G>T)
c.2452+5G>T (n.2452+5G>T)
c.2623+5G>T (n.2623+5G>T)
c.2434+5G>T (n.2434+5G>T)
n.1563+5G>T
c.2395+5G>T (n.2395+5G>T)
c.2608+5G>T (n.2608+5G>T)
c.1207+5G>T (n.1207+5G>T)
c.1189+5G>T (n.1189+5G>T)
n.2728+5G>T
 gnomAD v4
22g.19972732C>TCA2655342400ARVCFc.2641+5G>A (n.2641+5G>A)
c.2452+5G>A (n.2452+5G>A)
c.2623+5G>A (n.2623+5G>A)
c.2434+5G>A (n.2434+5G>A)
n.1563+5G>A
c.2395+5G>A (n.2395+5G>A)
c.2608+5G>A (n.2608+5G>A)
c.1207+5G>A (n.1207+5G>A)
c.1189+5G>A (n.1189+5G>A)
n.2728+5G>A
 gnomAD v4
22g.19972733T>CCA2655342401ARVCFc.2641+4A>G (n.2641+4A>G)
c.2452+4A>G (n.2452+4A>G)
c.2623+4A>G (n.2623+4A>G)
c.2434+4A>G (n.2434+4A>G)
n.1563+4A>G
c.2395+4A>G (n.2395+4A>G)
c.2608+4A>G (n.2608+4A>G)
c.1207+4A>G (n.1207+4A>G)
c.1189+4A>G (n.1189+4A>G)
n.2728+4A>G
 gnomAD v4
22g.19972734C>ACA2655342402ARVCFc.2641+3G>T (n.2641+3G>T)
c.2452+3G>T (n.2452+3G>T)
c.2623+3G>T (n.2623+3G>T)
c.2434+3G>T (n.2434+3G>T)
n.1563+3G>T
c.2395+3G>T (n.2395+3G>T)
c.2608+3G>T (n.2608+3G>T)
c.1207+3G>T (n.1207+3G>T)
c.1189+3G>T (n.1189+3G>T)
n.2728+3G>T
 gnomAD v4
22g.19972735A=CA2396130767ARVCFc.2641+2T= (n.2641+2T=)
c.2452+2T= (n.2452+2T=)
c.2623+2T= (n.2623+2T=)
c.2434+2T= (n.2434+2T=)
n.1563+2T=
c.2395+2T= (n.2395+2T=)
c.2608+2T= (n.2608+2T=)
c.1207+2T= (n.1207+2T=)
c.1189+2T= (n.1189+2T=)
n.2728+2T=
22g.19972735A>CCA410694160ARVCFc.2641+2T>G (n.2641+2T>G)
c.2452+2T>G (n.2452+2T>G)
c.2623+2T>G (n.2623+2T>G)
c.2434+2T>G (n.2434+2T>G)
n.1563+2T>G
c.2395+2T>G (n.2395+2T>G)
c.2608+2T>G (n.2608+2T>G)
c.1207+2T>G (n.1207+2T>G)
c.1189+2T>G (n.1189+2T>G)
n.2728+2T>G
22g.19972735A>GCA10104997ARVCFc.2641+2T>C (n.2641+2T>C)
c.2452+2T>C (n.2452+2T>C)
c.2623+2T>C (n.2623+2T>C)
c.2434+2T>C (n.2434+2T>C)
n.1563+2T>C
c.2395+2T>C (n.2395+2T>C)
c.2608+2T>C (n.2608+2T>C)
c.1207+2T>C (n.1207+2T>C)
c.1189+2T>C (n.1189+2T>C)
n.2728+2T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972735A>TCA410694162ARVCFc.2641+2T>A (n.2641+2T>A)
c.2452+2T>A (n.2452+2T>A)
c.2623+2T>A (n.2623+2T>A)
c.2434+2T>A (n.2434+2T>A)
n.1563+2T>A
c.2395+2T>A (n.2395+2T>A)
c.2608+2T>A (n.2608+2T>A)
c.1207+2T>A (n.1207+2T>A)
c.1189+2T>A (n.1189+2T>A)
n.2728+2T>A
22g.19972736C>ACA410694164ARVCFc.2641+1G>T (n.2641+1G>T)
c.2452+1G>T (n.2452+1G>T)
c.2623+1G>T (n.2623+1G>T)
c.2434+1G>T (n.2434+1G>T)
n.1563+1G>T
c.2395+1G>T (n.2395+1G>T)
c.2608+1G>T (n.2608+1G>T)
c.1207+1G>T (n.1207+1G>T)
c.1189+1G>T (n.1189+1G>T)
n.2728+1G>T
 gnomAD v4
22g.19972736C=CA2396130768ARVCFc.2641+1G= (n.2641+1G=)
c.2452+1G= (n.2452+1G=)
c.2623+1G= (n.2623+1G=)
c.2434+1G= (n.2434+1G=)
n.1563+1G=
c.2395+1G= (n.2395+1G=)
c.2608+1G= (n.2608+1G=)
c.1207+1G= (n.1207+1G=)
c.1189+1G= (n.1189+1G=)
n.2728+1G=
22g.19972736C>GCA410694166ARVCFc.2641+1G>C (n.2641+1G>C)
c.2452+1G>C (n.2452+1G>C)
c.2623+1G>C (n.2623+1G>C)
c.2434+1G>C (n.2434+1G>C)
n.1563+1G>C
c.2395+1G>C (n.2395+1G>C)
c.2608+1G>C (n.2608+1G>C)
c.1207+1G>C (n.1207+1G>C)
c.1189+1G>C (n.1189+1G>C)
n.2728+1G>C
22g.19972736C>TCA322126147ARVCFc.2641+1G>A (n.2641+1G>A)
c.2452+1G>A (n.2452+1G>A)
c.2623+1G>A (n.2623+1G>A)
c.2434+1G>A (n.2434+1G>A)
n.1563+1G>A
c.2395+1G>A (n.2395+1G>A)
c.2608+1G>A (n.2608+1G>A)
c.1207+1G>A (n.1207+1G>A)
c.1189+1G>A (n.1189+1G>A)
n.2728+1G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972737C>ACA410694169ARVCFc.2641G>T (p.Glu881Ter)
c.2452G>T (p.Glu818Ter)
c.2623G>T (p.Glu875Ter)
c.2434G>T (p.Glu812Ter)
n.1563G>T
c.2395G>T (p.Glu799Ter)
c.2608G>T (p.Glu870Ter)
c.1207G>T (p.Glu403Ter)
c.1189G>T (p.Glu397Ter)
n.2728G>T
 gnomAD v4
22g.19972737C>GCA410694172ARVCFc.2641G>C (p.Glu881Gln)
c.2452G>C (p.Glu818Gln)
c.2623G>C (p.Glu875Gln)
c.2434G>C (p.Glu812Gln)
n.1563G>C
c.2395G>C (p.Glu799Gln)
c.2608G>C (p.Glu870Gln)
c.1207G>C (p.Glu403Gln)
c.1189G>C (p.Glu397Gln)
n.2728G>C
 gnomAD v4
22g.19972737C>TCA410694171ARVCFc.2641G>A (p.Glu881Lys)
c.2452G>A (p.Glu818Lys)
c.2623G>A (p.Glu875Lys)
c.2434G>A (p.Glu812Lys)
n.1563G>A
c.2395G>A (p.Glu799Lys)
c.2608G>A (p.Glu870Lys)
c.1207G>A (p.Glu403Lys)
c.1189G>A (p.Glu397Lys)
n.2728G>A
22g.19972738A=CA2396130769ARVCFc.2640T= (p.Leu880=)
c.2451T= (p.Leu817=)
c.2622T= (p.Leu874=)
c.2433T= (p.Leu811=)
n.1562T=
c.2394T= (p.Leu798=)
c.2607T= (p.Leu869=)
c.1206T= (p.Leu402=)
c.1188T= (p.Leu396=)
n.2727T=
22g.19972738A>CCA513688542ARVCFc.2640T>G (p.Leu880=)
c.2451T>G (p.Leu817=)
c.2622T>G (p.Leu874=)
c.2433T>G (p.Leu811=)
n.1562T>G
c.2394T>G (p.Leu798=)
c.2607T>G (p.Leu869=)
c.1206T>G (p.Leu402=)
c.1188T>G (p.Leu396=)
n.2727T>G
 dbSNP gnomAD v3 gnomAD v4
22g.19972738A>GCA513688543ARVCFc.2640T>C (p.Leu880=)
c.2451T>C (p.Leu817=)
c.2622T>C (p.Leu874=)
c.2433T>C (p.Leu811=)
n.1562T>C
c.2394T>C (p.Leu798=)
c.2607T>C (p.Leu869=)
c.1206T>C (p.Leu402=)
c.1188T>C (p.Leu396=)
n.2727T>C
22g.19972738A>TCA513688544ARVCFc.2640T>A (p.Leu880=)
c.2451T>A (p.Leu817=)
c.2622T>A (p.Leu874=)
c.2433T>A (p.Leu811=)
n.1562T>A
c.2394T>A (p.Leu798=)
c.2607T>A (p.Leu869=)
c.1206T>A (p.Leu402=)
c.1188T>A (p.Leu396=)
n.2727T>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972739A=CA2396130770ARVCFc.2639T= (p.Leu880=)
c.2450T= (p.Leu817=)
c.2621T= (p.Leu874=)
c.2432T= (p.Leu811=)
n.1561T=
c.2393T= (p.Leu798=)
c.2606T= (p.Leu869=)
c.1205T= (p.Leu402=)
c.1187T= (p.Leu396=)
n.2726T=
22g.19972739A>CCA410694174ARVCFc.2639T>G (p.Leu880Arg)
c.2450T>G (p.Leu817Arg)
c.2621T>G (p.Leu874Arg)
c.2432T>G (p.Leu811Arg)
n.1561T>G
c.2393T>G (p.Leu798Arg)
c.2606T>G (p.Leu869Arg)
c.1205T>G (p.Leu402Arg)
c.1187T>G (p.Leu396Arg)
n.2726T>G
22g.19972739A>GCA410694175ARVCFc.2639T>C (p.Leu880Pro)
c.2450T>C (p.Leu817Pro)
c.2621T>C (p.Leu874Pro)
c.2432T>C (p.Leu811Pro)
n.1561T>C
c.2393T>C (p.Leu798Pro)
c.2606T>C (p.Leu869Pro)
c.1205T>C (p.Leu402Pro)
c.1187T>C (p.Leu396Pro)
n.2726T>C
22g.19972739A>TCA410694176ARVCFc.2639T>A (p.Leu880His)
c.2450T>A (p.Leu817His)
c.2621T>A (p.Leu874His)
c.2432T>A (p.Leu811His)
n.1561T>A
c.2393T>A (p.Leu798His)
c.2606T>A (p.Leu869His)
c.1205T>A (p.Leu402His)
c.1187T>A (p.Leu396His)
n.2726T>A
22g.19972740G>ACA10104999ARVCFc.2638C>T (p.Leu880Phe)
c.2449C>T (p.Leu817Phe)
c.2620C>T (p.Leu874Phe)
c.2431C>T (p.Leu811Phe)
n.1560C>T
c.2392C>T (p.Leu798Phe)
c.2605C>T (p.Leu869Phe)
c.1204C>T (p.Leu402Phe)
c.1186C>T (p.Leu396Phe)
n.2725C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972740G>CCA410694180ARVCFc.2638C>G (p.Leu880Val)
c.2449C>G (p.Leu817Val)
c.2620C>G (p.Leu874Val)
c.2431C>G (p.Leu811Val)
n.1560C>G
c.2392C>G (p.Leu798Val)
c.2605C>G (p.Leu869Val)
c.1204C>G (p.Leu402Val)
c.1186C>G (p.Leu396Val)
n.2725C>G
22g.19972740G=CA2396130771ARVCFc.2638C= (p.Leu880=)
c.2449C= (p.Leu817=)
c.2620C= (p.Leu874=)
c.2431C= (p.Leu811=)
n.1560C=
c.2392C= (p.Leu798=)
c.2605C= (p.Leu869=)
c.1204C= (p.Leu402=)
c.1186C= (p.Leu396=)
n.2725C=
22g.19972740G>TCA410694182ARVCFc.2638C>A (p.Leu880Ile)
c.2449C>A (p.Leu817Ile)
c.2620C>A (p.Leu874Ile)
c.2431C>A (p.Leu811Ile)
n.1560C>A
c.2392C>A (p.Leu798Ile)
c.2605C>A (p.Leu869Ile)
c.1204C>A (p.Leu402Ile)
c.1186C>A (p.Leu396Ile)
n.2725C>A
22g.19972741dupCA10104998ARVCFc.2638dup (p.Leu880ProfsTer2)
c.2449dup (p.Leu817ProfsTer2)
c.2620dup (p.Leu874ProfsTer2)
c.2431dup (p.Leu811ProfsTer2)
n.1560dup
c.2392dup (p.Leu798ProfsTer2)
c.2605dup (p.Leu869ProfsTer2)
c.1204dup (p.Leu402ProfsTer2)
c.1186dup (p.Leu396ProfsTer2)
n.2725dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972741G>ACA513688545ARVCFc.2637C>T (p.Ser879=)
c.2448C>T (p.Ser816=)
c.2619C>T (p.Ser873=)
c.2430C>T (p.Ser810=)
n.1559C>T
c.2391C>T (p.Ser797=)
c.2604C>T (p.Ser868=)
c.1203C>T (p.Ser401=)
c.1185C>T (p.Ser395=)
n.2724C>T
 dbSNP gnomAD v4
22g.19972741G>CCA410694183ARVCFc.2637C>G (p.Ser879Arg)
c.2448C>G (p.Ser816Arg)
c.2619C>G (p.Ser873Arg)
c.2430C>G (p.Ser810Arg)
n.1559C>G
c.2391C>G (p.Ser797Arg)
c.2604C>G (p.Ser868Arg)
c.1203C>G (p.Ser401Arg)
c.1185C>G (p.Ser395Arg)
n.2724C>G
 dbSNP gnomAD v2 gnomAD v4
22g.19972741G=CA2396130772ARVCFc.2637C= (p.Ser879=)
c.2448C= (p.Ser816=)
c.2619C= (p.Ser873=)
c.2430C= (p.Ser810=)
n.1559C=
c.2391C= (p.Ser797=)
c.2604C= (p.Ser868=)
c.1203C= (p.Ser401=)
c.1185C= (p.Ser395=)
n.2724C=
22g.19972741G>TCA410694185ARVCFc.2637C>A (p.Ser879Arg)
c.2448C>A (p.Ser816Arg)
c.2619C>A (p.Ser873Arg)
c.2430C>A (p.Ser810Arg)
n.1559C>A
c.2391C>A (p.Ser797Arg)
c.2604C>A (p.Ser868Arg)
c.1203C>A (p.Ser401Arg)
c.1185C>A (p.Ser395Arg)
n.2724C>A
22g.19972742C>ACA410694187ARVCFc.2636G>T (p.Ser879Ile)
c.2447G>T (p.Ser816Ile)
c.2618G>T (p.Ser873Ile)
c.2429G>T (p.Ser810Ile)
n.1558G>T
c.2390G>T (p.Ser797Ile)
c.2603G>T (p.Ser868Ile)
c.1202G>T (p.Ser401Ile)
c.1184G>T (p.Ser395Ile)
n.2723G>T
 dbSNP gnomAD v2 gnomAD v4
22g.19972742C=CA2396130773ARVCFc.2636G= (p.Ser879=)
c.2447G= (p.Ser816=)
c.2618G= (p.Ser873=)
c.2429G= (p.Ser810=)
n.1558G=
c.2390G= (p.Ser797=)
c.2603G= (p.Ser868=)
c.1202G= (p.Ser401=)
c.1184G= (p.Ser395=)
n.2723G=
22g.19972742C>GCA410694189ARVCFc.2636G>C (p.Ser879Thr)
c.2447G>C (p.Ser816Thr)
c.2618G>C (p.Ser873Thr)
c.2429G>C (p.Ser810Thr)
n.1558G>C
c.2390G>C (p.Ser797Thr)
c.2603G>C (p.Ser868Thr)
c.1202G>C (p.Ser401Thr)
c.1184G>C (p.Ser395Thr)
n.2723G>C
 gnomAD v4
22g.19972742C>TCA10105000ARVCFc.2636G>A (p.Ser879Asn)
c.2447G>A (p.Ser816Asn)
c.2618G>A (p.Ser873Asn)
c.2429G>A (p.Ser810Asn)
n.1558G>A
c.2390G>A (p.Ser797Asn)
c.2603G>A (p.Ser868Asn)
c.1202G>A (p.Ser401Asn)
c.1184G>A (p.Ser395Asn)
n.2723G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972743T>ACA410694194ARVCFc.2635A>T (p.Ser879Cys)
c.2446A>T (p.Ser816Cys)
c.2617A>T (p.Ser873Cys)
c.2428A>T (p.Ser810Cys)
n.1557A>T
c.2389A>T (p.Ser797Cys)
c.2602A>T (p.Ser868Cys)
c.1201A>T (p.Ser401Cys)
c.1183A>T (p.Ser395Cys)
n.2722A>T
22g.19972743T>CCA410694191ARVCFc.2635A>G (p.Ser879Gly)
c.2446A>G (p.Ser816Gly)
c.2617A>G (p.Ser873Gly)
c.2428A>G (p.Ser810Gly)
n.1557A>G
c.2389A>G (p.Ser797Gly)
c.2602A>G (p.Ser868Gly)
c.1201A>G (p.Ser401Gly)
c.1183A>G (p.Ser395Gly)
n.2722A>G
22g.19972743T>GCA410694193ARVCFc.2635A>C (p.Ser879Arg)
c.2446A>C (p.Ser816Arg)
c.2617A>C (p.Ser873Arg)
c.2428A>C (p.Ser810Arg)
n.1557A>C
c.2389A>C (p.Ser797Arg)
c.2602A>C (p.Ser868Arg)
c.1201A>C (p.Ser401Arg)
c.1183A>C (p.Ser395Arg)
n.2722A>C
 gnomAD v4
22g.19972744C>ACA410694196ARVCFc.2634G>T (p.Lys878Asn)
c.2445G>T (p.Lys815Asn)
c.2616G>T (p.Lys872Asn)
c.2427G>T (p.Lys809Asn)
n.1556G>T
c.2388G>T (p.Lys796Asn)
c.2601G>T (p.Lys867Asn)
c.1200G>T (p.Lys400Asn)
c.1182G>T (p.Lys394Asn)
n.2721G>T
22g.19972744C=CA2396130774ARVCFc.2634G= (p.Lys878=)
c.2445G= (p.Lys815=)
c.2616G= (p.Lys872=)
c.2427G= (p.Lys809=)
n.1556G=
c.2388G= (p.Lys796=)
c.2601G= (p.Lys867=)
c.1200G= (p.Lys400=)
c.1182G= (p.Lys394=)
n.2721G=
22g.19972744C>GCA410694198ARVCFc.2634G>C (p.Lys878Asn)
c.2445G>C (p.Lys815Asn)
c.2616G>C (p.Lys872Asn)
c.2427G>C (p.Lys809Asn)
n.1556G>C
c.2388G>C (p.Lys796Asn)
c.2601G>C (p.Lys867Asn)
c.1200G>C (p.Lys400Asn)
c.1182G>C (p.Lys394Asn)
n.2721G>C
 dbSNP gnomAD v4
22g.19972744C>TCA10105001ARVCFc.2634G>A (p.Lys878=)
c.2445G>A (p.Lys815=)
c.2616G>A (p.Lys872=)
c.2427G>A (p.Lys809=)
n.1556G>A
c.2388G>A (p.Lys796=)
c.2601G>A (p.Lys867=)
c.1200G>A (p.Lys400=)
c.1182G>A (p.Lys394=)
n.2721G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972745T>ACA410694200ARVCFc.2633A>T (p.Lys878Met)
c.2444A>T (p.Lys815Met)
c.2615A>T (p.Lys872Met)
c.2426A>T (p.Lys809Met)
n.1555A>T
c.2387A>T (p.Lys796Met)
c.2600A>T (p.Lys867Met)
c.1199A>T (p.Lys400Met)
c.1181A>T (p.Lys394Met)
n.2720A>T
22g.19972745T>CCA410694202ARVCFc.2633A>G (p.Lys878Arg)
c.2444A>G (p.Lys815Arg)
c.2615A>G (p.Lys872Arg)
c.2426A>G (p.Lys809Arg)
n.1555A>G
c.2387A>G (p.Lys796Arg)
c.2600A>G (p.Lys867Arg)
c.1199A>G (p.Lys400Arg)
c.1181A>G (p.Lys394Arg)
n.2720A>G
22g.19972745T>GCA410694203ARVCFc.2633A>C (p.Lys878Thr)
c.2444A>C (p.Lys815Thr)
c.2615A>C (p.Lys872Thr)
c.2426A>C (p.Lys809Thr)
n.1555A>C
c.2387A>C (p.Lys796Thr)
c.2600A>C (p.Lys867Thr)
c.1199A>C (p.Lys400Thr)
c.1181A>C (p.Lys394Thr)
n.2720A>C
22g.19972746T>ACA410694204ARVCFc.2632A>T (p.Lys878Ter)
c.2443A>T (p.Lys815Ter)
c.2614A>T (p.Lys872Ter)
c.2425A>T (p.Lys809Ter)
n.1554A>T
c.2386A>T (p.Lys796Ter)
c.2599A>T (p.Lys867Ter)
c.1198A>T (p.Lys400Ter)
c.1180A>T (p.Lys394Ter)
n.2719A>T
22g.19972746T>CCA410694206ARVCFc.2632A>G (p.Lys878Glu)
c.2443A>G (p.Lys815Glu)
c.2614A>G (p.Lys872Glu)
c.2425A>G (p.Lys809Glu)
n.1554A>G
c.2386A>G (p.Lys796Glu)
c.2599A>G (p.Lys867Glu)
c.1198A>G (p.Lys400Glu)
c.1180A>G (p.Lys394Glu)
n.2719A>G
22g.19972746T>GCA410694208ARVCFc.2632A>C (p.Lys878Gln)
c.2443A>C (p.Lys815Gln)
c.2614A>C (p.Lys872Gln)
c.2425A>C (p.Lys809Gln)
n.1554A>C
c.2386A>C (p.Lys796Gln)
c.2599A>C (p.Lys867Gln)
c.1198A>C (p.Lys400Gln)
c.1180A>C (p.Lys394Gln)
n.2719A>C
22g.19972747_19972748delCA2655342403ARVCFc.2631_2632del (p.Asp877GlufsTer4)
c.2442_2443del (p.Asp814GlufsTer4)
c.2613_2614del (p.Asp871GlufsTer4)
c.2424_2425del (p.Asp808GlufsTer4)
n.1553_1554del
c.2385_2386del (p.Asp795GlufsTer4)
c.2598_2599del (p.Asp866GlufsTer4)
c.1197_1198del (p.Asp399GlufsTer4)
c.1179_1180del (p.Asp393GlufsTer4)
n.2718_2719del
 gnomAD v4
22g.19972747G>ACA513688546ARVCFc.2631C>T (p.Asp877=)
c.2442C>T (p.Asp814=)
c.2613C>T (p.Asp871=)
c.2424C>T (p.Asp808=)
n.1553C>T
c.2385C>T (p.Asp795=)
c.2598C>T (p.Asp866=)
c.1197C>T (p.Asp399=)
c.1179C>T (p.Asp393=)
n.2718C>T
22g.19972747G>CCA410694209ARVCFc.2631C>G (p.Asp877Glu)
c.2442C>G (p.Asp814Glu)
c.2613C>G (p.Asp871Glu)
c.2424C>G (p.Asp808Glu)
n.1553C>G
c.2385C>G (p.Asp795Glu)
c.2598C>G (p.Asp866Glu)
c.1197C>G (p.Asp399Glu)
c.1179C>G (p.Asp393Glu)
n.2718C>G
22g.19972747G>TCA410694211ARVCFc.2631C>A (p.Asp877Glu)
c.2442C>A (p.Asp814Glu)
c.2613C>A (p.Asp871Glu)
c.2424C>A (p.Asp808Glu)
n.1553C>A
c.2385C>A (p.Asp795Glu)
c.2598C>A (p.Asp866Glu)
c.1197C>A (p.Asp399Glu)
c.1179C>A (p.Asp393Glu)
n.2718C>A
22g.19972748T>ACA410694216ARVCFc.2630A>T (p.Asp877Val)
c.2441A>T (p.Asp814Val)
c.2612A>T (p.Asp871Val)
c.2423A>T (p.Asp808Val)
n.1552A>T
c.2384A>T (p.Asp795Val)
c.2597A>T (p.Asp866Val)
c.1196A>T (p.Asp399Val)
c.1178A>T (p.Asp393Val)
n.2717A>T
22g.19972748T>CCA410694215ARVCFc.2630A>G (p.Asp877Gly)
c.2441A>G (p.Asp814Gly)
c.2612A>G (p.Asp871Gly)
c.2423A>G (p.Asp808Gly)
n.1552A>G
c.2384A>G (p.Asp795Gly)
c.2597A>G (p.Asp866Gly)
c.1196A>G (p.Asp399Gly)
c.1178A>G (p.Asp393Gly)
n.2717A>G
22g.19972748T>GCA410694213ARVCFc.2630A>C (p.Asp877Ala)
c.2441A>C (p.Asp814Ala)
c.2612A>C (p.Asp871Ala)
c.2423A>C (p.Asp808Ala)
n.1552A>C
c.2384A>C (p.Asp795Ala)
c.2597A>C (p.Asp866Ala)
c.1196A>C (p.Asp399Ala)
c.1178A>C (p.Asp393Ala)
n.2717A>C
22g.19972749C>ACA410694218ARVCFc.2629G>T (p.Asp877Tyr)
c.2440G>T (p.Asp814Tyr)
c.2611G>T (p.Asp871Tyr)
c.2422G>T (p.Asp808Tyr)
n.1551G>T
c.2383G>T (p.Asp795Tyr)
c.2596G>T (p.Asp866Tyr)
c.1195G>T (p.Asp399Tyr)
c.1177G>T (p.Asp393Tyr)
n.2716G>T
 gnomAD v4
22g.19972749C>GCA410694222ARVCFc.2629G>C (p.Asp877His)
c.2440G>C (p.Asp814His)
c.2611G>C (p.Asp871His)
c.2422G>C (p.Asp808His)
n.1551G>C
c.2383G>C (p.Asp795His)
c.2596G>C (p.Asp866His)
c.1195G>C (p.Asp399His)
c.1177G>C (p.Asp393His)
n.2716G>C
22g.19972749C>TCA410694220ARVCFc.2629G>A (p.Asp877Asn)
c.2440G>A (p.Asp814Asn)
c.2611G>A (p.Asp871Asn)
c.2422G>A (p.Asp808Asn)
n.1551G>A
c.2383G>A (p.Asp795Asn)
c.2596G>A (p.Asp866Asn)
c.1195G>A (p.Asp399Asn)
c.1177G>A (p.Asp393Asn)
n.2716G>A
22g.19972750C>ACA10105002ARVCFc.2628G>T (p.Val876=)
c.2439G>T (p.Val813=)
c.2610G>T (p.Val870=)
c.2421G>T (p.Val807=)
n.1550G>T
c.2382G>T (p.Val794=)
c.2595G>T (p.Val865=)
c.1194G>T (p.Val398=)
c.1176G>T (p.Val392=)
n.2715G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972750C=CA2396130775ARVCFc.2628G= (p.Val876=)
c.2439G= (p.Val813=)
c.2610G= (p.Val870=)
c.2421G= (p.Val807=)
n.1550G=
c.2382G= (p.Val794=)
c.2595G= (p.Val865=)
c.1194G= (p.Val398=)
c.1176G= (p.Val392=)
n.2715G=
22g.19972750C>GCA513688547ARVCFc.2628G>C (p.Val876=)
c.2439G>C (p.Val813=)
c.2610G>C (p.Val870=)
c.2421G>C (p.Val807=)
n.1550G>C
c.2382G>C (p.Val794=)
c.2595G>C (p.Val865=)
c.1194G>C (p.Val398=)
c.1176G>C (p.Val392=)
n.2715G>C
22g.19972750C>TCA322126157ARVCFc.2628G>A (p.Val876=)
c.2439G>A (p.Val813=)
c.2610G>A (p.Val870=)
c.2421G>A (p.Val807=)
n.1550G>A
c.2382G>A (p.Val794=)
c.2595G>A (p.Val865=)
c.1194G>A (p.Val398=)
c.1176G>A (p.Val392=)
n.2715G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972751A>CCA410694224ARVCFc.2627T>G (p.Val876Gly)
c.2438T>G (p.Val813Gly)
c.2609T>G (p.Val870Gly)
c.2420T>G (p.Val807Gly)
n.1549T>G
c.2381T>G (p.Val794Gly)
c.2594T>G (p.Val865Gly)
c.1193T>G (p.Val398Gly)
c.1175T>G (p.Val392Gly)
n.2714T>G
22g.19972751A>GCA410694226ARVCFc.2627T>C (p.Val876Ala)
c.2438T>C (p.Val813Ala)
c.2609T>C (p.Val870Ala)
c.2420T>C (p.Val807Ala)
n.1549T>C
c.2381T>C (p.Val794Ala)
c.2594T>C (p.Val865Ala)
c.1193T>C (p.Val398Ala)
c.1175T>C (p.Val392Ala)
n.2714T>C
22g.19972751A>TCA410694227ARVCFc.2627T>A (p.Val876Glu)
c.2438T>A (p.Val813Glu)
c.2609T>A (p.Val870Glu)
c.2420T>A (p.Val807Glu)
n.1549T>A
c.2381T>A (p.Val794Glu)
c.2594T>A (p.Val865Glu)
c.1193T>A (p.Val398Glu)
c.1175T>A (p.Val392Glu)
n.2714T>A
22g.19972752C>ACA10105003ARVCFc.2626G>T (p.Val876Leu)
c.2437G>T (p.Val813Leu)
c.2608G>T (p.Val870Leu)
c.2419G>T (p.Val807Leu)
n.1548G>T
c.2380G>T (p.Val794Leu)
c.2593G>T (p.Val865Leu)
c.1192G>T (p.Val398Leu)
c.1174G>T (p.Val392Leu)
n.2713G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972752C=CA2396130776ARVCFc.2626G= (p.Val876=)
c.2437G= (p.Val813=)
c.2608G= (p.Val870=)
c.2419G= (p.Val807=)
n.1548G=
c.2380G= (p.Val794=)
c.2593G= (p.Val865=)
c.1192G= (p.Val398=)
c.1174G= (p.Val392=)
n.2713G=
22g.19972752C>GCA410694229ARVCFc.2626G>C (p.Val876Leu)
c.2437G>C (p.Val813Leu)
c.2608G>C (p.Val870Leu)
c.2419G>C (p.Val807Leu)
n.1548G>C
c.2380G>C (p.Val794Leu)
c.2593G>C (p.Val865Leu)
c.1192G>C (p.Val398Leu)
c.1174G>C (p.Val392Leu)
n.2713G>C
22g.19972752C>TCA410694231ARVCFc.2626G>A (p.Val876Met)
c.2437G>A (p.Val813Met)
c.2608G>A (p.Val870Met)
c.2419G>A (p.Val807Met)
n.1548G>A
c.2380G>A (p.Val794Met)
c.2593G>A (p.Val865Met)
c.1192G>A (p.Val398Met)
c.1174G>A (p.Val392Met)
n.2713G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972753C>ACA10105005ARVCFc.2625G>T (p.Leu875=)
c.2436G>T (p.Leu812=)
c.2607G>T (p.Leu869=)
c.2418G>T (p.Leu806=)
n.1547G>T
c.2379G>T (p.Leu793=)
c.2592G>T (p.Leu864=)
c.1191G>T (p.Leu397=)
c.1173G>T (p.Leu391=)
n.2712G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972753C=CA2396130777ARVCFc.2625G= (p.Leu875=)
c.2436G= (p.Leu812=)
c.2607G= (p.Leu869=)
c.2418G= (p.Leu806=)
n.1547G=
c.2379G= (p.Leu793=)
c.2592G= (p.Leu864=)
c.1191G= (p.Leu397=)
c.1173G= (p.Leu391=)
n.2712G=
22g.19972753C>GCA10105004ARVCFc.2625G>C (p.Leu875=)
c.2436G>C (p.Leu812=)
c.2607G>C (p.Leu869=)
c.2418G>C (p.Leu806=)
n.1547G>C
c.2379G>C (p.Leu793=)
c.2592G>C (p.Leu864=)
c.1191G>C (p.Leu397=)
c.1173G>C (p.Leu391=)
n.2712G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972753C>TCA513688548ARVCFc.2625G>A (p.Leu875=)
c.2436G>A (p.Leu812=)
c.2607G>A (p.Leu869=)
c.2418G>A (p.Leu806=)
n.1547G>A
c.2379G>A (p.Leu793=)
c.2592G>A (p.Leu864=)
c.1191G>A (p.Leu397=)
c.1173G>A (p.Leu391=)
n.2712G>A
22g.19972754A>CCA410694234ARVCFc.2624T>G (p.Leu875Arg)
c.2435T>G (p.Leu812Arg)
c.2606T>G (p.Leu869Arg)
c.2417T>G (p.Leu806Arg)
n.1546T>G
c.2378T>G (p.Leu793Arg)
c.2591T>G (p.Leu864Arg)
c.1190T>G (p.Leu397Arg)
c.1172T>G (p.Leu391Arg)
n.2711T>G
 gnomAD v4
22g.19972754A>GCA410694235ARVCFc.2624T>C (p.Leu875Pro)
c.2435T>C (p.Leu812Pro)
c.2606T>C (p.Leu869Pro)
c.2417T>C (p.Leu806Pro)
n.1546T>C
c.2378T>C (p.Leu793Pro)
c.2591T>C (p.Leu864Pro)
c.1190T>C (p.Leu397Pro)
c.1172T>C (p.Leu391Pro)
n.2711T>C
22g.19972754A>TCA410694236ARVCFc.2624T>A (p.Leu875Gln)
c.2435T>A (p.Leu812Gln)
c.2606T>A (p.Leu869Gln)
c.2417T>A (p.Leu806Gln)
n.1546T>A
c.2378T>A (p.Leu793Gln)
c.2591T>A (p.Leu864Gln)
c.1190T>A (p.Leu397Gln)
c.1172T>A (p.Leu391Gln)
n.2711T>A
22g.19972755G>ACA513688549ARVCFc.2623C>T (p.Leu875=)
c.2434C>T (p.Leu812=)
c.2605C>T (p.Leu869=)
c.2416C>T (p.Leu806=)
n.1545C>T
c.2377C>T (p.Leu793=)
c.2590C>T (p.Leu864=)
c.1189C>T (p.Leu397=)
c.1171C>T (p.Leu391=)
n.2710C>T
 dbSNP gnomAD v3 gnomAD v4
22g.19972755G>CCA410694239ARVCFc.2623C>G (p.Leu875Val)
c.2434C>G (p.Leu812Val)
c.2605C>G (p.Leu869Val)
c.2416C>G (p.Leu806Val)
n.1545C>G
c.2377C>G (p.Leu793Val)
c.2590C>G (p.Leu864Val)
c.1189C>G (p.Leu397Val)
c.1171C>G (p.Leu391Val)
n.2710C>G
 gnomAD v4
22g.19972755G=CA2396130778ARVCFc.2623C= (p.Leu875=)
c.2434C= (p.Leu812=)
c.2605C= (p.Leu869=)
c.2416C= (p.Leu806=)
n.1545C=
c.2377C= (p.Leu793=)
c.2590C= (p.Leu864=)
c.1189C= (p.Leu397=)
c.1171C= (p.Leu391=)
n.2710C=
22g.19972755G>TCA410694237ARVCFc.2623C>A (p.Leu875Met)
c.2434C>A (p.Leu812Met)
c.2605C>A (p.Leu869Met)
c.2416C>A (p.Leu806Met)
n.1545C>A
c.2377C>A (p.Leu793Met)
c.2590C>A (p.Leu864Met)
c.1189C>A (p.Leu397Met)
c.1171C>A (p.Leu391Met)
n.2710C>A
22g.19972756T>ACA513688550ARVCFc.2622A>T (p.Pro874=)
c.2433A>T (p.Pro811=)
c.2604A>T (p.Pro868=)
c.2415A>T (p.Pro805=)
n.1544A>T
c.2376A>T (p.Pro792=)
c.2589A>T (p.Pro863=)
c.1188A>T (p.Pro396=)
c.1170A>T (p.Pro390=)
n.2709A>T
22g.19972756T>CCA513688551ARVCFc.2622A>G (p.Pro874=)
c.2433A>G (p.Pro811=)
c.2604A>G (p.Pro868=)
c.2415A>G (p.Pro805=)
n.1544A>G
c.2376A>G (p.Pro792=)
c.2589A>G (p.Pro863=)
c.1188A>G (p.Pro396=)
c.1170A>G (p.Pro390=)
n.2709A>G
22g.19972756T>GCA513688552ARVCFc.2622A>C (p.Pro874=)
c.2433A>C (p.Pro811=)
c.2604A>C (p.Pro868=)
c.2415A>C (p.Pro805=)
n.1544A>C
c.2376A>C (p.Pro792=)
c.2589A>C (p.Pro863=)
c.1188A>C (p.Pro396=)
c.1170A>C (p.Pro390=)
n.2709A>C
 dbSNP
22g.19972756T=CA2396130779ARVCFc.2622A= (p.Pro874=)
c.2433A= (p.Pro811=)
c.2604A= (p.Pro868=)
c.2415A= (p.Pro805=)
n.1544A=
c.2376A= (p.Pro792=)
c.2589A= (p.Pro863=)
c.1188A= (p.Pro396=)
c.1170A= (p.Pro390=)
n.2709A=
22g.19972757G>ACA322126161ARVCFc.2621C>T (p.Pro874Leu)
c.2432C>T (p.Pro811Leu)
c.2603C>T (p.Pro868Leu)
c.2414C>T (p.Pro805Leu)
n.1543C>T
c.2375C>T (p.Pro792Leu)
c.2588C>T (p.Pro863Leu)
c.1187C>T (p.Pro396Leu)
c.1169C>T (p.Pro390Leu)
n.2708C>T
 dbSNP gnomAD v4
22g.19972757G>CCA410694241ARVCFc.2621C>G (p.Pro874Arg)
c.2432C>G (p.Pro811Arg)
c.2603C>G (p.Pro868Arg)
c.2414C>G (p.Pro805Arg)
n.1543C>G
c.2375C>G (p.Pro792Arg)
c.2588C>G (p.Pro863Arg)
c.1187C>G (p.Pro396Arg)
c.1169C>G (p.Pro390Arg)
n.2708C>G
22g.19972757G=CA2396130780ARVCFc.2621C= (p.Pro874=)
c.2432C= (p.Pro811=)
c.2603C= (p.Pro868=)
c.2414C= (p.Pro805=)
n.1543C=
c.2375C= (p.Pro792=)
c.2588C= (p.Pro863=)
c.1187C= (p.Pro396=)
c.1169C= (p.Pro390=)
n.2708C=
22g.19972757G>TCA410694243ARVCFc.2621C>A (p.Pro874Gln)
c.2432C>A (p.Pro811Gln)
c.2603C>A (p.Pro868Gln)
c.2414C>A (p.Pro805Gln)
n.1543C>A
c.2375C>A (p.Pro792Gln)
c.2588C>A (p.Pro863Gln)
c.1187C>A (p.Pro396Gln)
c.1169C>A (p.Pro390Gln)
n.2708C>A
22g.19972758G>ACA410694245ARVCFc.2620C>T (p.Pro874Ser)
c.2431C>T (p.Pro811Ser)
c.2602C>T (p.Pro868Ser)
c.2413C>T (p.Pro805Ser)
n.1542C>T
c.2374C>T (p.Pro792Ser)
c.2587C>T (p.Pro863Ser)
c.1186C>T (p.Pro396Ser)
c.1168C>T (p.Pro390Ser)
n.2707C>T
22g.19972758G>CCA410694246ARVCFc.2620C>G (p.Pro874Ala)
c.2431C>G (p.Pro811Ala)
c.2602C>G (p.Pro868Ala)
c.2413C>G (p.Pro805Ala)
n.1542C>G
c.2374C>G (p.Pro792Ala)
c.2587C>G (p.Pro863Ala)
c.1186C>G (p.Pro396Ala)
c.1168C>G (p.Pro390Ala)
n.2707C>G
22g.19972758G>TCA410694247ARVCFc.2620C>A (p.Pro874Thr)
c.2431C>A (p.Pro811Thr)
c.2602C>A (p.Pro868Thr)
c.2413C>A (p.Pro805Thr)
n.1542C>A
c.2374C>A (p.Pro792Thr)
c.2587C>A (p.Pro863Thr)
c.1186C>A (p.Pro396Thr)
c.1168C>A (p.Pro390Thr)
n.2707C>A
 gnomAD v4
22g.19972759C>ACA513688555ARVCFc.2619G>T (p.Leu873=)
c.2430G>T (p.Leu810=)
c.2601G>T (p.Leu867=)
c.2412G>T (p.Leu804=)
n.1541G>T
c.2373G>T (p.Leu791=)
c.2586G>T (p.Leu862=)
c.1185G>T (p.Leu395=)
c.1167G>T (p.Leu389=)
n.2706G>T
 gnomAD v4
22g.19972759C>GCA513688553ARVCFc.2619G>C (p.Leu873=)
c.2430G>C (p.Leu810=)
c.2601G>C (p.Leu867=)
c.2412G>C (p.Leu804=)
n.1541G>C
c.2373G>C (p.Leu791=)
c.2586G>C (p.Leu862=)
c.1185G>C (p.Leu395=)
c.1167G>C (p.Leu389=)
n.2706G>C
22g.19972759C>TCA513688554ARVCFc.2619G>A (p.Leu873=)
c.2430G>A (p.Leu810=)
c.2601G>A (p.Leu867=)
c.2412G>A (p.Leu804=)
n.1541G>A
c.2373G>A (p.Leu791=)
c.2586G>A (p.Leu862=)
c.1185G>A (p.Leu395=)
c.1167G>A (p.Leu389=)
n.2706G>A
22g.19972760A>CCA410694249ARVCFc.2618T>G (p.Leu873Arg)
c.2429T>G (p.Leu810Arg)
c.2600T>G (p.Leu867Arg)
c.2411T>G (p.Leu804Arg)
n.1540T>G
c.2372T>G (p.Leu791Arg)
c.2585T>G (p.Leu862Arg)
c.1184T>G (p.Leu395Arg)
c.1166T>G (p.Leu389Arg)
n.2705T>G
22g.19972760A>GCA410694251ARVCFc.2618T>C (p.Leu873Pro)
c.2429T>C (p.Leu810Pro)
c.2600T>C (p.Leu867Pro)
c.2411T>C (p.Leu804Pro)
n.1540T>C
c.2372T>C (p.Leu791Pro)
c.2585T>C (p.Leu862Pro)
c.1184T>C (p.Leu395Pro)
c.1166T>C (p.Leu389Pro)
n.2705T>C
22g.19972760A>TCA410694252ARVCFc.2618T>A (p.Leu873Gln)
c.2429T>A (p.Leu810Gln)
c.2600T>A (p.Leu867Gln)
c.2411T>A (p.Leu804Gln)
n.1540T>A
c.2372T>A (p.Leu791Gln)
c.2585T>A (p.Leu862Gln)
c.1184T>A (p.Leu395Gln)
c.1166T>A (p.Leu389Gln)
n.2705T>A
22g.19972761G>ACA513688556ARVCFc.2617C>T (p.Leu873=)
c.2428C>T (p.Leu810=)
c.2599C>T (p.Leu867=)
c.2410C>T (p.Leu804=)
n.1539C>T
c.2371C>T (p.Leu791=)
c.2584C>T (p.Leu862=)
c.1183C>T (p.Leu395=)
c.1165C>T (p.Leu389=)
n.2704C>T
22g.19972761G>CCA410694254ARVCFc.2617C>G (p.Leu873Val)
c.2428C>G (p.Leu810Val)
c.2599C>G (p.Leu867Val)
c.2410C>G (p.Leu804Val)
n.1539C>G
c.2371C>G (p.Leu791Val)
c.2584C>G (p.Leu862Val)
c.1183C>G (p.Leu395Val)
c.1165C>G (p.Leu389Val)
n.2704C>G
 dbSNP gnomAD v4
22g.19972761G>TCA410694255ARVCFc.2617C>A (p.Leu873Met)
c.2428C>A (p.Leu810Met)
c.2599C>A (p.Leu867Met)
c.2410C>A (p.Leu804Met)
n.1539C>A
c.2371C>A (p.Leu791Met)
c.2584C>A (p.Leu862Met)
c.1183C>A (p.Leu395Met)
c.1165C>A (p.Leu389Met)
n.2704C>A
22g.19972762C>ACA513688557ARVCFc.2616G>T (p.Thr872=)
c.2427G>T (p.Thr809=)
c.2598G>T (p.Thr866=)
c.2409G>T (p.Thr803=)
n.1538G>T
c.2370G>T (p.Thr790=)
c.2583G>T (p.Thr861=)
c.1182G>T (p.Thr394=)
c.1164G>T (p.Thr388=)
n.2703G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972762C=CA2396130781ARVCFc.2616G= (p.Thr872=)
c.2427G= (p.Thr809=)
c.2598G= (p.Thr866=)
c.2409G= (p.Thr803=)
n.1538G=
c.2370G= (p.Thr790=)
c.2583G= (p.Thr861=)
c.1182G= (p.Thr394=)
c.1164G= (p.Thr388=)
n.2703G=
22g.19972762C>GCA513688558ARVCFc.2616G>C (p.Thr872=)
c.2427G>C (p.Thr809=)
c.2598G>C (p.Thr866=)
c.2409G>C (p.Thr803=)
n.1538G>C
c.2370G>C (p.Thr790=)
c.2583G>C (p.Thr861=)
c.1182G>C (p.Thr394=)
c.1164G>C (p.Thr388=)
n.2703G>C
22g.19972762C>TCA10105006ARVCFc.2616G>A (p.Thr872=)
c.2427G>A (p.Thr809=)
c.2598G>A (p.Thr866=)
c.2409G>A (p.Thr803=)
n.1538G>A
c.2370G>A (p.Thr790=)
c.2583G>A (p.Thr861=)
c.1182G>A (p.Thr394=)
c.1164G>A (p.Thr388=)
n.2703G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19972763G>ACA10105007ARVCFc.2615C>T (p.Thr872Met)
c.2426C>T (p.Thr809Met)
c.2597C>T (p.Thr866Met)
c.2408C>T (p.Thr803Met)
n.1537C>T
c.2369C>T (p.Thr790Met)
c.2582C>T (p.Thr861Met)
c.1181C>T (p.Thr394Met)
c.1163C>T (p.Thr388Met)
n.2702C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972763G>CCA410694258ARVCFc.2615C>G (p.Thr872Arg)
c.2426C>G (p.Thr809Arg)
c.2597C>G (p.Thr866Arg)
c.2408C>G (p.Thr803Arg)
n.1537C>G
c.2369C>G (p.Thr790Arg)
c.2582C>G (p.Thr861Arg)
c.1181C>G (p.Thr394Arg)
c.1163C>G (p.Thr388Arg)
n.2702C>G
22g.19972763G=CA2396130782ARVCFc.2615C= (p.Thr872=)
c.2426C= (p.Thr809=)
c.2597C= (p.Thr866=)
c.2408C= (p.Thr803=)
n.1537C=
c.2369C= (p.Thr790=)
c.2582C= (p.Thr861=)
c.1181C= (p.Thr394=)
c.1163C= (p.Thr388=)
n.2702C=
22g.19972763G>TCA10105008ARVCFc.2615C>A (p.Thr872Lys)
c.2426C>A (p.Thr809Lys)
c.2597C>A (p.Thr866Lys)
c.2408C>A (p.Thr803Lys)
n.1537C>A
c.2369C>A (p.Thr790Lys)
c.2582C>A (p.Thr861Lys)
c.1181C>A (p.Thr394Lys)
c.1163C>A (p.Thr388Lys)
n.2702C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972764T>ACA410694260ARVCFc.2614A>T (p.Thr872Ser)
c.2425A>T (p.Thr809Ser)
c.2596A>T (p.Thr866Ser)
c.2407A>T (p.Thr803Ser)
n.1536A>T
c.2368A>T (p.Thr790Ser)
c.2581A>T (p.Thr861Ser)
c.1180A>T (p.Thr394Ser)
c.1162A>T (p.Thr388Ser)
n.2701A>T
22g.19972764T>CCA410694261ARVCFc.2614A>G (p.Thr872Ala)
c.2425A>G (p.Thr809Ala)
c.2596A>G (p.Thr866Ala)
c.2407A>G (p.Thr803Ala)
n.1536A>G
c.2368A>G (p.Thr790Ala)
c.2581A>G (p.Thr861Ala)
c.1180A>G (p.Thr394Ala)
c.1162A>G (p.Thr388Ala)
n.2701A>G
22g.19972764T>GCA410694263ARVCFc.2614A>C (p.Thr872Pro)
c.2425A>C (p.Thr809Pro)
c.2596A>C (p.Thr866Pro)
c.2407A>C (p.Thr803Pro)
n.1536A>C
c.2368A>C (p.Thr790Pro)
c.2581A>C (p.Thr861Pro)
c.1180A>C (p.Thr394Pro)
c.1162A>C (p.Thr388Pro)
n.2701A>C
22g.19972765G>ACA513688559ARVCFc.2613C>T (p.Ser871=)
c.2424C>T (p.Ser808=)
c.2595C>T (p.Ser865=)
c.2406C>T (p.Ser802=)
n.1535C>T
c.2367C>T (p.Ser789=)
c.2580C>T (p.Ser860=)
c.1179C>T (p.Ser393=)
c.1161C>T (p.Ser387=)
n.2700C>T
 gnomAD v4
22g.19972765G>CCA410694264ARVCFc.2613C>G (p.Ser871Arg)
c.2424C>G (p.Ser808Arg)
c.2595C>G (p.Ser865Arg)
c.2406C>G (p.Ser802Arg)
n.1535C>G
c.2367C>G (p.Ser789Arg)
c.2580C>G (p.Ser860Arg)
c.1179C>G (p.Ser393Arg)
c.1161C>G (p.Ser387Arg)
n.2700C>G
22g.19972765G>TCA410694266ARVCFc.2613C>A (p.Ser871Arg)
c.2424C>A (p.Ser808Arg)
c.2595C>A (p.Ser865Arg)
c.2406C>A (p.Ser802Arg)
n.1535C>A
c.2367C>A (p.Ser789Arg)
c.2580C>A (p.Ser860Arg)
c.1179C>A (p.Ser393Arg)
c.1161C>A (p.Ser387Arg)
n.2700C>A
 gnomAD v4
22g.19972766C>ACA410694270ARVCFc.2612G>T (p.Ser871Ile)
c.2423G>T (p.Ser808Ile)
c.2594G>T (p.Ser865Ile)
c.2405G>T (p.Ser802Ile)
n.1534G>T
c.2366G>T (p.Ser789Ile)
c.2579G>T (p.Ser860Ile)
c.1178G>T (p.Ser393Ile)
c.1160G>T (p.Ser387Ile)
n.2699G>T
22g.19972766C=CA2396130783ARVCFc.2612G= (p.Ser871=)
c.2423G= (p.Ser808=)
c.2594G= (p.Ser865=)
c.2405G= (p.Ser802=)
n.1534G=
c.2366G= (p.Ser789=)
c.2579G= (p.Ser860=)
c.1178G= (p.Ser393=)
c.1160G= (p.Ser387=)
n.2699G=
22g.19972766C>GCA410694269ARVCFc.2612G>C (p.Ser871Thr)
c.2423G>C (p.Ser808Thr)
c.2594G>C (p.Ser865Thr)
c.2405G>C (p.Ser802Thr)
n.1534G>C
c.2366G>C (p.Ser789Thr)
c.2579G>C (p.Ser860Thr)
c.1178G>C (p.Ser393Thr)
c.1160G>C (p.Ser387Thr)
n.2699G>C
22g.19972766C>TCA10105009ARVCFc.2612G>A (p.Ser871Asn)
c.2423G>A (p.Ser808Asn)
c.2594G>A (p.Ser865Asn)
c.2405G>A (p.Ser802Asn)
n.1534G>A
c.2366G>A (p.Ser789Asn)
c.2579G>A (p.Ser860Asn)
c.1178G>A (p.Ser393Asn)
c.1160G>A (p.Ser387Asn)
n.2699G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972767T>ACA410694272ARVCFc.2611A>T (p.Ser871Cys)
c.2422A>T (p.Ser808Cys)
c.2593A>T (p.Ser865Cys)
c.2404A>T (p.Ser802Cys)
n.1533A>T
c.2365A>T (p.Ser789Cys)
c.2578A>T (p.Ser860Cys)
c.1177A>T (p.Ser393Cys)
c.1159A>T (p.Ser387Cys)
n.2698A>T
22g.19972767T>CCA410694274ARVCFc.2611A>G (p.Ser871Gly)
c.2422A>G (p.Ser808Gly)
c.2593A>G (p.Ser865Gly)
c.2404A>G (p.Ser802Gly)
n.1533A>G
c.2365A>G (p.Ser789Gly)
c.2578A>G (p.Ser860Gly)
c.1177A>G (p.Ser393Gly)
c.1159A>G (p.Ser387Gly)
n.2698A>G
 dbSNP gnomAD v3 gnomAD v4
22g.19972767T>GCA10105010ARVCFc.2611A>C (p.Ser871Arg)
c.2422A>C (p.Ser808Arg)
c.2593A>C (p.Ser865Arg)
c.2404A>C (p.Ser802Arg)
n.1533A>C
c.2365A>C (p.Ser789Arg)
c.2578A>C (p.Ser860Arg)
c.1177A>C (p.Ser393Arg)
c.1159A>C (p.Ser387Arg)
n.2698A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972767T=CA2396130784ARVCFc.2611A= (p.Ser871=)
c.2422A= (p.Ser808=)
c.2593A= (p.Ser865=)
c.2404A= (p.Ser802=)
n.1533A=
c.2365A= (p.Ser789=)
c.2578A= (p.Ser860=)
c.1177A= (p.Ser393=)
c.1159A= (p.Ser387=)
n.2698A=
22g.19972767dupCA2655342406ARVCFc.2611dup (p.Ser871LysfsTer11)
c.2422dup (p.Ser808LysfsTer11)
c.2593dup (p.Ser865LysfsTer11)
c.2404dup (p.Ser802LysfsTer11)
n.1533dup
c.2365dup (p.Ser789LysfsTer11)
c.2578dup (p.Ser860LysfsTer11)
c.1177dup (p.Ser393LysfsTer11)
c.1159dup (p.Ser387LysfsTer11)
n.2698dup
 gnomAD v4
22g.19972768G>ACA10105011ARVCFc.2610C>T (p.Asp870=)
c.2421C>T (p.Asp807=)
c.2592C>T (p.Asp864=)
c.2403C>T (p.Asp801=)
n.1532C>T
c.2364C>T (p.Asp788=)
c.2577C>T (p.Asp859=)
c.1176C>T (p.Asp392=)
c.1158C>T (p.Asp386=)
n.2697C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
22g.19972768G>CCA410694276ARVCFc.2610C>G (p.Asp870Glu)
c.2421C>G (p.Asp807Glu)
c.2592C>G (p.Asp864Glu)
c.2403C>G (p.Asp801Glu)
n.1532C>G
c.2364C>G (p.Asp788Glu)
c.2577C>G (p.Asp859Glu)
c.1176C>G (p.Asp392Glu)
c.1158C>G (p.Asp386Glu)
n.2697C>G
22g.19972768G=CA2396130785ARVCFc.2610C= (p.Asp870=)
c.2421C= (p.Asp807=)
c.2592C= (p.Asp864=)
c.2403C= (p.Asp801=)
n.1532C=
c.2364C= (p.Asp788=)
c.2577C= (p.Asp859=)
c.1176C= (p.Asp392=)
c.1158C= (p.Asp386=)
n.2697C=
22g.19972768G>TCA410694277ARVCFc.2610C>A (p.Asp870Glu)
c.2421C>A (p.Asp807Glu)
c.2592C>A (p.Asp864Glu)
c.2403C>A (p.Asp801Glu)
n.1532C>A
c.2364C>A (p.Asp788Glu)
c.2577C>A (p.Asp859Glu)
c.1176C>A (p.Asp392Glu)
c.1158C>A (p.Asp386Glu)
n.2697C>A
22g.19972769T>ACA410694279ARVCFc.2609A>T (p.Asp870Val)
c.2420A>T (p.Asp807Val)
c.2591A>T (p.Asp864Val)
c.2402A>T (p.Asp801Val)
n.1531A>T
c.2363A>T (p.Asp788Val)
c.2576A>T (p.Asp859Val)
c.1175A>T (p.Asp392Val)
c.1157A>T (p.Asp386Val)
n.2696A>T
22g.19972769T>CCA410694282ARVCFc.2609A>G (p.Asp870Gly)
c.2420A>G (p.Asp807Gly)
c.2591A>G (p.Asp864Gly)
c.2402A>G (p.Asp801Gly)
n.1531A>G
c.2363A>G (p.Asp788Gly)
c.2576A>G (p.Asp859Gly)
c.1175A>G (p.Asp392Gly)
c.1157A>G (p.Asp386Gly)
n.2696A>G
22g.19972769T>GCA410694281ARVCFc.2609A>C (p.Asp870Ala)
c.2420A>C (p.Asp807Ala)
c.2591A>C (p.Asp864Ala)
c.2402A>C (p.Asp801Ala)
n.1531A>C
c.2363A>C (p.Asp788Ala)
c.2576A>C (p.Asp859Ala)
c.1175A>C (p.Asp392Ala)
c.1157A>C (p.Asp386Ala)
n.2696A>C
22g.19972770C>ACA410694284ARVCFc.2608G>T (p.Asp870Tyr)
c.2419G>T (p.Asp807Tyr)
c.2590G>T (p.Asp864Tyr)
c.2401G>T (p.Asp801Tyr)
n.1530G>T
c.2362G>T (p.Asp788Tyr)
c.2575G>T (p.Asp859Tyr)
c.1174G>T (p.Asp392Tyr)
c.1156G>T (p.Asp386Tyr)
n.2695G>T
 gnomAD v4
22g.19972770C>GCA410694286ARVCFc.2608G>C (p.Asp870His)
c.2419G>C (p.Asp807His)
c.2590G>C (p.Asp864His)
c.2401G>C (p.Asp801His)
n.1530G>C
c.2362G>C (p.Asp788His)
c.2575G>C (p.Asp859His)
c.1174G>C (p.Asp392His)
c.1156G>C (p.Asp386His)
n.2695G>C
22g.19972770C>TCA410694288ARVCFc.2608G>A (p.Asp870Asn)
c.2419G>A (p.Asp807Asn)
c.2590G>A (p.Asp864Asn)
c.2401G>A (p.Asp801Asn)
n.1530G>A
c.2362G>A (p.Asp788Asn)
c.2575G>A (p.Asp859Asn)
c.1174G>A (p.Asp392Asn)
c.1156G>A (p.Asp386Asn)
n.2695G>A
22g.19972771A=CA2396130786ARVCFc.2607T= (p.Asp869=)
c.2418T= (p.Asp806=)
c.2589T= (p.Asp863=)
c.2400T= (p.Asp800=)
n.1529T=
c.2361T= (p.Asp787=)
c.2574T= (p.Asp858=)
c.1173T= (p.Asp391=)
c.1155T= (p.Asp385=)
n.2694T=
22g.19972771A>CCA410694289ARVCFc.2607T>G (p.Asp869Glu)
c.2418T>G (p.Asp806Glu)
c.2589T>G (p.Asp863Glu)
c.2400T>G (p.Asp800Glu)
n.1529T>G
c.2361T>G (p.Asp787Glu)
c.2574T>G (p.Asp858Glu)
c.1173T>G (p.Asp391Glu)
c.1155T>G (p.Asp385Glu)
n.2694T>G
 dbSNP
22g.19972771A>GCA513688560ARVCFc.2607T>C (p.Asp869=)
c.2418T>C (p.Asp806=)
c.2589T>C (p.Asp863=)
c.2400T>C (p.Asp800=)
n.1529T>C
c.2361T>C (p.Asp787=)
c.2574T>C (p.Asp858=)
c.1173T>C (p.Asp391=)
c.1155T>C (p.Asp385=)
n.2694T>C
22g.19972771A>TCA410694290ARVCFc.2607T>A (p.Asp869Glu)
c.2418T>A (p.Asp806Glu)
c.2589T>A (p.Asp863Glu)
c.2400T>A (p.Asp800Glu)
n.1529T>A
c.2361T>A (p.Asp787Glu)
c.2574T>A (p.Asp858Glu)
c.1173T>A (p.Asp391Glu)
c.1155T>A (p.Asp385Glu)
n.2694T>A
22g.19972772T>ACA410694292ARVCFc.2606A>T (p.Asp869Val)
c.2417A>T (p.Asp806Val)
c.2588A>T (p.Asp863Val)
c.2399A>T (p.Asp800Val)
n.1528A>T
c.2360A>T (p.Asp787Val)
c.2573A>T (p.Asp858Val)
c.1172A>T (p.Asp391Val)
c.1154A>T (p.Asp385Val)
n.2693A>T
22g.19972772T>CCA410694293ARVCFc.2606A>G (p.Asp869Gly)
c.2417A>G (p.Asp806Gly)
c.2588A>G (p.Asp863Gly)
c.2399A>G (p.Asp800Gly)
n.1528A>G
c.2360A>G (p.Asp787Gly)
c.2573A>G (p.Asp858Gly)
c.1172A>G (p.Asp391Gly)
c.1154A>G (p.Asp385Gly)
n.2693A>G
22g.19972772T>GCA410694294ARVCFc.2606A>C (p.Asp869Ala)
c.2417A>C (p.Asp806Ala)
c.2588A>C (p.Asp863Ala)
c.2399A>C (p.Asp800Ala)
n.1528A>C
c.2360A>C (p.Asp787Ala)
c.2573A>C (p.Asp858Ala)
c.1172A>C (p.Asp391Ala)
c.1154A>C (p.Asp385Ala)
n.2693A>C
22g.19972773C>ACA410694296ARVCFc.2605G>T (p.Asp869Tyr)
c.2416G>T (p.Asp806Tyr)
c.2587G>T (p.Asp863Tyr)
c.2398G>T (p.Asp800Tyr)
n.1527G>T
c.2359G>T (p.Asp787Tyr)
c.2572G>T (p.Asp858Tyr)
c.1171G>T (p.Asp391Tyr)
c.1153G>T (p.Asp385Tyr)
n.2692G>T
 dbSNP
22g.19972773C=CA2396130787ARVCFc.2605G= (p.Asp869=)
c.2416G= (p.Asp806=)
c.2587G= (p.Asp863=)
c.2398G= (p.Asp800=)
n.1527G=
c.2359G= (p.Asp787=)
c.2572G= (p.Asp858=)
c.1171G= (p.Asp391=)
c.1153G= (p.Asp385=)
n.2692G=
22g.19972773C>GCA410694298ARVCFc.2605G>C (p.Asp869His)
c.2416G>C (p.Asp806His)
c.2587G>C (p.Asp863His)
c.2398G>C (p.Asp800His)
n.1527G>C
c.2359G>C (p.Asp787His)
c.2572G>C (p.Asp858His)
c.1171G>C (p.Asp391His)
c.1153G>C (p.Asp385His)
n.2692G>C
 dbSNP
22g.19972773C>TCA410694299ARVCFc.2605G>A (p.Asp869Asn)
c.2416G>A (p.Asp806Asn)
c.2587G>A (p.Asp863Asn)
c.2398G>A (p.Asp800Asn)
n.1527G>A
c.2359G>A (p.Asp787Asn)
c.2572G>A (p.Asp858Asn)
c.1171G>A (p.Asp391Asn)
c.1153G>A (p.Asp385Asn)
n.2692G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19972774G>ACA10105012ARVCFc.2604C>T (p.Phe868=)
c.2415C>T (p.Phe805=)
c.2586C>T (p.Phe862=)
c.2397C>T (p.Phe799=)
n.1526C>T
c.2358C>T (p.Phe786=)
c.2571C>T (p.Phe857=)
c.1170C>T (p.Phe390=)
c.1152C>T (p.Phe384=)
n.2691C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972774G>CCA410694303ARVCFc.2604C>G (p.Phe868Leu)
c.2415C>G (p.Phe805Leu)
c.2586C>G (p.Phe862Leu)
c.2397C>G (p.Phe799Leu)
n.1526C>G
c.2358C>G (p.Phe786Leu)
c.2571C>G (p.Phe857Leu)
c.1170C>G (p.Phe390Leu)
c.1152C>G (p.Phe384Leu)
n.2691C>G
22g.19972774G=CA2396130788ARVCFc.2604C= (p.Phe868=)
c.2415C= (p.Phe805=)
c.2586C= (p.Phe862=)
c.2397C= (p.Phe799=)
n.1526C=
c.2358C= (p.Phe786=)
c.2571C= (p.Phe857=)
c.1170C= (p.Phe390=)
c.1152C= (p.Phe384=)
n.2691C=
22g.19972774G>TCA410694301ARVCFc.2604C>A (p.Phe868Leu)
c.2415C>A (p.Phe805Leu)
c.2586C>A (p.Phe862Leu)
c.2397C>A (p.Phe799Leu)
n.1526C>A
c.2358C>A (p.Phe786Leu)
c.2571C>A (p.Phe857Leu)
c.1170C>A (p.Phe390Leu)
c.1152C>A (p.Phe384Leu)
n.2691C>A
22g.19972775A>CCA410694306ARVCFc.2603T>G (p.Phe868Cys)
c.2414T>G (p.Phe805Cys)
c.2585T>G (p.Phe862Cys)
c.2396T>G (p.Phe799Cys)
n.1525T>G
c.2357T>G (p.Phe786Cys)
c.2570T>G (p.Phe857Cys)
c.1169T>G (p.Phe390Cys)
c.1151T>G (p.Phe384Cys)
n.2690T>G
22g.19972775A>GCA410694304ARVCFc.2603T>C (p.Phe868Ser)
c.2414T>C (p.Phe805Ser)
c.2585T>C (p.Phe862Ser)
c.2396T>C (p.Phe799Ser)
n.1525T>C
c.2357T>C (p.Phe786Ser)
c.2570T>C (p.Phe857Ser)
c.1169T>C (p.Phe390Ser)
c.1151T>C (p.Phe384Ser)
n.2690T>C
22g.19972775A>TCA410694308ARVCFc.2603T>A (p.Phe868Tyr)
c.2414T>A (p.Phe805Tyr)
c.2585T>A (p.Phe862Tyr)
c.2396T>A (p.Phe799Tyr)
n.1525T>A
c.2357T>A (p.Phe786Tyr)
c.2570T>A (p.Phe857Tyr)
c.1169T>A (p.Phe390Tyr)
c.1151T>A (p.Phe384Tyr)
n.2690T>A
22g.19972776A>CCA410694309ARVCFc.2602T>G (p.Phe868Val)
c.2413T>G (p.Phe805Val)
c.2584T>G (p.Phe862Val)
c.2395T>G (p.Phe799Val)
n.1524T>G
c.2356T>G (p.Phe786Val)
c.2569T>G (p.Phe857Val)
c.1168T>G (p.Phe390Val)
c.1150T>G (p.Phe384Val)
n.2689T>G
22g.19972776A>GCA410694310ARVCFc.2602T>C (p.Phe868Leu)
c.2413T>C (p.Phe805Leu)
c.2584T>C (p.Phe862Leu)
c.2395T>C (p.Phe799Leu)
n.1524T>C
c.2356T>C (p.Phe786Leu)
c.2569T>C (p.Phe857Leu)
c.1168T>C (p.Phe390Leu)
c.1150T>C (p.Phe384Leu)
n.2689T>C
22g.19972776A>TCA410694312ARVCFc.2602T>A (p.Phe868Ile)
c.2413T>A (p.Phe805Ile)
c.2584T>A (p.Phe862Ile)
c.2395T>A (p.Phe799Ile)
n.1524T>A
c.2356T>A (p.Phe786Ile)
c.2569T>A (p.Phe857Ile)
c.1168T>A (p.Phe390Ile)
c.1150T>A (p.Phe384Ile)
n.2689T>A
22g.19972777G>ACA513688561ARVCFc.2601C>T (p.Gly867=)
c.2412C>T (p.Gly804=)
c.2583C>T (p.Gly861=)
c.2394C>T (p.Gly798=)
n.1523C>T
c.2355C>T (p.Gly785=)
c.2568C>T (p.Gly856=)
c.1167C>T (p.Gly389=)
c.1149C>T (p.Gly383=)
n.2688C>T
 gnomAD v4
22g.19972777G>CCA513688563ARVCFc.2601C>G (p.Gly867=)
c.2412C>G (p.Gly804=)
c.2583C>G (p.Gly861=)
c.2394C>G (p.Gly798=)
n.1523C>G
c.2355C>G (p.Gly785=)
c.2568C>G (p.Gly856=)
c.1167C>G (p.Gly389=)
c.1149C>G (p.Gly383=)
n.2688C>G
22g.19972777G>TCA513688562ARVCFc.2601C>A (p.Gly867=)
c.2412C>A (p.Gly804=)
c.2583C>A (p.Gly861=)
c.2394C>A (p.Gly798=)
n.1523C>A
c.2355C>A (p.Gly785=)
c.2568C>A (p.Gly856=)
c.1167C>A (p.Gly389=)
c.1149C>A (p.Gly383=)
n.2688C>A
22g.19972778C>ACA10105013ARVCFc.2600G>T (p.Gly867Val)
c.2411G>T (p.Gly804Val)
c.2582G>T (p.Gly861Val)
c.2393G>T (p.Gly798Val)
n.1522G>T
c.2354G>T (p.Gly785Val)
c.2567G>T (p.Gly856Val)
c.1166G>T (p.Gly389Val)
c.1148G>T (p.Gly383Val)
n.2687G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972778C=CA2396130789ARVCFc.2600G= (p.Gly867=)
c.2411G= (p.Gly804=)
c.2582G= (p.Gly861=)
c.2393G= (p.Gly798=)
n.1522G=
c.2354G= (p.Gly785=)
c.2567G= (p.Gly856=)
c.1166G= (p.Gly389=)
c.1148G= (p.Gly383=)
n.2687G=
22g.19972778C>GCA410694314ARVCFc.2600G>C (p.Gly867Ala)
c.2411G>C (p.Gly804Ala)
c.2582G>C (p.Gly861Ala)
c.2393G>C (p.Gly798Ala)
n.1522G>C
c.2354G>C (p.Gly785Ala)
c.2567G>C (p.Gly856Ala)
c.1166G>C (p.Gly389Ala)
c.1148G>C (p.Gly383Ala)
n.2687G>C
 gnomAD v4
22g.19972778C>TCA410694315ARVCFc.2600G>A (p.Gly867Asp)
c.2411G>A (p.Gly804Asp)
c.2582G>A (p.Gly861Asp)
c.2393G>A (p.Gly798Asp)
n.1522G>A
c.2354G>A (p.Gly785Asp)
c.2567G>A (p.Gly856Asp)
c.1166G>A (p.Gly389Asp)
c.1148G>A (p.Gly383Asp)
n.2687G>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972782delCA2655342407ARVCFc.2600del (p.Gly867AlafsTer24)
c.2411del (p.Gly804AlafsTer24)
c.2582del (p.Gly861AlafsTer24)
c.2393del (p.Gly798AlafsTer24)
n.1522del
c.2354del (p.Gly785AlafsTer24)
c.2567del (p.Gly856AlafsTer24)
c.1166del (p.Gly389AlafsTer24)
c.1148del (p.Gly383AlafsTer24)
n.2687del
 gnomAD v4
22g.19972779C>ACA322126174ARVCFc.2599G>T (p.Gly867Cys)
c.2410G>T (p.Gly804Cys)
c.2581G>T (p.Gly861Cys)
c.2392G>T (p.Gly798Cys)
n.1521G>T
c.2353G>T (p.Gly785Cys)
c.2566G>T (p.Gly856Cys)
c.1165G>T (p.Gly389Cys)
c.1147G>T (p.Gly383Cys)
n.2686G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972779C=CA2396130790ARVCFc.2599G= (p.Gly867=)
c.2410G= (p.Gly804=)
c.2581G= (p.Gly861=)
c.2392G= (p.Gly798=)
n.1521G=
c.2353G= (p.Gly785=)
c.2566G= (p.Gly856=)
c.1165G= (p.Gly389=)
c.1147G= (p.Gly383=)
n.2686G=
22g.19972779C>GCA410694319ARVCFc.2599G>C (p.Gly867Arg)
c.2410G>C (p.Gly804Arg)
c.2581G>C (p.Gly861Arg)
c.2392G>C (p.Gly798Arg)
n.1521G>C
c.2353G>C (p.Gly785Arg)
c.2566G>C (p.Gly856Arg)
c.1165G>C (p.Gly389Arg)
c.1147G>C (p.Gly383Arg)
n.2686G>C
22g.19972779C>TCA410694317ARVCFc.2599G>A (p.Gly867Ser)
c.2410G>A (p.Gly804Ser)
c.2581G>A (p.Gly861Ser)
c.2392G>A (p.Gly798Ser)
n.1521G>A
c.2353G>A (p.Gly785Ser)
c.2566G>A (p.Gly856Ser)
c.1165G>A (p.Gly389Ser)
c.1147G>A (p.Gly383Ser)
n.2686G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972780C>ACA513688564ARVCFc.2598G>T (p.Gly866=)
c.2409G>T (p.Gly803=)
c.2580G>T (p.Gly860=)
c.2391G>T (p.Gly797=)
n.1520G>T
c.2352G>T (p.Gly784=)
c.2565G>T (p.Gly855=)
c.1164G>T (p.Gly388=)
c.1146G>T (p.Gly382=)
n.2685G>T
22g.19972780C=CA2396130791ARVCFc.2598G= (p.Gly866=)
c.2409G= (p.Gly803=)
c.2580G= (p.Gly860=)
c.2391G= (p.Gly797=)
n.1520G=
c.2352G= (p.Gly784=)
c.2565G= (p.Gly855=)
c.1164G= (p.Gly388=)
c.1146G= (p.Gly382=)
n.2685G=
22g.19972780C>GCA513688565ARVCFc.2598G>C (p.Gly866=)
c.2409G>C (p.Gly803=)
c.2580G>C (p.Gly860=)
c.2391G>C (p.Gly797=)
n.1520G>C
c.2352G>C (p.Gly784=)
c.2565G>C (p.Gly855=)
c.1164G>C (p.Gly388=)
c.1146G>C (p.Gly382=)
n.2685G>C
22g.19972780C>TCA513688566ARVCFc.2598G>A (p.Gly866=)
c.2409G>A (p.Gly803=)
c.2580G>A (p.Gly860=)
c.2391G>A (p.Gly797=)
n.1520G>A
c.2352G>A (p.Gly784=)
c.2565G>A (p.Gly855=)
c.1164G>A (p.Gly388=)
c.1146G>A (p.Gly382=)
n.2685G>A
 dbSNP gnomAD v4
22g.19972781C>ACA410694321ARVCFc.2597G>T (p.Gly866Val)
c.2408G>T (p.Gly803Val)
c.2579G>T (p.Gly860Val)
c.2390G>T (p.Gly797Val)
n.1519G>T
c.2351G>T (p.Gly784Val)
c.2564G>T (p.Gly855Val)
c.1163G>T (p.Gly388Val)
c.1145G>T (p.Gly382Val)
n.2684G>T
22g.19972781C>GCA410694323ARVCFc.2597G>C (p.Gly866Ala)
c.2408G>C (p.Gly803Ala)
c.2579G>C (p.Gly860Ala)
c.2390G>C (p.Gly797Ala)
n.1519G>C
c.2351G>C (p.Gly784Ala)
c.2564G>C (p.Gly855Ala)
c.1163G>C (p.Gly388Ala)
c.1145G>C (p.Gly382Ala)
n.2684G>C
22g.19972781C>TCA410694324ARVCFc.2597G>A (p.Gly866Glu)
c.2408G>A (p.Gly803Glu)
c.2579G>A (p.Gly860Glu)
c.2390G>A (p.Gly797Glu)
n.1519G>A
c.2351G>A (p.Gly784Glu)
c.2564G>A (p.Gly855Glu)
c.1163G>A (p.Gly388Glu)
c.1145G>A (p.Gly382Glu)
n.2684G>A
22g.19972782C>ACA410694326ARVCFc.2596G>T (p.Gly866Trp)
c.2407G>T (p.Gly803Trp)
c.2578G>T (p.Gly860Trp)
c.2389G>T (p.Gly797Trp)
n.1518G>T
c.2350G>T (p.Gly784Trp)
c.2563G>T (p.Gly855Trp)
c.1162G>T (p.Gly388Trp)
c.1144G>T (p.Gly382Trp)
n.2683G>T
22g.19972782C=CA2396130792ARVCFc.2596G= (p.Gly866=)
c.2407G= (p.Gly803=)
c.2578G= (p.Gly860=)
c.2389G= (p.Gly797=)
n.1518G=
c.2350G= (p.Gly784=)
c.2563G= (p.Gly855=)
c.1162G= (p.Gly388=)
c.1144G= (p.Gly382=)
n.2683G=
22g.19972782C>GCA410694328ARVCFc.2596G>C (p.Gly866Arg)
c.2407G>C (p.Gly803Arg)
c.2578G>C (p.Gly860Arg)
c.2389G>C (p.Gly797Arg)
n.1518G>C
c.2350G>C (p.Gly784Arg)
c.2563G>C (p.Gly855Arg)
c.1162G>C (p.Gly388Arg)
c.1144G>C (p.Gly382Arg)
n.2683G>C
 dbSNP gnomAD v3 gnomAD v4
22g.19972782C>TCA410694329ARVCFc.2596G>A (p.Gly866Arg)
c.2407G>A (p.Gly803Arg)
c.2578G>A (p.Gly860Arg)
c.2389G>A (p.Gly797Arg)
n.1518G>A
c.2350G>A (p.Gly784Arg)
c.2563G>A (p.Gly855Arg)
c.1162G>A (p.Gly388Arg)
c.1144G>A (p.Gly382Arg)
n.2683G>A
22g.19972783A=CA2396130793ARVCFc.2595T= (p.Pro865=)
c.2406T= (p.Pro802=)
c.2577T= (p.Pro859=)
c.2388T= (p.Pro796=)
n.1517T=
c.2349T= (p.Pro783=)
c.2562T= (p.Pro854=)
c.1161T= (p.Pro387=)
c.1143T= (p.Pro381=)
n.2682T=
22g.19972783A>CCA513688567ARVCFc.2595T>G (p.Pro865=)
c.2406T>G (p.Pro802=)
c.2577T>G (p.Pro859=)
c.2388T>G (p.Pro796=)
n.1517T>G
c.2349T>G (p.Pro783=)
c.2562T>G (p.Pro854=)
c.1161T>G (p.Pro387=)
c.1143T>G (p.Pro381=)
n.2682T>G
22g.19972783A>GCA513688568ARVCFc.2595T>C (p.Pro865=)
c.2406T>C (p.Pro802=)
c.2577T>C (p.Pro859=)
c.2388T>C (p.Pro796=)
n.1517T>C
c.2349T>C (p.Pro783=)
c.2562T>C (p.Pro854=)
c.1161T>C (p.Pro387=)
c.1143T>C (p.Pro381=)
n.2682T>C
 dbSNP gnomAD v3 gnomAD v4
22g.19972783A>TCA513688569ARVCFc.2595T>A (p.Pro865=)
c.2406T>A (p.Pro802=)
c.2577T>A (p.Pro859=)
c.2388T>A (p.Pro796=)
n.1517T>A
c.2349T>A (p.Pro783=)
c.2562T>A (p.Pro854=)
c.1161T>A (p.Pro387=)
c.1143T>A (p.Pro381=)
n.2682T>A
22g.19972784G>ACA10105014ARVCFc.2594C>T (p.Pro865Leu)
c.2405C>T (p.Pro802Leu)
c.2576C>T (p.Pro859Leu)
c.2387C>T (p.Pro796Leu)
n.1516C>T
c.2348C>T (p.Pro783Leu)
c.2561C>T (p.Pro854Leu)
c.1160C>T (p.Pro387Leu)
c.1142C>T (p.Pro381Leu)
n.2681C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972784G>CCA410694333ARVCFc.2594C>G (p.Pro865Arg)
c.2405C>G (p.Pro802Arg)
c.2576C>G (p.Pro859Arg)
c.2387C>G (p.Pro796Arg)
n.1516C>G
c.2348C>G (p.Pro783Arg)
c.2561C>G (p.Pro854Arg)
c.1160C>G (p.Pro387Arg)
c.1142C>G (p.Pro381Arg)
n.2681C>G
 dbSNP gnomAD v4
22g.19972784G=CA2396130794ARVCFc.2594C= (p.Pro865=)
c.2405C= (p.Pro802=)
c.2576C= (p.Pro859=)
c.2387C= (p.Pro796=)
n.1516C=
c.2348C= (p.Pro783=)
c.2561C= (p.Pro854=)
c.1160C= (p.Pro387=)
c.1142C= (p.Pro381=)
n.2681C=
22g.19972784G>TCA410694331ARVCFc.2594C>A (p.Pro865His)
c.2405C>A (p.Pro802His)
c.2576C>A (p.Pro859His)
c.2387C>A (p.Pro796His)
n.1516C>A
c.2348C>A (p.Pro783His)
c.2561C>A (p.Pro854His)
c.1160C>A (p.Pro387His)
c.1142C>A (p.Pro381His)
n.2681C>A
22g.19972785G>ACA10105015ARVCFc.2593C>T (p.Pro865Ser)
c.2404C>T (p.Pro802Ser)
c.2575C>T (p.Pro859Ser)
c.2386C>T (p.Pro796Ser)
n.1515C>T
c.2347C>T (p.Pro783Ser)
c.2560C>T (p.Pro854Ser)
c.1159C>T (p.Pro387Ser)
c.1141C>T (p.Pro381Ser)
n.2680C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972785G>CCA410694335ARVCFc.2593C>G (p.Pro865Ala)
c.2404C>G (p.Pro802Ala)
c.2575C>G (p.Pro859Ala)
c.2386C>G (p.Pro796Ala)
n.1515C>G
c.2347C>G (p.Pro783Ala)
c.2560C>G (p.Pro854Ala)
c.1159C>G (p.Pro387Ala)
c.1141C>G (p.Pro381Ala)
n.2680C>G
22g.19972785G=CA2396130795ARVCFc.2593C= (p.Pro865=)
c.2404C= (p.Pro802=)
c.2575C= (p.Pro859=)
c.2386C= (p.Pro796=)
n.1515C=
c.2347C= (p.Pro783=)
c.2560C= (p.Pro854=)
c.1159C= (p.Pro387=)
c.1141C= (p.Pro381=)
n.2680C=
22g.19972785G>TCA410694337ARVCFc.2593C>A (p.Pro865Thr)
c.2404C>A (p.Pro802Thr)
c.2575C>A (p.Pro859Thr)
c.2386C>A (p.Pro796Thr)
n.1515C>A
c.2347C>A (p.Pro783Thr)
c.2560C>A (p.Pro854Thr)
c.1159C>A (p.Pro387Thr)
c.1141C>A (p.Pro381Thr)
n.2680C>A
22g.19972786A>CCA410694339ARVCFc.2592T>G (p.Ser864Arg)
c.2403T>G (p.Ser801Arg)
c.2574T>G (p.Ser858Arg)
c.2385T>G (p.Ser795Arg)
n.1514T>G
c.2346T>G (p.Ser782Arg)
c.2559T>G (p.Ser853Arg)
c.1158T>G (p.Ser386Arg)
c.1140T>G (p.Ser380Arg)
n.2679T>G
22g.19972786A>GCA513688570ARVCFc.2592T>C (p.Ser864=)
c.2403T>C (p.Ser801=)
c.2574T>C (p.Ser858=)
c.2385T>C (p.Ser795=)
n.1514T>C
c.2346T>C (p.Ser782=)
c.2559T>C (p.Ser853=)
c.1158T>C (p.Ser386=)
c.1140T>C (p.Ser380=)
n.2679T>C
22g.19972786A>TCA410694340ARVCFc.2592T>A (p.Ser864Arg)
c.2403T>A (p.Ser801Arg)
c.2574T>A (p.Ser858Arg)
c.2385T>A (p.Ser795Arg)
n.1514T>A
c.2346T>A (p.Ser782Arg)
c.2559T>A (p.Ser853Arg)
c.1158T>A (p.Ser386Arg)
c.1140T>A (p.Ser380Arg)
n.2679T>A
22g.19972787C>ACA410694341ARVCFc.2591G>T (p.Ser864Ile)
c.2402G>T (p.Ser801Ile)
c.2573G>T (p.Ser858Ile)
c.2384G>T (p.Ser795Ile)
n.1513G>T
c.2345G>T (p.Ser782Ile)
c.2558G>T (p.Ser853Ile)
c.1157G>T (p.Ser386Ile)
c.1139G>T (p.Ser380Ile)
n.2678G>T
22g.19972787C>GCA410694343ARVCFc.2591G>C (p.Ser864Thr)
c.2402G>C (p.Ser801Thr)
c.2573G>C (p.Ser858Thr)
c.2384G>C (p.Ser795Thr)
n.1513G>C
c.2345G>C (p.Ser782Thr)
c.2558G>C (p.Ser853Thr)
c.1157G>C (p.Ser386Thr)
c.1139G>C (p.Ser380Thr)
n.2678G>C
22g.19972787C>TCA410694344ARVCFc.2591G>A (p.Ser864Asn)
c.2402G>A (p.Ser801Asn)
c.2573G>A (p.Ser858Asn)
c.2384G>A (p.Ser795Asn)
n.1513G>A
c.2345G>A (p.Ser782Asn)
c.2558G>A (p.Ser853Asn)
c.1157G>A (p.Ser386Asn)
c.1139G>A (p.Ser380Asn)
n.2678G>A
 gnomAD v4
22g.19972788T>ACA410694346ARVCFc.2590A>T (p.Ser864Cys)
c.2401A>T (p.Ser801Cys)
c.2572A>T (p.Ser858Cys)
c.2383A>T (p.Ser795Cys)
n.1512A>T
c.2344A>T (p.Ser782Cys)
c.2557A>T (p.Ser853Cys)
c.1156A>T (p.Ser386Cys)
c.1138A>T (p.Ser380Cys)
n.2677A>T
22g.19972788T>CCA410694347ARVCFc.2590A>G (p.Ser864Gly)
c.2401A>G (p.Ser801Gly)
c.2572A>G (p.Ser858Gly)
c.2383A>G (p.Ser795Gly)
n.1512A>G
c.2344A>G (p.Ser782Gly)
c.2557A>G (p.Ser853Gly)
c.1156A>G (p.Ser386Gly)
c.1138A>G (p.Ser380Gly)
n.2677A>G
22g.19972788T>GCA410694349ARVCFc.2590A>C (p.Ser864Arg)
c.2401A>C (p.Ser801Arg)
c.2572A>C (p.Ser858Arg)
c.2383A>C (p.Ser795Arg)
n.1512A>C
c.2344A>C (p.Ser782Arg)
c.2557A>C (p.Ser853Arg)
c.1156A>C (p.Ser386Arg)
c.1138A>C (p.Ser380Arg)
n.2677A>C
22g.19972789C>ACA513688573ARVCFc.2589G>T (p.Leu863=)
c.2400G>T (p.Leu800=)
c.2571G>T (p.Leu857=)
c.2382G>T (p.Leu794=)
n.1511G>T
c.2343G>T (p.Leu781=)
c.2556G>T (p.Leu852=)
c.1155G>T (p.Leu385=)
c.1137G>T (p.Leu379=)
n.2676G>T
22g.19972789C>GCA513688571ARVCFc.2589G>C (p.Leu863=)
c.2400G>C (p.Leu800=)
c.2571G>C (p.Leu857=)
c.2382G>C (p.Leu794=)
n.1511G>C
c.2343G>C (p.Leu781=)
c.2556G>C (p.Leu852=)
c.1155G>C (p.Leu385=)
c.1137G>C (p.Leu379=)
n.2676G>C
22g.19972789C>TCA513688572ARVCFc.2589G>A (p.Leu863=)
c.2400G>A (p.Leu800=)
c.2571G>A (p.Leu857=)
c.2382G>A (p.Leu794=)
n.1511G>A
c.2343G>A (p.Leu781=)
c.2556G>A (p.Leu852=)
c.1155G>A (p.Leu385=)
c.1137G>A (p.Leu379=)
n.2676G>A
22g.19972789_19972791delinsCAGCA2396130796ARVCFc.2587_2589delinsCTG (p.Leu863=)
c.2398_2400delinsCTG (p.Leu800=)
c.2569_2571delinsCTG (p.Leu857=)
c.2380_2382delinsCTG (p.Leu794=)
n.1509_1511delinsCTG
c.2341_2343delinsCTG (p.Leu781=)
c.2554_2556delinsCTG (p.Leu852=)
c.1153_1155delinsCTG (p.Leu385=)
c.1135_1137delinsCTG (p.Leu379=)
n.2674_2676delinsCTG
22g.19972790A=CA2396130797ARVCFc.2588T= (p.Leu863=)
c.2399T= (p.Leu800=)
c.2570T= (p.Leu857=)
c.2381T= (p.Leu794=)
n.1510T=
c.2342T= (p.Leu781=)
c.2555T= (p.Leu852=)
c.1154T= (p.Leu385=)
c.1136T= (p.Leu379=)
n.2675T=
22g.19972790A>CCA410694351ARVCFc.2588T>G (p.Leu863Arg)
c.2399T>G (p.Leu800Arg)
c.2570T>G (p.Leu857Arg)
c.2381T>G (p.Leu794Arg)
n.1510T>G
c.2342T>G (p.Leu781Arg)
c.2555T>G (p.Leu852Arg)
c.1154T>G (p.Leu385Arg)
c.1136T>G (p.Leu379Arg)
n.2675T>G
22g.19972790A>GCA10105017ARVCFc.2588T>C (p.Leu863Pro)
c.2399T>C (p.Leu800Pro)
c.2570T>C (p.Leu857Pro)
c.2381T>C (p.Leu794Pro)
n.1510T>C
c.2342T>C (p.Leu781Pro)
c.2555T>C (p.Leu852Pro)
c.1154T>C (p.Leu385Pro)
c.1136T>C (p.Leu379Pro)
n.2675T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972790A>TCA410694354ARVCFc.2588T>A (p.Leu863Gln)
c.2399T>A (p.Leu800Gln)
c.2570T>A (p.Leu857Gln)
c.2381T>A (p.Leu794Gln)
n.1510T>A
c.2342T>A (p.Leu781Gln)
c.2555T>A (p.Leu852Gln)
c.1154T>A (p.Leu385Gln)
c.1136T>A (p.Leu379Gln)
n.2675T>A
22g.19972790_19972791delCA10105016ARVCFc.2587_2588del (p.Leu863GlufsTer7)
c.2398_2399del (p.Leu800GlufsTer7)
c.2569_2570del (p.Leu857GlufsTer7)
c.2380_2381del (p.Leu794GlufsTer7)
n.1509_1510del
c.2341_2342del (p.Leu781GlufsTer7)
c.2554_2555del (p.Leu852GlufsTer7)
c.1153_1154del (p.Leu385GlufsTer7)
c.1135_1136del (p.Leu379GlufsTer7)
n.2674_2675del
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972791G>ACA10105018ARVCFc.2587C>T (p.Leu863=)
c.2398C>T (p.Leu800=)
c.2569C>T (p.Leu857=)
c.2380C>T (p.Leu794=)
n.1509C>T
c.2341C>T (p.Leu781=)
c.2554C>T (p.Leu852=)
c.1153C>T (p.Leu385=)
c.1135C>T (p.Leu379=)
n.2674C>T
 dbSNP ExAC gnomAD v4
22g.19972791G>CCA410694355ARVCFc.2587C>G (p.Leu863Val)
c.2398C>G (p.Leu800Val)
c.2569C>G (p.Leu857Val)
c.2380C>G (p.Leu794Val)
n.1509C>G
c.2341C>G (p.Leu781Val)
c.2554C>G (p.Leu852Val)
c.1153C>G (p.Leu385Val)
c.1135C>G (p.Leu379Val)
n.2674C>G
22g.19972791G=CA2396130798ARVCFc.2587C= (p.Leu863=)
c.2398C= (p.Leu800=)
c.2569C= (p.Leu857=)
c.2380C= (p.Leu794=)
n.1509C=
c.2341C= (p.Leu781=)
c.2554C= (p.Leu852=)
c.1153C= (p.Leu385=)
c.1135C= (p.Leu379=)
n.2674C=
22g.19972791G>TCA410694357ARVCFc.2587C>A (p.Leu863Met)
c.2398C>A (p.Leu800Met)
c.2569C>A (p.Leu857Met)
c.2380C>A (p.Leu794Met)
n.1509C>A
c.2341C>A (p.Leu781Met)
c.2554C>A (p.Leu852Met)
c.1153C>A (p.Leu385Met)
c.1135C>A (p.Leu379Met)
n.2674C>A
 gnomAD v4
22g.19972791_19972794delCA2655342408ARVCFc.2584_2587del (p.Ala862Ter)
c.2395_2398del (p.Ala799Ter)
c.2566_2569del (p.Ala856Ter)
c.2377_2380del (p.Ala793Ter)
n.1506_1509del
c.2338_2341del (p.Ala780Ter)
c.2551_2554del (p.Ala851Ter)
c.1150_1153del (p.Ala384Ter)
c.1132_1135del (p.Ala378Ter)
n.2671_2674del
 gnomAD v4
22g.19972792T>ACA513688574ARVCFc.2586A>T (p.Ala862=)
c.2397A>T (p.Ala799=)
c.2568A>T (p.Ala856=)
c.2379A>T (p.Ala793=)
n.1508A>T
c.2340A>T (p.Ala780=)
c.2553A>T (p.Ala851=)
c.1152A>T (p.Ala384=)
c.1134A>T (p.Ala378=)
n.2673A>T
22g.19972792T>CCA513688575ARVCFc.2586A>G (p.Ala862=)
c.2397A>G (p.Ala799=)
c.2568A>G (p.Ala856=)
c.2379A>G (p.Ala793=)
n.1508A>G
c.2340A>G (p.Ala780=)
c.2553A>G (p.Ala851=)
c.1152A>G (p.Ala384=)
c.1134A>G (p.Ala378=)
n.2673A>G
22g.19972792T>GCA513688576ARVCFc.2586A>C (p.Ala862=)
c.2397A>C (p.Ala799=)
c.2568A>C (p.Ala856=)
c.2379A>C (p.Ala793=)
n.1508A>C
c.2340A>C (p.Ala780=)
c.2553A>C (p.Ala851=)
c.1152A>C (p.Ala384=)
c.1134A>C (p.Ala378=)
n.2673A>C
22g.19972793G>ACA410694359ARVCFc.2585C>T (p.Ala862Val)
c.2396C>T (p.Ala799Val)
c.2567C>T (p.Ala856Val)
c.2378C>T (p.Ala793Val)
n.1507C>T
c.2339C>T (p.Ala780Val)
c.2552C>T (p.Ala851Val)
c.1151C>T (p.Ala384Val)
c.1133C>T (p.Ala378Val)
n.2672C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972793G>CCA410694361ARVCFc.2585C>G (p.Ala862Gly)
c.2396C>G (p.Ala799Gly)
c.2567C>G (p.Ala856Gly)
c.2378C>G (p.Ala793Gly)
n.1507C>G
c.2339C>G (p.Ala780Gly)
c.2552C>G (p.Ala851Gly)
c.1151C>G (p.Ala384Gly)
c.1133C>G (p.Ala378Gly)
n.2672C>G
22g.19972793G=CA2396130799ARVCFc.2585C= (p.Ala862=)
c.2396C= (p.Ala799=)
c.2567C= (p.Ala856=)
c.2378C= (p.Ala793=)
n.1507C=
c.2339C= (p.Ala780=)
c.2552C= (p.Ala851=)
c.1151C= (p.Ala384=)
c.1133C= (p.Ala378=)
n.2672C=
22g.19972793G>TCA410694362ARVCFc.2585C>A (p.Ala862Glu)
c.2396C>A (p.Ala799Glu)
c.2567C>A (p.Ala856Glu)
c.2378C>A (p.Ala793Glu)
n.1507C>A
c.2339C>A (p.Ala780Glu)
c.2552C>A (p.Ala851Glu)
c.1151C>A (p.Ala384Glu)
c.1133C>A (p.Ala378Glu)
n.2672C>A
22g.19972794C>ACA410694364ARVCFc.2584G>T (p.Ala862Ser)
c.2395G>T (p.Ala799Ser)
c.2566G>T (p.Ala856Ser)
c.2377G>T (p.Ala793Ser)
n.1506G>T
c.2338G>T (p.Ala780Ser)
c.2551G>T (p.Ala851Ser)
c.1150G>T (p.Ala384Ser)
c.1132G>T (p.Ala378Ser)
n.2671G>T
22g.19972794C>GCA410694366ARVCFc.2584G>C (p.Ala862Pro)
c.2395G>C (p.Ala799Pro)
c.2566G>C (p.Ala856Pro)
c.2377G>C (p.Ala793Pro)
n.1506G>C
c.2338G>C (p.Ala780Pro)
c.2551G>C (p.Ala851Pro)
c.1150G>C (p.Ala384Pro)
c.1132G>C (p.Ala378Pro)
n.2671G>C
 gnomAD v4
22g.19972794C>TCA410694368ARVCFc.2584G>A (p.Ala862Thr)
c.2395G>A (p.Ala799Thr)
c.2566G>A (p.Ala856Thr)
c.2377G>A (p.Ala793Thr)
n.1506G>A
c.2338G>A (p.Ala780Thr)
c.2551G>A (p.Ala851Thr)
c.1150G>A (p.Ala384Thr)
c.1132G>A (p.Ala378Thr)
n.2671G>A
22g.19972795T>ACA513688577ARVCFc.2583A>T (p.Gly861=)
c.2394A>T (p.Gly798=)
c.2565A>T (p.Gly855=)
c.2376A>T (p.Gly792=)
n.1505A>T
c.2337A>T (p.Gly779=)
c.2550A>T (p.Gly850=)
c.1149A>T (p.Gly383=)
c.1131A>T (p.Gly377=)
n.2670A>T
22g.19972795T>CCA513688578ARVCFc.2583A>G (p.Gly861=)
c.2394A>G (p.Gly798=)
c.2565A>G (p.Gly855=)
c.2376A>G (p.Gly792=)
n.1505A>G
c.2337A>G (p.Gly779=)
c.2550A>G (p.Gly850=)
c.1149A>G (p.Gly383=)
c.1131A>G (p.Gly377=)
n.2670A>G
 gnomAD v4
22g.19972795T>GCA513688579ARVCFc.2583A>C (p.Gly861=)
c.2394A>C (p.Gly798=)
c.2565A>C (p.Gly855=)
c.2376A>C (p.Gly792=)
n.1505A>C
c.2337A>C (p.Gly779=)
c.2550A>C (p.Gly850=)
c.1149A>C (p.Gly383=)
c.1131A>C (p.Gly377=)
n.2670A>C
22g.19972796C>ACA410694369ARVCFc.2582G>T (p.Gly861Val)
c.2393G>T (p.Gly798Val)
c.2564G>T (p.Gly855Val)
c.2375G>T (p.Gly792Val)
n.1504G>T
c.2336G>T (p.Gly779Val)
c.2549G>T (p.Gly850Val)
c.1148G>T (p.Gly383Val)
c.1130G>T (p.Gly377Val)
n.2669G>T
22g.19972796C>GCA410694371ARVCFc.2582G>C (p.Gly861Ala)
c.2393G>C (p.Gly798Ala)
c.2564G>C (p.Gly855Ala)
c.2375G>C (p.Gly792Ala)
n.1504G>C
c.2336G>C (p.Gly779Ala)
c.2549G>C (p.Gly850Ala)
c.1148G>C (p.Gly383Ala)
c.1130G>C (p.Gly377Ala)
n.2669G>C
22g.19972796C>TCA410694373ARVCFc.2582G>A (p.Gly861Glu)
c.2393G>A (p.Gly798Glu)
c.2564G>A (p.Gly855Glu)
c.2375G>A (p.Gly792Glu)
n.1504G>A
c.2336G>A (p.Gly779Glu)
c.2549G>A (p.Gly850Glu)
c.1148G>A (p.Gly383Glu)
c.1130G>A (p.Gly377Glu)
n.2669G>A
 gnomAD v4
22g.19972797C>ACA410694375ARVCFc.2581G>T (p.Gly861Ter)
c.2392G>T (p.Gly798Ter)
c.2563G>T (p.Gly855Ter)
c.2374G>T (p.Gly792Ter)
n.1503G>T
c.2335G>T (p.Gly779Ter)
c.2548G>T (p.Gly850Ter)
c.1147G>T (p.Gly383Ter)
c.1129G>T (p.Gly377Ter)
n.2668G>T
22g.19972797C>GCA410694378ARVCFc.2581G>C (p.Gly861Arg)
c.2392G>C (p.Gly798Arg)
c.2563G>C (p.Gly855Arg)
c.2374G>C (p.Gly792Arg)
n.1503G>C
c.2335G>C (p.Gly779Arg)
c.2548G>C (p.Gly850Arg)
c.1147G>C (p.Gly383Arg)
c.1129G>C (p.Gly377Arg)
n.2668G>C
22g.19972797C>TCA410694377ARVCFc.2581G>A (p.Gly861Arg)
c.2392G>A (p.Gly798Arg)
c.2563G>A (p.Gly855Arg)
c.2374G>A (p.Gly792Arg)
n.1503G>A
c.2335G>A (p.Gly779Arg)
c.2548G>A (p.Gly850Arg)
c.1147G>A (p.Gly383Arg)
c.1129G>A (p.Gly377Arg)
n.2668G>A
22g.19972797_19972798insTACA2655342410ARVCFc.2580_2581insTA (p.Gly861Ter)
c.2391_2392insTA (p.Gly798Ter)
c.2562_2563insTA (p.Gly855Ter)
c.2373_2374insTA (p.Gly792Ter)
n.1502_1503insTA
c.2334_2335insTA (p.Gly779Ter)
c.2547_2548insTA (p.Gly850Ter)
c.1146_1147insTA (p.Gly383Ter)
c.1128_1129insTA (p.Gly377Ter)
n.2667_2668insTA
 gnomAD v4
22g.19972798C>ACA410694380ARVCFc.2580G>T (p.Lys860Asn)
c.2391G>T (p.Lys797Asn)
c.2562G>T (p.Lys854Asn)
c.2373G>T (p.Lys791Asn)
n.1502G>T
c.2334G>T (p.Lys778Asn)
c.2547G>T (p.Lys849Asn)
c.1146G>T (p.Lys382Asn)
c.1128G>T (p.Lys376Asn)
n.2667G>T
 gnomAD v4
22g.19972798C=CA2396130800ARVCFc.2580G= (p.Lys860=)
c.2391G= (p.Lys797=)
c.2562G= (p.Lys854=)
c.2373G= (p.Lys791=)
n.1502G=
c.2334G= (p.Lys778=)
c.2547G= (p.Lys849=)
c.1146G= (p.Lys382=)
c.1128G= (p.Lys376=)
n.2667G=
22g.19972798C>GCA410694382ARVCFc.2580G>C (p.Lys860Asn)
c.2391G>C (p.Lys797Asn)
c.2562G>C (p.Lys854Asn)
c.2373G>C (p.Lys791Asn)
n.1502G>C
c.2334G>C (p.Lys778Asn)
c.2547G>C (p.Lys849Asn)
c.1146G>C (p.Lys382Asn)
c.1128G>C (p.Lys376Asn)
n.2667G>C
 dbSNP
22g.19972798C>TCA10105019ARVCFc.2580G>A (p.Lys860=)
c.2391G>A (p.Lys797=)
c.2562G>A (p.Lys854=)
c.2373G>A (p.Lys791=)
n.1502G>A
c.2334G>A (p.Lys778=)
c.2547G>A (p.Lys849=)
c.1146G>A (p.Lys382=)
c.1128G>A (p.Lys376=)
n.2667G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972799T>ACA410694384ARVCFc.2579A>T (p.Lys860Met)
c.2390A>T (p.Lys797Met)
c.2561A>T (p.Lys854Met)
c.2372A>T (p.Lys791Met)
n.1501A>T
c.2333A>T (p.Lys778Met)
c.2546A>T (p.Lys849Met)
c.1145A>T (p.Lys382Met)
c.1127A>T (p.Lys376Met)
n.2666A>T
22g.19972799T>CCA410694386ARVCFc.2579A>G (p.Lys860Arg)
c.2390A>G (p.Lys797Arg)
c.2561A>G (p.Lys854Arg)
c.2372A>G (p.Lys791Arg)
n.1501A>G
c.2333A>G (p.Lys778Arg)
c.2546A>G (p.Lys849Arg)
c.1145A>G (p.Lys382Arg)
c.1127A>G (p.Lys376Arg)
n.2666A>G
22g.19972799T>GCA410694387ARVCFc.2579A>C (p.Lys860Thr)
c.2390A>C (p.Lys797Thr)
c.2561A>C (p.Lys854Thr)
c.2372A>C (p.Lys791Thr)
n.1501A>C
c.2333A>C (p.Lys778Thr)
c.2546A>C (p.Lys849Thr)
c.1145A>C (p.Lys382Thr)
c.1127A>C (p.Lys376Thr)
n.2666A>C
22g.19972800T>ACA410694388ARVCFc.2578A>T (p.Lys860Ter)
c.2389A>T (p.Lys797Ter)
c.2560A>T (p.Lys854Ter)
c.2371A>T (p.Lys791Ter)
n.1500A>T
c.2332A>T (p.Lys778Ter)
c.2545A>T (p.Lys849Ter)
c.1144A>T (p.Lys382Ter)
c.1126A>T (p.Lys376Ter)
n.2665A>T
22g.19972800T>CCA410694390ARVCFc.2578A>G (p.Lys860Glu)
c.2389A>G (p.Lys797Glu)
c.2560A>G (p.Lys854Glu)
c.2371A>G (p.Lys791Glu)
n.1500A>G
c.2332A>G (p.Lys778Glu)
c.2545A>G (p.Lys849Glu)
c.1144A>G (p.Lys382Glu)
c.1126A>G (p.Lys376Glu)
n.2665A>G
 gnomAD v4
22g.19972800T>GCA410694392ARVCFc.2578A>C (p.Lys860Gln)
c.2389A>C (p.Lys797Gln)
c.2560A>C (p.Lys854Gln)
c.2371A>C (p.Lys791Gln)
n.1500A>C
c.2332A>C (p.Lys778Gln)
c.2545A>C (p.Lys849Gln)
c.1144A>C (p.Lys382Gln)
c.1126A>C (p.Lys376Gln)
n.2665A>C
22g.19972801A=CA2396130801ARVCFc.2577T= (p.Pro859=)
c.2388T= (p.Pro796=)
c.2559T= (p.Pro853=)
c.2370T= (p.Pro790=)
n.1499T=
c.2331T= (p.Pro777=)
c.2544T= (p.Pro848=)
c.1143T= (p.Pro381=)
c.1125T= (p.Pro375=)
n.2664T=
22g.19972801A>CCA10105020ARVCFc.2577T>G (p.Pro859=)
c.2388T>G (p.Pro796=)
c.2559T>G (p.Pro853=)
c.2370T>G (p.Pro790=)
n.1499T>G
c.2331T>G (p.Pro777=)
c.2544T>G (p.Pro848=)
c.1143T>G (p.Pro381=)
c.1125T>G (p.Pro375=)
n.2664T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972801A>GCA513688580ARVCFc.2577T>C (p.Pro859=)
c.2388T>C (p.Pro796=)
c.2559T>C (p.Pro853=)
c.2370T>C (p.Pro790=)
n.1499T>C
c.2331T>C (p.Pro777=)
c.2544T>C (p.Pro848=)
c.1143T>C (p.Pro381=)
c.1125T>C (p.Pro375=)
n.2664T>C
22g.19972801A>TCA513688581ARVCFc.2577T>A (p.Pro859=)
c.2388T>A (p.Pro796=)
c.2559T>A (p.Pro853=)
c.2370T>A (p.Pro790=)
n.1499T>A
c.2331T>A (p.Pro777=)
c.2544T>A (p.Pro848=)
c.1143T>A (p.Pro381=)
c.1125T>A (p.Pro375=)
n.2664T>A
22g.19972802G>ACA410694394ARVCFc.2576C>T (p.Pro859Leu)
c.2387C>T (p.Pro796Leu)
c.2558C>T (p.Pro853Leu)
c.2369C>T (p.Pro790Leu)
n.1498C>T
c.2330C>T (p.Pro777Leu)
c.2543C>T (p.Pro848Leu)
c.1142C>T (p.Pro381Leu)
c.1124C>T (p.Pro375Leu)
n.2663C>T
 dbSNP gnomAD v2 gnomAD v4
22g.19972802G>CCA410694396ARVCFc.2576C>G (p.Pro859Arg)
c.2387C>G (p.Pro796Arg)
c.2558C>G (p.Pro853Arg)
c.2369C>G (p.Pro790Arg)
n.1498C>G
c.2330C>G (p.Pro777Arg)
c.2543C>G (p.Pro848Arg)
c.1142C>G (p.Pro381Arg)
c.1124C>G (p.Pro375Arg)
n.2663C>G
 dbSNP gnomAD v4
22g.19972802G=CA2396130802ARVCFc.2576C= (p.Pro859=)
c.2387C= (p.Pro796=)
c.2558C= (p.Pro853=)
c.2369C= (p.Pro790=)
n.1498C=
c.2330C= (p.Pro777=)
c.2543C= (p.Pro848=)
c.1142C= (p.Pro381=)
c.1124C= (p.Pro375=)
n.2663C=
22g.19972802G>TCA410694393ARVCFc.2576C>A (p.Pro859His)
c.2387C>A (p.Pro796His)
c.2558C>A (p.Pro853His)
c.2369C>A (p.Pro790His)
n.1498C>A
c.2330C>A (p.Pro777His)
c.2543C>A (p.Pro848His)
c.1142C>A (p.Pro381His)
c.1124C>A (p.Pro375His)
n.2663C>A
22g.19972803G>ACA10105021ARVCFc.2575C>T (p.Pro859Ser)
c.2386C>T (p.Pro796Ser)
c.2557C>T (p.Pro853Ser)
c.2368C>T (p.Pro790Ser)
n.1497C>T
c.2329C>T (p.Pro777Ser)
c.2542C>T (p.Pro848Ser)
c.1141C>T (p.Pro381Ser)
c.1123C>T (p.Pro375Ser)
n.2662C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972803G>CCA410694399ARVCFc.2575C>G (p.Pro859Ala)
c.2386C>G (p.Pro796Ala)
c.2557C>G (p.Pro853Ala)
c.2368C>G (p.Pro790Ala)
n.1497C>G
c.2329C>G (p.Pro777Ala)
c.2542C>G (p.Pro848Ala)
c.1141C>G (p.Pro381Ala)
c.1123C>G (p.Pro375Ala)
n.2662C>G
22g.19972803G=CA2396130803ARVCFc.2575C= (p.Pro859=)
c.2386C= (p.Pro796=)
c.2557C= (p.Pro853=)
c.2368C= (p.Pro790=)
n.1497C=
c.2329C= (p.Pro777=)
c.2542C= (p.Pro848=)
c.1141C= (p.Pro381=)
c.1123C= (p.Pro375=)
n.2662C=
22g.19972803G>TCA410694400ARVCFc.2575C>A (p.Pro859Thr)
c.2386C>A (p.Pro796Thr)
c.2557C>A (p.Pro853Thr)
c.2368C>A (p.Pro790Thr)
n.1497C>A
c.2329C>A (p.Pro777Thr)
c.2542C>A (p.Pro848Thr)
c.1141C>A (p.Pro381Thr)
c.1123C>A (p.Pro375Thr)
n.2662C>A
22g.19972804C>ACA513688582ARVCFc.2574G>T (p.Gly858=)
c.2385G>T (p.Gly795=)
c.2556G>T (p.Gly852=)
c.2367G>T (p.Gly789=)
n.1496G>T
c.2328G>T (p.Gly776=)
c.2541G>T (p.Gly847=)
c.1140G>T (p.Gly380=)
c.1122G>T (p.Gly374=)
n.2661G>T
22g.19972804C>GCA513688583ARVCFc.2574G>C (p.Gly858=)
c.2385G>C (p.Gly795=)
c.2556G>C (p.Gly852=)
c.2367G>C (p.Gly789=)
n.1496G>C
c.2328G>C (p.Gly776=)
c.2541G>C (p.Gly847=)
c.1140G>C (p.Gly380=)
c.1122G>C (p.Gly374=)
n.2661G>C
22g.19972804C>TCA513688584ARVCFc.2574G>A (p.Gly858=)
c.2385G>A (p.Gly795=)
c.2556G>A (p.Gly852=)
c.2367G>A (p.Gly789=)
n.1496G>A
c.2328G>A (p.Gly776=)
c.2541G>A (p.Gly847=)
c.1140G>A (p.Gly380=)
c.1122G>A (p.Gly374=)
n.2661G>A
22g.19972805C>ACA410694402ARVCFc.2573G>T (p.Gly858Val)
c.2384G>T (p.Gly795Val)
c.2555G>T (p.Gly852Val)
c.2366G>T (p.Gly789Val)
n.1495G>T
c.2327G>T (p.Gly776Val)
c.2540G>T (p.Gly847Val)
c.1139G>T (p.Gly380Val)
c.1121G>T (p.Gly374Val)
n.2660G>T
22g.19972805C=CA2396130804ARVCFc.2573G= (p.Gly858=)
c.2384G= (p.Gly795=)
c.2555G= (p.Gly852=)
c.2366G= (p.Gly789=)
n.1495G=
c.2327G= (p.Gly776=)
c.2540G= (p.Gly847=)
c.1139G= (p.Gly380=)
c.1121G= (p.Gly374=)
n.2660G=
22g.19972805C>GCA410694404ARVCFc.2573G>C (p.Gly858Ala)
c.2384G>C (p.Gly795Ala)
c.2555G>C (p.Gly852Ala)
c.2366G>C (p.Gly789Ala)
n.1495G>C
c.2327G>C (p.Gly776Ala)
c.2540G>C (p.Gly847Ala)
c.1139G>C (p.Gly380Ala)
c.1121G>C (p.Gly374Ala)
n.2660G>C
22g.19972805C>TCA10105022ARVCFc.2573G>A (p.Gly858Glu)
c.2384G>A (p.Gly795Glu)
c.2555G>A (p.Gly852Glu)
c.2366G>A (p.Gly789Glu)
n.1495G>A
c.2327G>A (p.Gly776Glu)
c.2540G>A (p.Gly847Glu)
c.1139G>A (p.Gly380Glu)
c.1121G>A (p.Gly374Glu)
n.2660G>A
 dbSNP ExAC gnomAD v2
22g.19972806C>ACA410694409ARVCFc.2572G>T (p.Gly858Trp)
c.2383G>T (p.Gly795Trp)
c.2554G>T (p.Gly852Trp)
c.2365G>T (p.Gly789Trp)
n.1494G>T
c.2326G>T (p.Gly776Trp)
c.2539G>T (p.Gly847Trp)
c.1138G>T (p.Gly380Trp)
c.1120G>T (p.Gly374Trp)
n.2659G>T
22g.19972806C=CA2396130805ARVCFc.2572G= (p.Gly858=)
c.2383G= (p.Gly795=)
c.2554G= (p.Gly852=)
c.2365G= (p.Gly789=)
n.1494G=
c.2326G= (p.Gly776=)
c.2539G= (p.Gly847=)
c.1138G= (p.Gly380=)
c.1120G= (p.Gly374=)
n.2659G=
22g.19972806C>GCA410694406ARVCFc.2572G>C (p.Gly858Arg)
c.2383G>C (p.Gly795Arg)
c.2554G>C (p.Gly852Arg)
c.2365G>C (p.Gly789Arg)
n.1494G>C
c.2326G>C (p.Gly776Arg)
c.2539G>C (p.Gly847Arg)
c.1138G>C (p.Gly380Arg)
c.1120G>C (p.Gly374Arg)
n.2659G>C
22g.19972806C>TCA10105023ARVCFc.2572G>A (p.Gly858Arg)
c.2383G>A (p.Gly795Arg)
c.2554G>A (p.Gly852Arg)
c.2365G>A (p.Gly789Arg)
n.1494G>A
c.2326G>A (p.Gly776Arg)
c.2539G>A (p.Gly847Arg)
c.1138G>A (p.Gly380Arg)
c.1120G>A (p.Gly374Arg)
n.2659G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972807C>ACA410694410ARVCFc.2571G>T (p.Lys857Asn)
c.2382G>T (p.Lys794Asn)
c.2553G>T (p.Lys851Asn)
c.2364G>T (p.Lys788Asn)
n.1493G>T
c.2325G>T (p.Lys775Asn)
c.2538G>T (p.Lys846Asn)
c.1137G>T (p.Lys379Asn)
c.1119G>T (p.Lys373Asn)
n.2658G>T
22g.19972807C=CA2396130806ARVCFc.2571G= (p.Lys857=)
c.2382G= (p.Lys794=)
c.2553G= (p.Lys851=)
c.2364G= (p.Lys788=)
n.1493G=
c.2325G= (p.Lys775=)
c.2538G= (p.Lys846=)
c.1137G= (p.Lys379=)
c.1119G= (p.Lys373=)
n.2658G=
22g.19972807C>GCA410694412ARVCFc.2571G>C (p.Lys857Asn)
c.2382G>C (p.Lys794Asn)
c.2553G>C (p.Lys851Asn)
c.2364G>C (p.Lys788Asn)
n.1493G>C
c.2325G>C (p.Lys775Asn)
c.2538G>C (p.Lys846Asn)
c.1137G>C (p.Lys379Asn)
c.1119G>C (p.Lys373Asn)
n.2658G>C
 dbSNP
22g.19972807C>TCA513688585ARVCFc.2571G>A (p.Lys857=)
c.2382G>A (p.Lys794=)
c.2553G>A (p.Lys851=)
c.2364G>A (p.Lys788=)
n.1493G>A
c.2325G>A (p.Lys775=)
c.2538G>A (p.Lys846=)
c.1137G>A (p.Lys379=)
c.1119G>A (p.Lys373=)
n.2658G>A
22g.19972808T>ACA410694413ARVCFc.2570A>T (p.Lys857Met)
c.2381A>T (p.Lys794Met)
c.2552A>T (p.Lys851Met)
c.2363A>T (p.Lys788Met)
n.1492A>T
c.2324A>T (p.Lys775Met)
c.2537A>T (p.Lys846Met)
c.1136A>T (p.Lys379Met)
c.1118A>T (p.Lys373Met)
n.2657A>T
22g.19972808T>CCA410694415ARVCFc.2570A>G (p.Lys857Arg)
c.2381A>G (p.Lys794Arg)
c.2552A>G (p.Lys851Arg)
c.2363A>G (p.Lys788Arg)
n.1492A>G
c.2324A>G (p.Lys775Arg)
c.2537A>G (p.Lys846Arg)
c.1136A>G (p.Lys379Arg)
c.1118A>G (p.Lys373Arg)
n.2657A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972808T>GCA410694417ARVCFc.2570A>C (p.Lys857Thr)
c.2381A>C (p.Lys794Thr)
c.2552A>C (p.Lys851Thr)
c.2363A>C (p.Lys788Thr)
n.1492A>C
c.2324A>C (p.Lys775Thr)
c.2537A>C (p.Lys846Thr)
c.1136A>C (p.Lys379Thr)
c.1118A>C (p.Lys373Thr)
n.2657A>C
22g.19972808T=CA2396130807ARVCFc.2570A= (p.Lys857=)
c.2381A= (p.Lys794=)
c.2552A= (p.Lys851=)
c.2363A= (p.Lys788=)
n.1492A=
c.2324A= (p.Lys775=)
c.2537A= (p.Lys846=)
c.1136A= (p.Lys379=)
c.1118A= (p.Lys373=)
n.2657A=
22g.19972809T>ACA410694422ARVCFc.2569A>T (p.Lys857Ter)
c.2380A>T (p.Lys794Ter)
c.2551A>T (p.Lys851Ter)
c.2362A>T (p.Lys788Ter)
n.1491A>T
c.2323A>T (p.Lys775Ter)
c.2536A>T (p.Lys846Ter)
c.1135A>T (p.Lys379Ter)
c.1117A>T (p.Lys373Ter)
n.2656A>T
22g.19972809T>CCA410694419ARVCFc.2569A>G (p.Lys857Glu)
c.2380A>G (p.Lys794Glu)
c.2551A>G (p.Lys851Glu)
c.2362A>G (p.Lys788Glu)
n.1491A>G
c.2323A>G (p.Lys775Glu)
c.2536A>G (p.Lys846Glu)
c.1135A>G (p.Lys379Glu)
c.1117A>G (p.Lys373Glu)
n.2656A>G
 dbSNP gnomAD v3 gnomAD v4
22g.19972809T>GCA410694420ARVCFc.2569A>C (p.Lys857Gln)
c.2380A>C (p.Lys794Gln)
c.2551A>C (p.Lys851Gln)
c.2362A>C (p.Lys788Gln)
n.1491A>C
c.2323A>C (p.Lys775Gln)
c.2536A>C (p.Lys846Gln)
c.1135A>C (p.Lys379Gln)
c.1117A>C (p.Lys373Gln)
n.2656A>C
22g.19972809T=CA2396130808ARVCFc.2569A= (p.Lys857=)
c.2380A= (p.Lys794=)
c.2551A= (p.Lys851=)
c.2362A= (p.Lys788=)
n.1491A=
c.2323A= (p.Lys775=)
c.2536A= (p.Lys846=)
c.1135A= (p.Lys379=)
c.1117A= (p.Lys373=)
n.2656A=
22g.19972810G>ACA513688586ARVCFc.2568C>T (p.Ala856=)
c.2379C>T (p.Ala793=)
c.2550C>T (p.Ala850=)
c.2361C>T (p.Ala787=)
n.1490C>T
c.2322C>T (p.Ala774=)
c.2535C>T (p.Ala845=)
c.1134C>T (p.Ala378=)
c.1116C>T (p.Ala372=)
n.2655C>T
 gnomAD v4
22g.19972810G>CCA513688587ARVCFc.2568C>G (p.Ala856=)
c.2379C>G (p.Ala793=)
c.2550C>G (p.Ala850=)
c.2361C>G (p.Ala787=)
n.1490C>G
c.2322C>G (p.Ala774=)
c.2535C>G (p.Ala845=)
c.1134C>G (p.Ala378=)
c.1116C>G (p.Ala372=)
n.2655C>G
22g.19972810G>TCA513688588ARVCFc.2568C>A (p.Ala856=)
c.2379C>A (p.Ala793=)
c.2550C>A (p.Ala850=)
c.2361C>A (p.Ala787=)
n.1490C>A
c.2322C>A (p.Ala774=)
c.2535C>A (p.Ala845=)
c.1134C>A (p.Ala378=)
c.1116C>A (p.Ala372=)
n.2655C>A
22g.19972811delCA2655342411ARVCFc.2568del (p.Lys857ArgfsTer7)
c.2379del (p.Lys794ArgfsTer7)
c.2550del (p.Lys851ArgfsTer7)
c.2361del (p.Lys788ArgfsTer7)
n.1490del
c.2322del (p.Lys775ArgfsTer7)
c.2535del (p.Lys846ArgfsTer7)
c.1134del (p.Lys379ArgfsTer7)
c.1116del (p.Lys373ArgfsTer7)
n.2655del
 gnomAD v4
22g.19972811G>ACA410694424ARVCFc.2567C>T (p.Ala856Val)
c.2378C>T (p.Ala793Val)
c.2549C>T (p.Ala850Val)
c.2360C>T (p.Ala787Val)
n.1489C>T
c.2321C>T (p.Ala774Val)
c.2534C>T (p.Ala845Val)
c.1133C>T (p.Ala378Val)
c.1115C>T (p.Ala372Val)
n.2654C>T
22g.19972811G>CCA410694426ARVCFc.2567C>G (p.Ala856Gly)
c.2378C>G (p.Ala793Gly)
c.2549C>G (p.Ala850Gly)
c.2360C>G (p.Ala787Gly)
n.1489C>G
c.2321C>G (p.Ala774Gly)
c.2534C>G (p.Ala845Gly)
c.1133C>G (p.Ala378Gly)
c.1115C>G (p.Ala372Gly)
n.2654C>G
22g.19972811G>TCA410694427ARVCFc.2567C>A (p.Ala856Asp)
c.2378C>A (p.Ala793Asp)
c.2549C>A (p.Ala850Asp)
c.2360C>A (p.Ala787Asp)
n.1489C>A
c.2321C>A (p.Ala774Asp)
c.2534C>A (p.Ala845Asp)
c.1133C>A (p.Ala378Asp)
c.1115C>A (p.Ala372Asp)
n.2654C>A
22g.19972812C>ACA410694429ARVCFc.2566G>T (p.Ala856Ser)
c.2377G>T (p.Ala793Ser)
c.2548G>T (p.Ala850Ser)
c.2359G>T (p.Ala787Ser)
n.1488G>T
c.2320G>T (p.Ala774Ser)
c.2533G>T (p.Ala845Ser)
c.1132G>T (p.Ala378Ser)
c.1114G>T (p.Ala372Ser)
n.2653G>T
22g.19972812C>GCA410694430ARVCFc.2566G>C (p.Ala856Pro)
c.2377G>C (p.Ala793Pro)
c.2548G>C (p.Ala850Pro)
c.2359G>C (p.Ala787Pro)
n.1488G>C
c.2320G>C (p.Ala774Pro)
c.2533G>C (p.Ala845Pro)
c.1132G>C (p.Ala378Pro)
c.1114G>C (p.Ala372Pro)
n.2653G>C
22g.19972812C>TCA410694432ARVCFc.2566G>A (p.Ala856Thr)
c.2377G>A (p.Ala793Thr)
c.2548G>A (p.Ala850Thr)
c.2359G>A (p.Ala787Thr)
n.1488G>A
c.2320G>A (p.Ala774Thr)
c.2533G>A (p.Ala845Thr)
c.1132G>A (p.Ala378Thr)
c.1114G>A (p.Ala372Thr)
n.2653G>A
22g.19972813A=CA2396130809ARVCFc.2565T= (p.Thr855=)
c.2376T= (p.Thr792=)
c.2547T= (p.Thr849=)
c.2358T= (p.Thr786=)
n.1487T=
c.2319T= (p.Thr773=)
c.2532T= (p.Thr844=)
c.1131T= (p.Thr377=)
c.1113T= (p.Thr371=)
n.2652T=
22g.19972813A>CCA513688589ARVCFc.2565T>G (p.Thr855=)
c.2376T>G (p.Thr792=)
c.2547T>G (p.Thr849=)
c.2358T>G (p.Thr786=)
n.1487T>G
c.2319T>G (p.Thr773=)
c.2532T>G (p.Thr844=)
c.1131T>G (p.Thr377=)
c.1113T>G (p.Thr371=)
n.2652T>G
22g.19972813A>GCA10105024ARVCFc.2565T>C (p.Thr855=)
c.2376T>C (p.Thr792=)
c.2547T>C (p.Thr849=)
c.2358T>C (p.Thr786=)
n.1487T>C
c.2319T>C (p.Thr773=)
c.2532T>C (p.Thr844=)
c.1131T>C (p.Thr377=)
c.1113T>C (p.Thr371=)
n.2652T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972813A>TCA513688590ARVCFc.2565T>A (p.Thr855=)
c.2376T>A (p.Thr792=)
c.2547T>A (p.Thr849=)
c.2358T>A (p.Thr786=)
n.1487T>A
c.2319T>A (p.Thr773=)
c.2532T>A (p.Thr844=)
c.1131T>A (p.Thr377=)
c.1113T>A (p.Thr371=)
n.2652T>A
22g.19972814G>ACA410694434ARVCFc.2564C>T (p.Thr855Ile)
c.2375C>T (p.Thr792Ile)
c.2546C>T (p.Thr849Ile)
c.2357C>T (p.Thr786Ile)
n.1486C>T
c.2318C>T (p.Thr773Ile)
c.2531C>T (p.Thr844Ile)
c.1130C>T (p.Thr377Ile)
c.1112C>T (p.Thr371Ile)
n.2651C>T
 gnomAD v4
22g.19972814G>CCA410694436ARVCFc.2564C>G (p.Thr855Ser)
c.2375C>G (p.Thr792Ser)
c.2546C>G (p.Thr849Ser)
c.2357C>G (p.Thr786Ser)
n.1486C>G
c.2318C>G (p.Thr773Ser)
c.2531C>G (p.Thr844Ser)
c.1130C>G (p.Thr377Ser)
c.1112C>G (p.Thr371Ser)
n.2651C>G
22g.19972814G>TCA410694438ARVCFc.2564C>A (p.Thr855Asn)
c.2375C>A (p.Thr792Asn)
c.2546C>A (p.Thr849Asn)
c.2357C>A (p.Thr786Asn)
n.1486C>A
c.2318C>A (p.Thr773Asn)
c.2531C>A (p.Thr844Asn)
c.1130C>A (p.Thr377Asn)
c.1112C>A (p.Thr371Asn)
n.2651C>A
22g.19972815T>ACA410694440ARVCFc.2563A>T (p.Thr855Ser)
c.2374A>T (p.Thr792Ser)
c.2545A>T (p.Thr849Ser)
c.2356A>T (p.Thr786Ser)
n.1485A>T
c.2317A>T (p.Thr773Ser)
c.2530A>T (p.Thr844Ser)
c.1129A>T (p.Thr377Ser)
c.1111A>T (p.Thr371Ser)
n.2650A>T
22g.19972815T>CCA10105025ARVCFc.2563A>G (p.Thr855Ala)
c.2374A>G (p.Thr792Ala)
c.2545A>G (p.Thr849Ala)
c.2356A>G (p.Thr786Ala)
n.1485A>G
c.2317A>G (p.Thr773Ala)
c.2530A>G (p.Thr844Ala)
c.1129A>G (p.Thr377Ala)
c.1111A>G (p.Thr371Ala)
n.2650A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972815T>GCA410694441ARVCFc.2563A>C (p.Thr855Pro)
c.2374A>C (p.Thr792Pro)
c.2545A>C (p.Thr849Pro)
c.2356A>C (p.Thr786Pro)
n.1485A>C
c.2317A>C (p.Thr773Pro)
c.2530A>C (p.Thr844Pro)
c.1129A>C (p.Thr377Pro)
c.1111A>C (p.Thr371Pro)
n.2650A>C
22g.19972815T=CA2396130810ARVCFc.2563A= (p.Thr855=)
c.2374A= (p.Thr792=)
c.2545A= (p.Thr849=)
c.2356A= (p.Thr786=)
n.1485A=
c.2317A= (p.Thr773=)
c.2530A= (p.Thr844=)
c.1129A= (p.Thr377=)
c.1111A= (p.Thr371=)
n.2650A=
22g.19972816A>CCA513688591ARVCFc.2562T>G (p.Ala854=)
c.2373T>G (p.Ala791=)
c.2544T>G (p.Ala848=)
c.2355T>G (p.Ala785=)
n.1484T>G
c.2316T>G (p.Ala772=)
c.2529T>G (p.Ala843=)
c.1128T>G (p.Ala376=)
c.1110T>G (p.Ala370=)
n.2649T>G
22g.19972816A>GCA513688592ARVCFc.2562T>C (p.Ala854=)
c.2373T>C (p.Ala791=)
c.2544T>C (p.Ala848=)
c.2355T>C (p.Ala785=)
n.1484T>C
c.2316T>C (p.Ala772=)
c.2529T>C (p.Ala843=)
c.1128T>C (p.Ala376=)
c.1110T>C (p.Ala370=)
n.2649T>C
 gnomAD v4
22g.19972816A>TCA513688593ARVCFc.2562T>A (p.Ala854=)
c.2373T>A (p.Ala791=)
c.2544T>A (p.Ala848=)
c.2355T>A (p.Ala785=)
n.1484T>A
c.2316T>A (p.Ala772=)
c.2529T>A (p.Ala843=)
c.1128T>A (p.Ala376=)
c.1110T>A (p.Ala370=)
n.2649T>A
22g.19972817G>ACA10105026ARVCFc.2561C>T (p.Ala854Val)
c.2372C>T (p.Ala791Val)
c.2543C>T (p.Ala848Val)
c.2354C>T (p.Ala785Val)
n.1483C>T
c.2315C>T (p.Ala772Val)
c.2528C>T (p.Ala843Val)
c.1127C>T (p.Ala376Val)
c.1109C>T (p.Ala370Val)
n.2648C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19972817G>CCA410694445ARVCFc.2561C>G (p.Ala854Gly)
c.2372C>G (p.Ala791Gly)
c.2543C>G (p.Ala848Gly)
c.2354C>G (p.Ala785Gly)
n.1483C>G
c.2315C>G (p.Ala772Gly)
c.2528C>G (p.Ala843Gly)
c.1127C>G (p.Ala376Gly)
c.1109C>G (p.Ala370Gly)
n.2648C>G
22g.19972817G=CA2396130811ARVCFc.2561C= (p.Ala854=)
c.2372C= (p.Ala791=)
c.2543C= (p.Ala848=)
c.2354C= (p.Ala785=)
n.1483C=
c.2315C= (p.Ala772=)
c.2528C= (p.Ala843=)
c.1127C= (p.Ala376=)
c.1109C= (p.Ala370=)
n.2648C=
22g.19972817G>TCA410694443ARVCFc.2561C>A (p.Ala854Asp)
c.2372C>A (p.Ala791Asp)
c.2543C>A (p.Ala848Asp)
c.2354C>A (p.Ala785Asp)
n.1483C>A
c.2315C>A (p.Ala772Asp)
c.2528C>A (p.Ala843Asp)
c.1127C>A (p.Ala376Asp)
c.1109C>A (p.Ala370Asp)
n.2648C>A
 dbSNP gnomAD v2 gnomAD v4
22g.19972818delCA2655342419ARVCFc.2560del (p.Ala854LeufsTer10)
c.2371del (p.Ala791LeufsTer10)
c.2542del (p.Ala848LeufsTer10)
c.2353del (p.Ala785LeufsTer10)
n.1482del
c.2314del (p.Ala772LeufsTer10)
c.2527del (p.Ala843LeufsTer10)
c.1126del (p.Ala376LeufsTer10)
c.1108del (p.Ala370LeufsTer10)
n.2647del
 gnomAD v4
22g.19972818C>ACA410694447ARVCFc.2560G>T (p.Ala854Ser)
c.2371G>T (p.Ala791Ser)
c.2542G>T (p.Ala848Ser)
c.2353G>T (p.Ala785Ser)
n.1482G>T
c.2314G>T (p.Ala772Ser)
c.2527G>T (p.Ala843Ser)
c.1126G>T (p.Ala376Ser)
c.1108G>T (p.Ala370Ser)
n.2647G>T
22g.19972818C>GCA410694448ARVCFc.2560G>C (p.Ala854Pro)
c.2371G>C (p.Ala791Pro)
c.2542G>C (p.Ala848Pro)
c.2353G>C (p.Ala785Pro)
n.1482G>C
c.2314G>C (p.Ala772Pro)
c.2527G>C (p.Ala843Pro)
c.1126G>C (p.Ala376Pro)
c.1108G>C (p.Ala370Pro)
n.2647G>C
 gnomAD v4
22g.19972818C>TCA410694450ARVCFc.2560G>A (p.Ala854Thr)
c.2371G>A (p.Ala791Thr)
c.2542G>A (p.Ala848Thr)
c.2353G>A (p.Ala785Thr)
n.1482G>A
c.2314G>A (p.Ala772Thr)
c.2527G>A (p.Ala843Thr)
c.1126G>A (p.Ala376Thr)
c.1108G>A (p.Ala370Thr)
n.2647G>A
 gnomAD v4
22g.19972819A=CA2396130812ARVCFc.2559T= (p.Ala853=)
c.2370T= (p.Ala790=)
c.2541T= (p.Ala847=)
c.2352T= (p.Ala784=)
n.1481T=
c.2313T= (p.Ala771=)
c.2526T= (p.Ala842=)
c.1125T= (p.Ala375=)
c.1107T= (p.Ala369=)
n.2646T=
22g.19972819A>CCA513688595ARVCFc.2559T>G (p.Ala853=)
c.2370T>G (p.Ala790=)
c.2541T>G (p.Ala847=)
c.2352T>G (p.Ala784=)
n.1481T>G
c.2313T>G (p.Ala771=)
c.2526T>G (p.Ala842=)
c.1125T>G (p.Ala375=)
c.1107T>G (p.Ala369=)
n.2646T>G
22g.19972819A>GCA322126194ARVCFc.2559T>C (p.Ala853=)
c.2370T>C (p.Ala790=)
c.2541T>C (p.Ala847=)
c.2352T>C (p.Ala784=)
n.1481T>C
c.2313T>C (p.Ala771=)
c.2526T>C (p.Ala842=)
c.1125T>C (p.Ala375=)
c.1107T>C (p.Ala369=)
n.2646T>C
 dbSNP
22g.19972819A>TCA513688594ARVCFc.2559T>A (p.Ala853=)
c.2370T>A (p.Ala790=)
c.2541T>A (p.Ala847=)
c.2352T>A (p.Ala784=)
n.1481T>A
c.2313T>A (p.Ala771=)
c.2526T>A (p.Ala842=)
c.1125T>A (p.Ala375=)
c.1107T>A (p.Ala369=)
n.2646T>A
22g.19972820G>ACA410694451ARVCFc.2558C>T (p.Ala853Val)
c.2369C>T (p.Ala790Val)
c.2540C>T (p.Ala847Val)
c.2351C>T (p.Ala784Val)
n.1480C>T
c.2312C>T (p.Ala771Val)
c.2525C>T (p.Ala842Val)
c.1124C>T (p.Ala375Val)
c.1106C>T (p.Ala369Val)
n.2645C>T
 gnomAD v4
22g.19972820G>CCA410694453ARVCFc.2558C>G (p.Ala853Gly)
c.2369C>G (p.Ala790Gly)
c.2540C>G (p.Ala847Gly)
c.2351C>G (p.Ala784Gly)
n.1480C>G
c.2312C>G (p.Ala771Gly)
c.2525C>G (p.Ala842Gly)
c.1124C>G (p.Ala375Gly)
c.1106C>G (p.Ala369Gly)
n.2645C>G
 gnomAD v4
22g.19972820G>TCA410694455ARVCFc.2558C>A (p.Ala853Asp)
c.2369C>A (p.Ala790Asp)
c.2540C>A (p.Ala847Asp)
c.2351C>A (p.Ala784Asp)
n.1480C>A
c.2312C>A (p.Ala771Asp)
c.2525C>A (p.Ala842Asp)
c.1124C>A (p.Ala375Asp)
c.1106C>A (p.Ala369Asp)
n.2645C>A
22g.19972821delCA645613381ARVCFc.2557del (p.Ala853LeufsTer11)
c.2368del (p.Ala790LeufsTer11)
c.2539del (p.Ala847LeufsTer11)
c.2350del (p.Ala784LeufsTer11)
n.1479del
c.2311del (p.Ala771LeufsTer11)
c.2524del (p.Ala842LeufsTer11)
c.1123del (p.Ala375LeufsTer11)
c.1105del (p.Ala369LeufsTer11)
n.2644del
 COSMIC
22g.19972821C>ACA410694456ARVCFc.2557G>T (p.Ala853Ser)
c.2368G>T (p.Ala790Ser)
c.2539G>T (p.Ala847Ser)
c.2350G>T (p.Ala784Ser)
n.1479G>T
c.2311G>T (p.Ala771Ser)
c.2524G>T (p.Ala842Ser)
c.1123G>T (p.Ala375Ser)
c.1105G>T (p.Ala369Ser)
n.2644G>T
22g.19972821C>GCA410694458ARVCFc.2557G>C (p.Ala853Pro)
c.2368G>C (p.Ala790Pro)
c.2539G>C (p.Ala847Pro)
c.2350G>C (p.Ala784Pro)
n.1479G>C
c.2311G>C (p.Ala771Pro)
c.2524G>C (p.Ala842Pro)
c.1123G>C (p.Ala375Pro)
c.1105G>C (p.Ala369Pro)
n.2644G>C
22g.19972821C>TCA410694460ARVCFc.2557G>A (p.Ala853Thr)
c.2368G>A (p.Ala790Thr)
c.2539G>A (p.Ala847Thr)
c.2350G>A (p.Ala784Thr)
n.1479G>A
c.2311G>A (p.Ala771Thr)
c.2524G>A (p.Ala842Thr)
c.1123G>A (p.Ala375Thr)
c.1105G>A (p.Ala369Thr)
n.2644G>A
22g.19972822A=CA2396130813ARVCFc.2556T= (p.Ala852=)
c.2367T= (p.Ala789=)
c.2538T= (p.Ala846=)
c.2349T= (p.Ala783=)
n.1478T=
c.2310T= (p.Ala770=)
c.2523T= (p.Ala841=)
c.1122T= (p.Ala374=)
c.1104T= (p.Ala368=)
n.2643T=
22g.19972822A>CCA513688596ARVCFc.2556T>G (p.Ala852=)
c.2367T>G (p.Ala789=)
c.2538T>G (p.Ala846=)
c.2349T>G (p.Ala783=)
n.1478T>G
c.2310T>G (p.Ala770=)
c.2523T>G (p.Ala841=)
c.1122T>G (p.Ala374=)
c.1104T>G (p.Ala368=)
n.2643T>G
 dbSNP gnomAD v2 gnomAD v4
22g.19972822A>GCA10105027ARVCFc.2556T>C (p.Ala852=)
c.2367T>C (p.Ala789=)
c.2538T>C (p.Ala846=)
c.2349T>C (p.Ala783=)
n.1478T>C
c.2310T>C (p.Ala770=)
c.2523T>C (p.Ala841=)
c.1122T>C (p.Ala374=)
c.1104T>C (p.Ala368=)
n.2643T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19972822A>TCA513688597ARVCFc.2556T>A (p.Ala852=)
c.2367T>A (p.Ala789=)
c.2538T>A (p.Ala846=)
c.2349T>A (p.Ala783=)
n.1478T>A
c.2310T>A (p.Ala770=)
c.2523T>A (p.Ala841=)
c.1122T>A (p.Ala374=)
c.1104T>A (p.Ala368=)
n.2643T>A
22g.19972823G>ACA410694462ARVCFc.2555C>T (p.Ala852Val)
c.2366C>T (p.Ala789Val)
c.2537C>T (p.Ala846Val)
c.2348C>T (p.Ala783Val)
n.1477C>T
c.2309C>T (p.Ala770Val)
c.2522C>T (p.Ala841Val)
c.1121C>T (p.Ala374Val)
c.1103C>T (p.Ala368Val)
n.2642C>T
22g.19972823G>CCA322126195ARVCFc.2555C>G (p.Ala852Gly)
c.2366C>G (p.Ala789Gly)
c.2537C>G (p.Ala846Gly)
c.2348C>G (p.Ala783Gly)
n.1477C>G
c.2309C>G (p.Ala770Gly)
c.2522C>G (p.Ala841Gly)
c.1121C>G (p.Ala374Gly)
c.1103C>G (p.Ala368Gly)
n.2642C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972823G=CA2396130814ARVCFc.2555C= (p.Ala852=)
c.2366C= (p.Ala789=)
c.2537C= (p.Ala846=)
c.2348C= (p.Ala783=)
n.1477C=
c.2309C= (p.Ala770=)
c.2522C= (p.Ala841=)
c.1121C= (p.Ala374=)
c.1103C= (p.Ala368=)
n.2642C=
22g.19972823G>TCA410694464ARVCFc.2555C>A (p.Ala852Asp)
c.2366C>A (p.Ala789Asp)
c.2537C>A (p.Ala846Asp)
c.2348C>A (p.Ala783Asp)
n.1477C>A
c.2309C>A (p.Ala770Asp)
c.2522C>A (p.Ala841Asp)
c.1121C>A (p.Ala374Asp)
c.1103C>A (p.Ala368Asp)
n.2642C>A
22g.19972824C>ACA410694469ARVCFc.2554G>T (p.Ala852Ser)
c.2365G>T (p.Ala789Ser)
c.2536G>T (p.Ala846Ser)
c.2347G>T (p.Ala783Ser)
n.1476G>T
c.2308G>T (p.Ala770Ser)
c.2521G>T (p.Ala841Ser)
c.1120G>T (p.Ala374Ser)
c.1102G>T (p.Ala368Ser)
n.2641G>T
22g.19972824C>GCA410694465ARVCFc.2554G>C (p.Ala852Pro)
c.2365G>C (p.Ala789Pro)
c.2536G>C (p.Ala846Pro)
c.2347G>C (p.Ala783Pro)
n.1476G>C
c.2308G>C (p.Ala770Pro)
c.2521G>C (p.Ala841Pro)
c.1120G>C (p.Ala374Pro)
c.1102G>C (p.Ala368Pro)
n.2641G>C
22g.19972824C>TCA410694467ARVCFc.2554G>A (p.Ala852Thr)
c.2365G>A (p.Ala789Thr)
c.2536G>A (p.Ala846Thr)
c.2347G>A (p.Ala783Thr)
n.1476G>A
c.2308G>A (p.Ala770Thr)
c.2521G>A (p.Ala841Thr)
c.1120G>A (p.Ala374Thr)
c.1102G>A (p.Ala368Thr)
n.2641G>A
22g.19972825T>ACA513688598ARVCFc.2553A>T (p.Ser851=)
c.2364A>T (p.Ser788=)
c.2535A>T (p.Ser845=)
c.2346A>T (p.Ser782=)
n.1475A>T
c.2307A>T (p.Ser769=)
c.2520A>T (p.Ser840=)
c.1119A>T (p.Ser373=)
c.1101A>T (p.Ser367=)
n.2640A>T
22g.19972825T>CCA513688599ARVCFc.2553A>G (p.Ser851=)
c.2364A>G (p.Ser788=)
c.2535A>G (p.Ser845=)
c.2346A>G (p.Ser782=)
n.1475A>G
c.2307A>G (p.Ser769=)
c.2520A>G (p.Ser840=)
c.1119A>G (p.Ser373=)
c.1101A>G (p.Ser367=)
n.2640A>G
22g.19972825T>GCA513688600ARVCFc.2553A>C (p.Ser851=)
c.2364A>C (p.Ser788=)
c.2535A>C (p.Ser845=)
c.2346A>C (p.Ser782=)
n.1475A>C
c.2307A>C (p.Ser769=)
c.2520A>C (p.Ser840=)
c.1119A>C (p.Ser373=)
c.1101A>C (p.Ser367=)
n.2640A>C
22g.19972826G>ACA410694470ARVCFc.2552C>T (p.Ser851Leu)
c.2363C>T (p.Ser788Leu)
c.2534C>T (p.Ser845Leu)
c.2345C>T (p.Ser782Leu)
n.1474C>T
c.2306C>T (p.Ser769Leu)
c.2519C>T (p.Ser840Leu)
c.1118C>T (p.Ser373Leu)
c.1100C>T (p.Ser367Leu)
n.2639C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19972826G>CCA410694472ARVCFc.2552C>G (p.Ser851Ter)
c.2363C>G (p.Ser788Ter)
c.2534C>G (p.Ser845Ter)
c.2345C>G (p.Ser782Ter)
n.1474C>G
c.2306C>G (p.Ser769Ter)
c.2519C>G (p.Ser840Ter)
c.1118C>G (p.Ser373Ter)
c.1100C>G (p.Ser367Ter)
n.2639C>G
22g.19972826G=CA2396130815ARVCFc.2552C= (p.Ser851=)
c.2363C= (p.Ser788=)
c.2534C= (p.Ser845=)
c.2345C= (p.Ser782=)
n.1474C=
c.2306C= (p.Ser769=)
c.2519C= (p.Ser840=)
c.1118C= (p.Ser373=)
c.1100C= (p.Ser367=)
n.2639C=
22g.19972826G>TCA410694473ARVCFc.2552C>A (p.Ser851Ter)
c.2363C>A (p.Ser788Ter)
c.2534C>A (p.Ser845Ter)
c.2345C>A (p.Ser782Ter)
n.1474C>A
c.2306C>A (p.Ser769Ter)
c.2519C>A (p.Ser840Ter)
c.1118C>A (p.Ser373Ter)
c.1100C>A (p.Ser367Ter)
n.2639C>A
 gnomAD v4
22g.19972827A>CCA410694475ARVCFc.2551T>G (p.Ser851Ala)
c.2362T>G (p.Ser788Ala)
c.2533T>G (p.Ser845Ala)
c.2344T>G (p.Ser782Ala)
n.1473T>G
c.2305T>G (p.Ser769Ala)
c.2518T>G (p.Ser840Ala)
c.1117T>G (p.Ser373Ala)
c.1099T>G (p.Ser367Ala)
n.2638T>G
22g.19972827A>GCA410694477ARVCFc.2551T>C (p.Ser851Pro)
c.2362T>C (p.Ser788Pro)
c.2533T>C (p.Ser845Pro)
c.2344T>C (p.Ser782Pro)
n.1473T>C
c.2305T>C (p.Ser769Pro)
c.2518T>C (p.Ser840Pro)
c.1117T>C (p.Ser373Pro)
c.1099T>C (p.Ser367Pro)
n.2638T>C
22g.19972827A>TCA410694478ARVCFc.2551T>A (p.Ser851Thr)
c.2362T>A (p.Ser788Thr)
c.2533T>A (p.Ser845Thr)
c.2344T>A (p.Ser782Thr)
n.1473T>A
c.2305T>A (p.Ser769Thr)
c.2518T>A (p.Ser840Thr)
c.1117T>A (p.Ser373Thr)
c.1099T>A (p.Ser367Thr)
n.2638T>A
22g.19972828C>ACA410694479ARVCFc.2551-1G>T (n.2551-1G>T)
c.2362-1G>T (n.2362-1G>T)
c.2533-1G>T (n.2533-1G>T)
c.2344-1G>T (n.2344-1G>T)
n.1473-1G>T
c.2305-1G>T (n.2305-1G>T)
c.2518-1G>T (n.2518-1G>T)
c.1117-1G>T (n.1117-1G>T)
c.1099-1G>T (n.1099-1G>T)
n.2638-1G>T
22g.19972828C=CA2396130816ARVCFc.2551-1G= (n.2551-1G=)
c.2362-1G= (n.2362-1G=)
c.2533-1G= (n.2533-1G=)
c.2344-1G= (n.2344-1G=)
n.1473-1G=
c.2305-1G= (n.2305-1G=)
c.2518-1G= (n.2518-1G=)
c.1117-1G= (n.1117-1G=)
c.1099-1G= (n.1099-1G=)
n.2638-1G=
22g.19972828C>GCA410694481ARVCFc.2551-1G>C (n.2551-1G>C)
c.2362-1G>C (n.2362-1G>C)
c.2533-1G>C (n.2533-1G>C)
c.2344-1G>C (n.2344-1G>C)
n.1473-1G>C
c.2305-1G>C (n.2305-1G>C)
c.2518-1G>C (n.2518-1G>C)
c.1117-1G>C (n.1117-1G>C)
c.1099-1G>C (n.1099-1G>C)
n.2638-1G>C
22g.19972828C>TCA322126196ARVCFc.2551-1G>A (n.2551-1G>A)
c.2362-1G>A (n.2362-1G>A)
c.2533-1G>A (n.2533-1G>A)
c.2344-1G>A (n.2344-1G>A)
n.1473-1G>A
c.2305-1G>A (n.2305-1G>A)
c.2518-1G>A (n.2518-1G>A)
c.1117-1G>A (n.1117-1G>A)
c.1099-1G>A (n.1099-1G>A)
n.2638-1G>A
 dbSNP gnomAD v4
22g.19972828_19972830delinsCTGCA2396130817ARVCFc.2551-3_2551-1delinsCAG (n.2551-3_2551-1delinsCAG)
c.2362-3_2362-1delinsCAG (n.2362-3_2362-1delinsCAG)
c.2533-3_2533-1delinsCAG (n.2533-3_2533-1delinsCAG)
c.2344-3_2344-1delinsCAG (n.2344-3_2344-1delinsCAG)
n.1473-3_1473-1delinsCAG
c.2305-3_2305-1delinsCAG (n.2305-3_2305-1delinsCAG)
c.2518-3_2518-1delinsCAG (n.2518-3_2518-1delinsCAG)
c.1117-3_1117-1delinsCAG (n.1117-3_1117-1delinsCAG)
c.1099-3_1099-1delinsCAG (n.1099-3_1099-1delinsCAG)
n.2638-3_2638-1delinsCAG
22g.19972829T>ACA410694484ARVCFc.2551-2A>T (n.2551-2A>T)
c.2362-2A>T (n.2362-2A>T)
c.2533-2A>T (n.2533-2A>T)
c.2344-2A>T (n.2344-2A>T)
n.1473-2A>T
c.2305-2A>T (n.2305-2A>T)
c.2518-2A>T (n.2518-2A>T)
c.1117-2A>T (n.1117-2A>T)
c.1099-2A>T (n.1099-2A>T)
n.2638-2A>T
22g.19972829T>CCA410694485ARVCFc.2551-2A>G (n.2551-2A>G)
c.2362-2A>G (n.2362-2A>G)
c.2533-2A>G (n.2533-2A>G)
c.2344-2A>G (n.2344-2A>G)
n.1473-2A>G
c.2305-2A>G (n.2305-2A>G)
c.2518-2A>G (n.2518-2A>G)
c.1117-2A>G (n.1117-2A>G)
c.1099-2A>G (n.1099-2A>G)
n.2638-2A>G
22g.19972829T>GCA410694486ARVCFc.2551-2A>C (n.2551-2A>C)
c.2362-2A>C (n.2362-2A>C)
c.2533-2A>C (n.2533-2A>C)
c.2344-2A>C (n.2344-2A>C)
n.1473-2A>C
c.2305-2A>C (n.2305-2A>C)
c.2518-2A>C (n.2518-2A>C)
c.1117-2A>C (n.1117-2A>C)
c.1099-2A>C (n.1099-2A>C)
n.2638-2A>C
22g.19972829_19972830delCA2396130818ARVCFc.2551-3_2551-2del (n.2551-3_2551-2del)
c.2362-3_2362-2del (n.2362-3_2362-2del)
c.2533-3_2533-2del (n.2533-3_2533-2del)
c.2344-3_2344-2del (n.2344-3_2344-2del)
n.1473-3_1473-2del
c.2305-3_2305-2del (n.2305-3_2305-2del)
c.2518-3_2518-2del (n.2518-3_2518-2del)
c.1117-3_1117-2del (n.1117-3_1117-2del)
c.1099-3_1099-2del (n.1099-3_1099-2del)
n.2638-3_2638-2del
 dbSNP gnomAD v4

Number of alleles fetched