Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132892323T>ACA446498910AFF4c.2478A>T (p.Thr826=)
c.1344A>T (p.Thr448=)
c.2391A>T (p.Thr797=)
5g.132892323T>CCA446498912AFF4c.2478A>G (p.Thr826=)
c.1344A>G (p.Thr448=)
c.2391A>G (p.Thr797=)
5g.132892323T>GCA446498911AFF4c.2478A>C (p.Thr826=)
c.1344A>C (p.Thr448=)
c.2391A>C (p.Thr797=)
5g.132892324G>ACA360929226AFF4c.2477C>T (p.Thr826Ile)
c.1343C>T (p.Thr448Ile)
c.2390C>T (p.Thr797Ile)
 gnomAD v4
5g.132892324G>CCA360929228AFF4c.2477C>G (p.Thr826Arg)
c.1343C>G (p.Thr448Arg)
c.2390C>G (p.Thr797Arg)
5g.132892324G>TCA360929229AFF4c.2477C>A (p.Thr826Lys)
c.1343C>A (p.Thr448Lys)
c.2390C>A (p.Thr797Lys)
5g.132892325T>ACA360929231AFF4c.2476A>T (p.Thr826Ser)
c.1342A>T (p.Thr448Ser)
c.2389A>T (p.Thr797Ser)
5g.132892325T>CCA3408916AFF4c.2476A>G (p.Thr826Ala)
c.1342A>G (p.Thr448Ala)
c.2389A>G (p.Thr797Ala)
 dbSNP ExAC gnomAD v4
5g.132892325T>GCA360929233AFF4c.2476A>C (p.Thr826Pro)
c.1342A>C (p.Thr448Pro)
c.2389A>C (p.Thr797Pro)
 dbSNP
5g.132892325T=CA1583372512AFF4c.2476A= (p.Thr826=)
c.1342A= (p.Thr448=)
c.2389A= (p.Thr797=)
5g.132892329dupCA645566246AFF4c.2476dup (p.Thr826AsnfsTer11)
c.1342dup (p.Thr448AsnfsTer11)
c.2389dup (p.Thr797AsnfsTer11)
 COSMIC
5g.132892326T>ACA360929235AFF4c.2475A>T (p.Lys825Asn)
c.1341A>T (p.Lys447Asn)
c.2388A>T (p.Lys796Asn)
5g.132892326T>CCA446498913AFF4c.2475A>G (p.Lys825=)
c.1341A>G (p.Lys447=)
c.2388A>G (p.Lys796=)
5g.132892326T>GCA360929236AFF4c.2475A>C (p.Lys825Asn)
c.1341A>C (p.Lys447Asn)
c.2388A>C (p.Lys796Asn)
5g.132892327T>ACA360929241AFF4c.2474A>T (p.Lys825Ile)
c.1340A>T (p.Lys447Ile)
c.2387A>T (p.Lys796Ile)
5g.132892327T>CCA360929242AFF4c.2474A>G (p.Lys825Arg)
c.1340A>G (p.Lys447Arg)
c.2387A>G (p.Lys796Arg)
5g.132892327T>GCA360929239AFF4c.2474A>C (p.Lys825Thr)
c.1340A>C (p.Lys447Thr)
c.2387A>C (p.Lys796Thr)
5g.132892328T>ACA360929250AFF4c.2473A>T (p.Lys825Ter)
c.1339A>T (p.Lys447Ter)
c.2386A>T (p.Lys796Ter)
5g.132892328T>CCA360929246AFF4c.2473A>G (p.Lys825Glu)
c.1339A>G (p.Lys447Glu)
c.2386A>G (p.Lys796Glu)
5g.132892328T>GCA360929248AFF4c.2473A>C (p.Lys825Gln)
c.1339A>C (p.Lys447Gln)
c.2386A>C (p.Lys796Gln)
5g.132892329T>ACA446498914AFF4c.2472A>T (p.Pro824=)
c.1338A>T (p.Pro446=)
c.2385A>T (p.Pro795=)
5g.132892329T>CCA446498915AFF4c.2472A>G (p.Pro824=)
c.1338A>G (p.Pro446=)
c.2385A>G (p.Pro795=)
5g.132892329T>GCA446498916AFF4c.2472A>C (p.Pro824=)
c.1338A>C (p.Pro446=)
c.2385A>C (p.Pro795=)
5g.132892330G>ACA360929252AFF4c.2471C>T (p.Pro824Leu)
c.1337C>T (p.Pro446Leu)
c.2384C>T (p.Pro795Leu)
5g.132892330G>CCA360929254AFF4c.2471C>G (p.Pro824Arg)
c.1337C>G (p.Pro446Arg)
c.2384C>G (p.Pro795Arg)
5g.132892330G>TCA360929255AFF4c.2471C>A (p.Pro824Gln)
c.1337C>A (p.Pro446Gln)
c.2384C>A (p.Pro795Gln)
 COSMIC
5g.132892331G>ACA3408917AFF4c.2470C>T (p.Pro824Ser)
c.1336C>T (p.Pro446Ser)
c.2383C>T (p.Pro795Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892331G>CCA360929258AFF4c.2470C>G (p.Pro824Ala)
c.1336C>G (p.Pro446Ala)
c.2383C>G (p.Pro795Ala)
 gnomAD v4
5g.132892331G=CA1583372513AFF4c.2470C= (p.Pro824=)
c.1336C= (p.Pro446=)
c.2383C= (p.Pro795=)
5g.132892331G>TCA360929259AFF4c.2470C>A (p.Pro824Thr)
c.1336C>A (p.Pro446Thr)
c.2383C>A (p.Pro795Thr)
 gnomAD v4
5g.132892332A>CCA360929261AFF4c.2469T>G (p.Asp823Glu)
c.1335T>G (p.Asp445Glu)
c.2382T>G (p.Asp794Glu)
5g.132892332A>GCA446498917AFF4c.2469T>C (p.Asp823=)
c.1335T>C (p.Asp445=)
c.2382T>C (p.Asp794=)
5g.132892332A>TCA360929262AFF4c.2469T>A (p.Asp823Glu)
c.1335T>A (p.Asp445Glu)
c.2382T>A (p.Asp794Glu)
5g.132892333T>ACA360929265AFF4c.2468A>T (p.Asp823Val)
c.1334A>T (p.Asp445Val)
c.2381A>T (p.Asp794Val)
5g.132892333T>CCA360929267AFF4c.2468A>G (p.Asp823Gly)
c.1334A>G (p.Asp445Gly)
c.2381A>G (p.Asp794Gly)
 gnomAD v4
5g.132892333T>GCA360929269AFF4c.2468A>C (p.Asp823Ala)
c.1334A>C (p.Asp445Ala)
c.2381A>C (p.Asp794Ala)
5g.132892334C>ACA360929271AFF4c.2467G>T (p.Asp823Tyr)
c.1333G>T (p.Asp445Tyr)
c.2380G>T (p.Asp794Tyr)
 gnomAD v4
5g.132892334C>GCA360929274AFF4c.2467G>C (p.Asp823His)
c.1333G>C (p.Asp445His)
c.2380G>C (p.Asp794His)
5g.132892334C>TCA360929272AFF4c.2467G>A (p.Asp823Asn)
c.1333G>A (p.Asp445Asn)
c.2380G>A (p.Asp794Asn)
5g.132892335T>ACA360929276AFF4c.2466A>T (p.Lys822Asn)
c.1332A>T (p.Lys444Asn)
c.2379A>T (p.Lys793Asn)
5g.132892335T>CCA446498918AFF4c.2466A>G (p.Lys822=)
c.1332A>G (p.Lys444=)
c.2379A>G (p.Lys793=)
5g.132892335T>GCA360929279AFF4c.2466A>C (p.Lys822Asn)
c.1332A>C (p.Lys444Asn)
c.2379A>C (p.Lys793Asn)
5g.132892336T>ACA360929281AFF4c.2465A>T (p.Lys822Ile)
c.1331A>T (p.Lys444Ile)
c.2378A>T (p.Lys793Ile)
5g.132892336T>CCA360929283AFF4c.2465A>G (p.Lys822Arg)
c.1331A>G (p.Lys444Arg)
c.2378A>G (p.Lys793Arg)
5g.132892336T>GCA360929288AFF4c.2465A>C (p.Lys822Thr)
c.1331A>C (p.Lys444Thr)
c.2378A>C (p.Lys793Thr)
5g.132892337T>ACA360929291AFF4c.2464A>T (p.Lys822Ter)
c.1330A>T (p.Lys444Ter)
c.2377A>T (p.Lys793Ter)
 COSMIC
5g.132892337T>CCA360929292AFF4c.2464A>G (p.Lys822Glu)
c.1330A>G (p.Lys444Glu)
c.2377A>G (p.Lys793Glu)
 gnomAD v4
5g.132892337T>GCA360929295AFF4c.2464A>C (p.Lys822Gln)
c.1330A>C (p.Lys444Gln)
c.2377A>C (p.Lys793Gln)
5g.132892338T>ACA446498768AFF4c.2463A>T (p.Ser821=)
c.1329A>T (p.Ser443=)
c.2376A>T (p.Ser792=)
5g.132892338T>CCA446498769AFF4c.2463A>G (p.Ser821=)
c.1329A>G (p.Ser443=)
c.2376A>G (p.Ser792=)
5g.132892338T>GCA446498770AFF4c.2463A>C (p.Ser821=)
c.1329A>C (p.Ser443=)
c.2376A>C (p.Ser792=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892338T=CA1583372514AFF4c.2463A= (p.Ser821=)
c.1329A= (p.Ser443=)
c.2376A= (p.Ser792=)
5g.132892339G>ACA360929297AFF4c.2462C>T (p.Ser821Leu)
c.1328C>T (p.Ser443Leu)
c.2375C>T (p.Ser792Leu)
5g.132892339G>CCA360929298AFF4c.2462C>G (p.Ser821Ter)
c.1328C>G (p.Ser443Ter)
c.2375C>G (p.Ser792Ter)
5g.132892339G>TCA360929304AFF4c.2462C>A (p.Ser821Ter)
c.1328C>A (p.Ser443Ter)
c.2375C>A (p.Ser792Ter)
5g.132892340A=CA1583372515AFF4c.2461T= (p.Ser821=)
c.1327T= (p.Ser443=)
c.2374T= (p.Ser792=)
5g.132892340A>CCA360929308AFF4c.2461T>G (p.Ser821Ala)
c.1327T>G (p.Ser443Ala)
c.2374T>G (p.Ser792Ala)
5g.132892340A>GCA3408918AFF4c.2461T>C (p.Ser821Pro)
c.1327T>C (p.Ser443Pro)
c.2374T>C (p.Ser792Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892340A>TCA360929306AFF4c.2461T>A (p.Ser821Thr)
c.1327T>A (p.Ser443Thr)
c.2374T>A (p.Ser792Thr)
5g.132892341A=CA1583372516AFF4c.2460T= (p.Pro820=)
c.1326T= (p.Pro442=)
c.2373T= (p.Pro791=)
5g.132892341A>CCA446498771AFF4c.2460T>G (p.Pro820=)
c.1326T>G (p.Pro442=)
c.2373T>G (p.Pro791=)
5g.132892341A>GCA446498772AFF4c.2460T>C (p.Pro820=)
c.1326T>C (p.Pro442=)
c.2373T>C (p.Pro791=)
 dbSNP
5g.132892341A>TCA446498773AFF4c.2460T>A (p.Pro820=)
c.1326T>A (p.Pro442=)
c.2373T>A (p.Pro791=)
5g.132892342G>ACA360929311AFF4c.2459C>T (p.Pro820Leu)
c.1325C>T (p.Pro442Leu)
c.2372C>T (p.Pro791Leu)
5g.132892342G>CCA360929313AFF4c.2459C>G (p.Pro820Arg)
c.1325C>G (p.Pro442Arg)
c.2372C>G (p.Pro791Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.132892342G=CA1583372517AFF4c.2459C= (p.Pro820=)
c.1325C= (p.Pro442=)
c.2372C= (p.Pro791=)
5g.132892342G>TCA360929315AFF4c.2459C>A (p.Pro820His)
c.1325C>A (p.Pro442His)
c.2372C>A (p.Pro791His)
5g.132892343G>ACA360929317AFF4c.2458C>T (p.Pro820Ser)
c.1324C>T (p.Pro442Ser)
c.2371C>T (p.Pro791Ser)
 dbSNP gnomAD v4
5g.132892343G>CCA360929318AFF4c.2458C>G (p.Pro820Ala)
c.1324C>G (p.Pro442Ala)
c.2371C>G (p.Pro791Ala)
5g.132892343G=CA1583372518AFF4c.2458C= (p.Pro820=)
c.1324C= (p.Pro442=)
c.2371C= (p.Pro791=)
5g.132892343G>TCA360929319AFF4c.2458C>A (p.Pro820Thr)
c.1324C>A (p.Pro442Thr)
c.2371C>A (p.Pro791Thr)
 COSMIC
5g.132892344A>CCA446498774AFF4c.2457T>G (p.Val819=)
c.1323T>G (p.Val441=)
c.2370T>G (p.Val790=)
5g.132892344A>GCA446498775AFF4c.2457T>C (p.Val819=)
c.1323T>C (p.Val441=)
c.2370T>C (p.Val790=)
5g.132892344A>TCA446498776AFF4c.2457T>A (p.Val819=)
c.1323T>A (p.Val441=)
c.2370T>A (p.Val790=)
5g.132892345A>CCA360929322AFF4c.2456T>G (p.Val819Gly)
c.1322T>G (p.Val441Gly)
c.2369T>G (p.Val790Gly)
5g.132892345A>GCA360929324AFF4c.2456T>C (p.Val819Ala)
c.1322T>C (p.Val441Ala)
c.2369T>C (p.Val790Ala)
5g.132892345A>TCA360929325AFF4c.2456T>A (p.Val819Asp)
c.1322T>A (p.Val441Asp)
c.2369T>A (p.Val790Asp)
5g.132892346C>ACA3408919AFF4c.2455G>T (p.Val819Phe)
c.1321G>T (p.Val441Phe)
c.2368G>T (p.Val790Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892346C=CA1583372519AFF4c.2455G= (p.Val819=)
c.1321G= (p.Val441=)
c.2368G= (p.Val790=)
5g.132892346C>GCA360929328AFF4c.2455G>C (p.Val819Leu)
c.1321G>C (p.Val441Leu)
c.2368G>C (p.Val790Leu)
 gnomAD v4
5g.132892346C>TCA360929330AFF4c.2455G>A (p.Val819Ile)
c.1321G>A (p.Val441Ile)
c.2368G>A (p.Val790Ile)
 dbSNP
5g.132892347A=CA1583372520AFF4c.2454T= (p.Pro818=)
c.1320T= (p.Pro440=)
c.2367T= (p.Pro789=)
5g.132892347A>CCA446498777AFF4c.2454T>G (p.Pro818=)
c.1320T>G (p.Pro440=)
c.2367T>G (p.Pro789=)
5g.132892347A>GCA446498778AFF4c.2454T>C (p.Pro818=)
c.1320T>C (p.Pro440=)
c.2367T>C (p.Pro789=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892347A>TCA446498779AFF4c.2454T>A (p.Pro818=)
c.1320T>A (p.Pro440=)
c.2367T>A (p.Pro789=)
5g.132892348G>ACA360929334AFF4c.2453C>T (p.Pro818Leu)
c.1319C>T (p.Pro440Leu)
c.2366C>T (p.Pro789Leu)
 gnomAD v4
5g.132892348G>CCA360929336AFF4c.2453C>G (p.Pro818Arg)
c.1319C>G (p.Pro440Arg)
c.2366C>G (p.Pro789Arg)
5g.132892348G>TCA360929332AFF4c.2453C>A (p.Pro818His)
c.1319C>A (p.Pro440His)
c.2366C>A (p.Pro789His)
5g.132892349G>ACA360929338AFF4c.2452C>T (p.Pro818Ser)
c.1318C>T (p.Pro440Ser)
c.2365C>T (p.Pro789Ser)
5g.132892349G>CCA360929340AFF4c.2452C>G (p.Pro818Ala)
c.1318C>G (p.Pro440Ala)
c.2365C>G (p.Pro789Ala)
5g.132892349G>TCA360929342AFF4c.2452C>A (p.Pro818Thr)
c.1318C>A (p.Pro440Thr)
c.2365C>A (p.Pro789Thr)
5g.132892350C>ACA446498782AFF4c.2451G>T (p.Gly817=)
c.1317G>T (p.Gly439=)
c.2364G>T (p.Gly788=)
5g.132892350C>GCA446498781AFF4c.2451G>C (p.Gly817=)
c.1317G>C (p.Gly439=)
c.2364G>C (p.Gly788=)
5g.132892350C>TCA446498780AFF4c.2451G>A (p.Gly817=)
c.1317G>A (p.Gly439=)
c.2364G>A (p.Gly788=)
 COSMIC
5g.132892351C>ACA360929344AFF4c.2450G>T (p.Gly817Val)
c.1316G>T (p.Gly439Val)
c.2363G>T (p.Gly788Val)
5g.132892351C>GCA360929346AFF4c.2450G>C (p.Gly817Ala)
c.1316G>C (p.Gly439Ala)
c.2363G>C (p.Gly788Ala)
5g.132892351C>TCA360929347AFF4c.2450G>A (p.Gly817Glu)
c.1316G>A (p.Gly439Glu)
c.2363G>A (p.Gly788Glu)
5g.132892352C>ACA360929353AFF4c.2449G>T (p.Gly817Trp)
c.1315G>T (p.Gly439Trp)
c.2362G>T (p.Gly788Trp)
5g.132892352C>GCA360929349AFF4c.2449G>C (p.Gly817Arg)
c.1315G>C (p.Gly439Arg)
c.2362G>C (p.Gly788Arg)
5g.132892352C>TCA360929351AFF4c.2449G>A (p.Gly817Arg)
c.1315G>A (p.Gly439Arg)
c.2362G>A (p.Gly788Arg)
5g.132892353A>CCA446498783AFF4c.2448T>G (p.Ala816=)
c.1314T>G (p.Ala438=)
c.2361T>G (p.Ala787=)
5g.132892353A>GCA446498784AFF4c.2448T>C (p.Ala816=)
c.1314T>C (p.Ala438=)
c.2361T>C (p.Ala787=)
5g.132892353A>TCA446498785AFF4c.2448T>A (p.Ala816=)
c.1314T>A (p.Ala438=)
c.2361T>A (p.Ala787=)
5g.132892354G>ACA360929356AFF4c.2447C>T (p.Ala816Val)
c.1313C>T (p.Ala438Val)
c.2360C>T (p.Ala787Val)
 COSMIC
5g.132892354G>CCA360929357AFF4c.2447C>G (p.Ala816Gly)
c.1313C>G (p.Ala438Gly)
c.2360C>G (p.Ala787Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.132892354G=CA1583372521AFF4c.2447C= (p.Ala816=)
c.1313C= (p.Ala438=)
c.2360C= (p.Ala787=)
5g.132892354G>TCA360929359AFF4c.2447C>A (p.Ala816Asp)
c.1313C>A (p.Ala438Asp)
c.2360C>A (p.Ala787Asp)
5g.132892355C>ACA360929362AFF4c.2446G>T (p.Ala816Ser)
c.1312G>T (p.Ala438Ser)
c.2359G>T (p.Ala787Ser)
 gnomAD v4 COSMIC
5g.132892355C=CA1583372522AFF4c.2446G= (p.Ala816=)
c.1312G= (p.Ala438=)
c.2359G= (p.Ala787=)
5g.132892355C>GCA360929364AFF4c.2446G>C (p.Ala816Pro)
c.1312G>C (p.Ala438Pro)
c.2359G>C (p.Ala787Pro)
5g.132892355C>TCA3408920AFF4c.2446G>A (p.Ala816Thr)
c.1312G>A (p.Ala438Thr)
c.2359G>A (p.Ala787Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892356G>ACA3408921AFF4c.2445C>T (p.Pro815=)
c.1311C>T (p.Pro437=)
c.2358C>T (p.Pro786=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892356G>CCA446498787AFF4c.2445C>G (p.Pro815=)
c.1311C>G (p.Pro437=)
c.2358C>G (p.Pro786=)
5g.132892356G=CA1583372523AFF4c.2445C= (p.Pro815=)
c.1311C= (p.Pro437=)
c.2358C= (p.Pro786=)
5g.132892356G>TCA446498786AFF4c.2445C>A (p.Pro815=)
c.1311C>A (p.Pro437=)
c.2358C>A (p.Pro786=)
5g.132892357G>ACA3408922AFF4c.2444C>T (p.Pro815Leu)
c.1310C>T (p.Pro437Leu)
c.2357C>T (p.Pro786Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892357G>CCA360929368AFF4c.2444C>G (p.Pro815Arg)
c.1310C>G (p.Pro437Arg)
c.2357C>G (p.Pro786Arg)
5g.132892357G=CA1583372524AFF4c.2444C= (p.Pro815=)
c.1310C= (p.Pro437=)
c.2357C= (p.Pro786=)
5g.132892357G>TCA360929370AFF4c.2444C>A (p.Pro815His)
c.1310C>A (p.Pro437His)
c.2357C>A (p.Pro786His)
5g.132892358G>ACA360929373AFF4c.2443C>T (p.Pro815Ser)
c.1309C>T (p.Pro437Ser)
c.2356C>T (p.Pro786Ser)
5g.132892358G>CCA360929377AFF4c.2443C>G (p.Pro815Ala)
c.1309C>G (p.Pro437Ala)
c.2356C>G (p.Pro786Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.132892358G=CA1583372525AFF4c.2443C= (p.Pro815=)
c.1309C= (p.Pro437=)
c.2356C= (p.Pro786=)
5g.132892358G>TCA360929375AFF4c.2443C>A (p.Pro815Thr)
c.1309C>A (p.Pro437Thr)
c.2356C>A (p.Pro786Thr)
5g.132892358_132892359insTAAGCGATCAGTAGGTACATGCGGGTGACGTCAACCTTGAGGAAGAACGCCACAATAATCAGCAAGCCA2768446648AFF4c.2442_2443insGCTTGCTGATTATTGTGGCGTTCTTCCTCAAGGTTGACGTCACCCGCATGTACCTACTGATCGCTTA (p.Pro815AlafsTer3)
c.1308_1309insGCTTGCTGATTATTGTGGCGTTCTTCCTCAAGGTTGACGTCACCCGCATGTACCTACTGATCGCTTA (p.Pro437AlafsTer3)
c.2355_2356insGCTTGCTGATTATTGTGGCGTTCTTCCTCAAGGTTGACGTCACCCGCATGTACCTACTGATCGCTTA (p.Pro786AlafsTer3)
5g.132892359A>CCA446498788AFF4c.2442T>G (p.Ser814=)
c.1308T>G (p.Ser436=)
c.2355T>G (p.Ser785=)
5g.132892359A>GCA446498789AFF4c.2442T>C (p.Ser814=)
c.1308T>C (p.Ser436=)
c.2355T>C (p.Ser785=)
5g.132892359A>TCA446498790AFF4c.2442T>A (p.Ser814=)
c.1308T>A (p.Ser436=)
c.2355T>A (p.Ser785=)
5g.132892360G>ACA360929379AFF4c.2441C>T (p.Ser814Phe)
c.1307C>T (p.Ser436Phe)
c.2354C>T (p.Ser785Phe)
5g.132892360G>CCA360929383AFF4c.2441C>G (p.Ser814Cys)
c.1307C>G (p.Ser436Cys)
c.2354C>G (p.Ser785Cys)
5g.132892360G>TCA360929381AFF4c.2441C>A (p.Ser814Tyr)
c.1307C>A (p.Ser436Tyr)
c.2354C>A (p.Ser785Tyr)
5g.132892361A>CCA360929385AFF4c.2440T>G (p.Ser814Ala)
c.1306T>G (p.Ser436Ala)
c.2353T>G (p.Ser785Ala)
5g.132892361A>GCA360929389AFF4c.2440T>C (p.Ser814Pro)
c.1306T>C (p.Ser436Pro)
c.2353T>C (p.Ser785Pro)
5g.132892361A>TCA360929387AFF4c.2440T>A (p.Ser814Thr)
c.1306T>A (p.Ser436Thr)
c.2353T>A (p.Ser785Thr)
5g.132892362A>CCA446498792AFF4c.2439T>G (p.Pro813=)
c.1305T>G (p.Pro435=)
c.2352T>G (p.Pro784=)
 gnomAD v4
5g.132892362A>GCA446498793AFF4c.2439T>C (p.Pro813=)
c.1305T>C (p.Pro435=)
c.2352T>C (p.Pro784=)
 gnomAD v4
5g.132892362A>TCA446498794AFF4c.2439T>A (p.Pro813=)
c.1305T>A (p.Pro435=)
c.2352T>A (p.Pro784=)
5g.132892363G>ACA360929391AFF4c.2438C>T (p.Pro813Leu)
c.1304C>T (p.Pro435Leu)
c.2351C>T (p.Pro784Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892363G>CCA360929393AFF4c.2438C>G (p.Pro813Arg)
c.1304C>G (p.Pro435Arg)
c.2351C>G (p.Pro784Arg)
5g.132892363G=CA1583372526AFF4c.2438C= (p.Pro813=)
c.1304C= (p.Pro435=)
c.2351C= (p.Pro784=)
5g.132892363G>TCA360929395AFF4c.2438C>A (p.Pro813His)
c.1304C>A (p.Pro435His)
c.2351C>A (p.Pro784His)
5g.132892364G>ACA360929397AFF4c.2437C>T (p.Pro813Ser)
c.1303C>T (p.Pro435Ser)
c.2350C>T (p.Pro784Ser)
 gnomAD v4
5g.132892364G>CCA360929398AFF4c.2437C>G (p.Pro813Ala)
c.1303C>G (p.Pro435Ala)
c.2350C>G (p.Pro784Ala)
5g.132892364G=CA1583372527AFF4c.2437C= (p.Pro813=)
c.1303C= (p.Pro435=)
c.2350C= (p.Pro784=)
5g.132892364G>TCA360929399AFF4c.2437C>A (p.Pro813Thr)
c.1303C>A (p.Pro435Thr)
c.2350C>A (p.Pro784Thr)
5g.132892365C>ACA360929401AFF4c.2436G>T (p.Leu812Phe)
c.1302G>T (p.Leu434Phe)
c.2349G>T (p.Leu783Phe)
5g.132892365C>GCA360929403AFF4c.2436G>C (p.Leu812Phe)
c.1302G>C (p.Leu434Phe)
c.2349G>C (p.Leu783Phe)
5g.132892365C>TCA446498797AFF4c.2436G>A (p.Leu812=)
c.1302G>A (p.Leu434=)
c.2349G>A (p.Leu783=)
5g.132892368_132892370dupCA563058197AFF4c.2434_2436dup (p.Leu812_Pro813insLeu)
c.1300_1302dup (p.Leu434_Pro435insLeu)
c.2347_2349dup (p.Leu783_Pro784insLeu)
 dbSNP gnomAD v2 gnomAD v4
5g.132892368_132892370delCA2578462025AFF4c.2434_2436del (p.Leu812del)
c.1300_1302del (p.Leu434del)
c.2347_2349del (p.Leu783del)
5g.132892366A>CCA360929405AFF4c.2435T>G (p.Leu812Trp)
c.1301T>G (p.Leu434Trp)
c.2348T>G (p.Leu783Trp)
5g.132892366A>GCA360929407AFF4c.2435T>C (p.Leu812Ser)
c.1301T>C (p.Leu434Ser)
c.2348T>C (p.Leu783Ser)
5g.132892366A>TCA360929410AFF4c.2435T>A (p.Leu812Ter)
c.1301T>A (p.Leu434Ter)
c.2348T>A (p.Leu783Ter)
5g.132892367A>CCA360929412AFF4c.2434T>G (p.Leu812Val)
c.1300T>G (p.Leu434Val)
c.2347T>G (p.Leu783Val)
5g.132892367A>GCA446498799AFF4c.2434T>C (p.Leu812=)
c.1300T>C (p.Leu434=)
c.2347T>C (p.Leu783=)
5g.132892367A>TCA360929414AFF4c.2434T>A (p.Leu812Met)
c.1300T>A (p.Leu434Met)
c.2347T>A (p.Leu783Met)
5g.132892368C>ACA360929418AFF4c.2433G>T (p.Leu811Phe)
c.1299G>T (p.Leu433Phe)
c.2346G>T (p.Leu782Phe)
5g.132892368C>GCA360929416AFF4c.2433G>C (p.Leu811Phe)
c.1299G>C (p.Leu433Phe)
c.2346G>C (p.Leu782Phe)
5g.132892368C>TCA446498801AFF4c.2433G>A (p.Leu811=)
c.1299G>A (p.Leu433=)
c.2346G>A (p.Leu782=)
5g.132892369A>CCA360929420AFF4c.2432T>G (p.Leu811Trp)
c.1298T>G (p.Leu433Trp)
c.2345T>G (p.Leu782Trp)
5g.132892369A>GCA360929422AFF4c.2432T>C (p.Leu811Ser)
c.1298T>C (p.Leu433Ser)
c.2345T>C (p.Leu782Ser)
5g.132892369A>TCA360929424AFF4c.2432T>A (p.Leu811Ter)
c.1298T>A (p.Leu433Ter)
c.2345T>A (p.Leu782Ter)
5g.132892370A>CCA360929426AFF4c.2431T>G (p.Leu811Val)
c.1297T>G (p.Leu433Val)
c.2344T>G (p.Leu782Val)
5g.132892370A>GCA446498802AFF4c.2431T>C (p.Leu811=)
c.1297T>C (p.Leu433=)
c.2344T>C (p.Leu782=)
5g.132892370A>TCA360929429AFF4c.2431T>A (p.Leu811Met)
c.1297T>A (p.Leu433Met)
c.2344T>A (p.Leu782Met)
5g.132892371A=CA1583372528AFF4c.2430T= (p.Asp810=)
c.1296T= (p.Asp432=)
c.2343T= (p.Asp781=)
5g.132892371A>CCA360929431AFF4c.2430T>G (p.Asp810Glu)
c.1296T>G (p.Asp432Glu)
c.2343T>G (p.Asp781Glu)
5g.132892371A>GCA446498803AFF4c.2430T>C (p.Asp810=)
c.1296T>C (p.Asp432=)
c.2343T>C (p.Asp781=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892371A>TCA360929433AFF4c.2430T>A (p.Asp810Glu)
c.1296T>A (p.Asp432Glu)
c.2343T>A (p.Asp781Glu)
5g.132892372T>ACA360929436AFF4c.2429A>T (p.Asp810Val)
c.1295A>T (p.Asp432Val)
c.2342A>T (p.Asp781Val)
5g.132892372T>CCA360929438AFF4c.2429A>G (p.Asp810Gly)
c.1295A>G (p.Asp432Gly)
c.2342A>G (p.Asp781Gly)
5g.132892372T>GCA360929440AFF4c.2429A>C (p.Asp810Ala)
c.1295A>C (p.Asp432Ala)
c.2342A>C (p.Asp781Ala)
5g.132892373C>ACA360929441AFF4c.2428G>T (p.Asp810Tyr)
c.1294G>T (p.Asp432Tyr)
c.2341G>T (p.Asp781Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892373C=CA1583372529AFF4c.2428G= (p.Asp810=)
c.1294G= (p.Asp432=)
c.2341G= (p.Asp781=)
5g.132892373C>GCA360929443AFF4c.2428G>C (p.Asp810His)
c.1294G>C (p.Asp432His)
c.2341G>C (p.Asp781His)
5g.132892373C>TCA360929445AFF4c.2428G>A (p.Asp810Asn)
c.1294G>A (p.Asp432Asn)
c.2341G>A (p.Asp781Asn)
5g.132892374C>ACA360929447AFF4c.2427G>T (p.Lys809Asn)
c.1293G>T (p.Lys431Asn)
c.2340G>T (p.Lys780Asn)
 gnomAD v4
5g.132892374C>GCA360929449AFF4c.2427G>C (p.Lys809Asn)
c.1293G>C (p.Lys431Asn)
c.2340G>C (p.Lys780Asn)
5g.132892374C>TCA446498807AFF4c.2427G>A (p.Lys809=)
c.1293G>A (p.Lys431=)
c.2340G>A (p.Lys780=)
5g.132892375T>ACA360929452AFF4c.2426A>T (p.Lys809Met)
c.1292A>T (p.Lys431Met)
c.2339A>T (p.Lys780Met)
5g.132892375T>CCA3408923AFF4c.2426A>G (p.Lys809Arg)
c.1292A>G (p.Lys431Arg)
c.2339A>G (p.Lys780Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892375T>GCA360929455AFF4c.2426A>C (p.Lys809Thr)
c.1292A>C (p.Lys431Thr)
c.2339A>C (p.Lys780Thr)
5g.132892375T=CA1583372530AFF4c.2426A= (p.Lys809=)
c.1292A= (p.Lys431=)
c.2339A= (p.Lys780=)
5g.132892376T>ACA360929457AFF4c.2425A>T (p.Lys809Ter)
c.1291A>T (p.Lys431Ter)
c.2338A>T (p.Lys780Ter)
5g.132892376T>CCA360929459AFF4c.2425A>G (p.Lys809Glu)
c.1291A>G (p.Lys431Glu)
c.2338A>G (p.Lys780Glu)
5g.132892376T>GCA360929461AFF4c.2425A>C (p.Lys809Gln)
c.1291A>C (p.Lys431Gln)
c.2338A>C (p.Lys780Gln)
5g.132892377T>ACA360929463AFF4c.2424A>T (p.Glu808Asp)
c.1290A>T (p.Glu430Asp)
c.2337A>T (p.Glu779Asp)
5g.132892377T>CCA446498809AFF4c.2424A>G (p.Glu808=)
c.1290A>G (p.Glu430=)
c.2337A>G (p.Glu779=)
 gnomAD v4
5g.132892377T>GCA360929464AFF4c.2424A>C (p.Glu808Asp)
c.1290A>C (p.Glu430Asp)
c.2337A>C (p.Glu779Asp)
5g.132892378T>ACA360929466AFF4c.2423A>T (p.Glu808Val)
c.1289A>T (p.Glu430Val)
c.2336A>T (p.Glu779Val)
5g.132892378T>CCA360929467AFF4c.2423A>G (p.Glu808Gly)
c.1289A>G (p.Glu430Gly)
c.2336A>G (p.Glu779Gly)
5g.132892378T>GCA360929469AFF4c.2423A>C (p.Glu808Ala)
c.1289A>C (p.Glu430Ala)
c.2336A>C (p.Glu779Ala)
 dbSNP
5g.132892378T=CA1583372531AFF4c.2423A= (p.Glu808=)
c.1289A= (p.Glu430=)
c.2336A= (p.Glu779=)
5g.132892379C>ACA360929471AFF4c.2422G>T (p.Glu808Ter)
c.1288G>T (p.Glu430Ter)
c.2335G>T (p.Glu779Ter)
5g.132892379C>GCA360929473AFF4c.2422G>C (p.Glu808Gln)
c.1288G>C (p.Glu430Gln)
c.2335G>C (p.Glu779Gln)
5g.132892379C>TCA360929475AFF4c.2422G>A (p.Glu808Lys)
c.1288G>A (p.Glu430Lys)
c.2335G>A (p.Glu779Lys)
 gnomAD v4
5g.132892380T>ACA360929477AFF4c.2421A>T (p.Lys807Asn)
c.1287A>T (p.Lys429Asn)
c.2334A>T (p.Lys778Asn)
5g.132892380T>CCA446498811AFF4c.2421A>G (p.Lys807=)
c.1287A>G (p.Lys429=)
c.2334A>G (p.Lys778=)
5g.132892380T>GCA360929478AFF4c.2421A>C (p.Lys807Asn)
c.1287A>C (p.Lys429Asn)
c.2334A>C (p.Lys778Asn)
5g.132892381T>ACA360929481AFF4c.2420A>T (p.Lys807Ile)
c.1286A>T (p.Lys429Ile)
c.2333A>T (p.Lys778Ile)
5g.132892381T>CCA360929483AFF4c.2420A>G (p.Lys807Arg)
c.1286A>G (p.Lys429Arg)
c.2333A>G (p.Lys778Arg)
5g.132892381T>GCA360929484AFF4c.2420A>C (p.Lys807Thr)
c.1286A>C (p.Lys429Thr)
c.2333A>C (p.Lys778Thr)
5g.132892382T>ACA360929486AFF4c.2419A>T (p.Lys807Ter)
c.1285A>T (p.Lys429Ter)
c.2332A>T (p.Lys778Ter)
5g.132892382T>CCA3408924AFF4c.2419A>G (p.Lys807Glu)
c.1285A>G (p.Lys429Glu)
c.2332A>G (p.Lys778Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892382T>GCA360929489AFF4c.2419A>C (p.Lys807Gln)
c.1285A>C (p.Lys429Gln)
c.2332A>C (p.Lys778Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.132892382T=CA1583372532AFF4c.2419A= (p.Lys807=)
c.1285A= (p.Lys429=)
c.2332A= (p.Lys778=)
5g.132892383T>ACA446498813AFF4c.2418A>T (p.Ala806=)
c.1284A>T (p.Ala428=)
c.2331A>T (p.Ala777=)
5g.132892383T>CCA446498814AFF4c.2418A>G (p.Ala806=)
c.1284A>G (p.Ala428=)
c.2331A>G (p.Ala777=)
 dbSNP gnomAD v2 gnomAD v4
5g.132892383T>GCA446498815AFF4c.2418A>C (p.Ala806=)
c.1284A>C (p.Ala428=)
c.2331A>C (p.Ala777=)
5g.132892383T=CA1583372533AFF4c.2418A= (p.Ala806=)
c.1284A= (p.Ala428=)
c.2331A= (p.Ala777=)
5g.132892384G>ACA360929492AFF4c.2417C>T (p.Ala806Val)
c.1283C>T (p.Ala428Val)
c.2330C>T (p.Ala777Val)
5g.132892384G>CCA360929494AFF4c.2417C>G (p.Ala806Gly)
c.1283C>G (p.Ala428Gly)
c.2330C>G (p.Ala777Gly)
5g.132892384G=CA1583372534AFF4c.2417C= (p.Ala806=)
c.1283C= (p.Ala428=)
c.2330C= (p.Ala777=)
5g.132892384G>TCA3408925AFF4c.2417C>A (p.Ala806Glu)
c.1283C>A (p.Ala428Glu)
c.2330C>A (p.Ala777Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892385C>ACA360929497AFF4c.2416G>T (p.Ala806Ser)
c.1282G>T (p.Ala428Ser)
c.2329G>T (p.Ala777Ser)
5g.132892385C=CA1583372535AFF4c.2416G= (p.Ala806=)
c.1282G= (p.Ala428=)
c.2329G= (p.Ala777=)
5g.132892385C>GCA360929499AFF4c.2416G>C (p.Ala806Pro)
c.1282G>C (p.Ala428Pro)
c.2329G>C (p.Ala777Pro)
5g.132892385C>TCA127270232AFF4c.2416G>A (p.Ala806Thr)
c.1282G>A (p.Ala428Thr)
c.2329G>A (p.Ala777Thr)
 dbSNP gnomAD v4
5g.132892386A>CCA446498821AFF4c.2415T>G (p.Ala805=)
c.1281T>G (p.Ala427=)
c.2328T>G (p.Ala776=)
5g.132892386A>GCA446498820AFF4c.2415T>C (p.Ala805=)
c.1281T>C (p.Ala427=)
c.2328T>C (p.Ala776=)
5g.132892386A>TCA446498819AFF4c.2415T>A (p.Ala805=)
c.1281T>A (p.Ala427=)
c.2328T>A (p.Ala776=)
5g.132892387G>ACA360929503AFF4c.2414C>T (p.Ala805Val)
c.1280C>T (p.Ala427Val)
c.2327C>T (p.Ala776Val)
5g.132892387G>CCA360929507AFF4c.2414C>G (p.Ala805Gly)
c.1280C>G (p.Ala427Gly)
c.2327C>G (p.Ala776Gly)
5g.132892387G>TCA360929505AFF4c.2414C>A (p.Ala805Asp)
c.1280C>A (p.Ala427Asp)
c.2327C>A (p.Ala776Asp)
5g.132892388C>ACA360929509AFF4c.2413G>T (p.Ala805Ser)
c.1279G>T (p.Ala427Ser)
c.2326G>T (p.Ala776Ser)
5g.132892388C>GCA360929513AFF4c.2413G>C (p.Ala805Pro)
c.1279G>C (p.Ala427Pro)
c.2326G>C (p.Ala776Pro)
5g.132892388C>TCA360929511AFF4c.2413G>A (p.Ala805Thr)
c.1279G>A (p.Ala427Thr)
c.2326G>A (p.Ala776Thr)
5g.132892389A>CCA360929514AFF4c.2412T>G (p.Ser804Arg)
c.1278T>G (p.Ser426Arg)
c.2325T>G (p.Ser775Arg)
5g.132892389A>GCA446498825AFF4c.2412T>C (p.Ser804=)
c.1278T>C (p.Ser426=)
c.2325T>C (p.Ser775=)
5g.132892389A>TCA360929515AFF4c.2412T>A (p.Ser804Arg)
c.1278T>A (p.Ser426Arg)
c.2325T>A (p.Ser775Arg)
5g.132892390C>ACA360929517AFF4c.2411G>T (p.Ser804Ile)
c.1277G>T (p.Ser426Ile)
c.2324G>T (p.Ser775Ile)
5g.132892390C=CA1583372536AFF4c.2411G= (p.Ser804=)
c.1277G= (p.Ser426=)
c.2324G= (p.Ser775=)
5g.132892390C>GCA360929519AFF4c.2411G>C (p.Ser804Thr)
c.1277G>C (p.Ser426Thr)
c.2324G>C (p.Ser775Thr)
5g.132892390C>TCA3408926AFF4c.2411G>A (p.Ser804Asn)
c.1277G>A (p.Ser426Asn)
c.2324G>A (p.Ser775Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892391T>ACA360929523AFF4c.2410A>T (p.Ser804Cys)
c.1276A>T (p.Ser426Cys)
c.2323A>T (p.Ser775Cys)
5g.132892391T>CCA360929525AFF4c.2410A>G (p.Ser804Gly)
c.1276A>G (p.Ser426Gly)
c.2323A>G (p.Ser775Gly)
 gnomAD v4
5g.132892391T>GCA360929527AFF4c.2410A>C (p.Ser804Arg)
c.1276A>C (p.Ser426Arg)
c.2323A>C (p.Ser775Arg)
5g.132892392C>ACA360929532AFF4c.2409G>T (p.Gln803His)
c.1275G>T (p.Gln425His)
c.2322G>T (p.Gln774His)
5g.132892392C>GCA360929534AFF4c.2409G>C (p.Gln803His)
c.1275G>C (p.Gln425His)
c.2322G>C (p.Gln774His)
5g.132892392C>TCA446498833AFF4c.2409G>A (p.Gln803=)
c.1275G>A (p.Gln425=)
c.2322G>A (p.Gln774=)
 COSMIC
5g.132892393T>ACA360929540AFF4c.2408A>T (p.Gln803Leu)
c.1274A>T (p.Gln425Leu)
c.2321A>T (p.Gln774Leu)
5g.132892393T>CCA360929539AFF4c.2408A>G (p.Gln803Arg)
c.1274A>G (p.Gln425Arg)
c.2321A>G (p.Gln774Arg)
5g.132892393T>GCA360929537AFF4c.2408A>C (p.Gln803Pro)
c.1274A>C (p.Gln425Pro)
c.2321A>C (p.Gln774Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892393T=CA1583372537AFF4c.2408A= (p.Gln803=)
c.1274A= (p.Gln425=)
c.2321A= (p.Gln774=)
5g.132892394G>ACA360929542AFF4c.2407C>T (p.Gln803Ter)
c.1273C>T (p.Gln425Ter)
c.2320C>T (p.Gln774Ter)
5g.132892394G>CCA360929543AFF4c.2407C>G (p.Gln803Glu)
c.1273C>G (p.Gln425Glu)
c.2320C>G (p.Gln774Glu)
5g.132892394G>TCA360929544AFF4c.2407C>A (p.Gln803Lys)
c.1273C>A (p.Gln425Lys)
c.2320C>A (p.Gln774Lys)
5g.132892395C>ACA360929546AFF4c.2406G>T (p.Lys802Asn)
c.1272G>T (p.Lys424Asn)
c.2319G>T (p.Lys773Asn)
5g.132892395C>GCA360929548AFF4c.2406G>C (p.Lys802Asn)
c.1272G>C (p.Lys424Asn)
c.2319G>C (p.Lys773Asn)
5g.132892395C>TCA446498835AFF4c.2406G>A (p.Lys802=)
c.1272G>A (p.Lys424=)
c.2319G>A (p.Lys773=)
5g.132892396T>ACA360929549AFF4c.2405A>T (p.Lys802Met)
c.1271A>T (p.Lys424Met)
c.2318A>T (p.Lys773Met)
5g.132892396T>CCA360929552AFF4c.2405A>G (p.Lys802Arg)
c.1271A>G (p.Lys424Arg)
c.2318A>G (p.Lys773Arg)
 gnomAD v4
5g.132892396T>GCA360929553AFF4c.2405A>C (p.Lys802Thr)
c.1271A>C (p.Lys424Thr)
c.2318A>C (p.Lys773Thr)
5g.132892397T>ACA360929555AFF4c.2404A>T (p.Lys802Ter)
c.1270A>T (p.Lys424Ter)
c.2317A>T (p.Lys773Ter)
5g.132892397T>CCA360929557AFF4c.2404A>G (p.Lys802Glu)
c.1270A>G (p.Lys424Glu)
c.2317A>G (p.Lys773Glu)
5g.132892397T>GCA360929559AFF4c.2404A>C (p.Lys802Gln)
c.1270A>C (p.Lys424Gln)
c.2317A>C (p.Lys773Gln)
5g.132892398A>CCA446498837AFF4c.2403T>G (p.Ser801=)
c.1269T>G (p.Ser423=)
c.2316T>G (p.Ser772=)
5g.132892398A>GCA446498838AFF4c.2403T>C (p.Ser801=)
c.1269T>C (p.Ser423=)
c.2316T>C (p.Ser772=)
5g.132892398A>TCA446498839AFF4c.2403T>A (p.Ser801=)
c.1269T>A (p.Ser423=)
c.2316T>A (p.Ser772=)
 gnomAD v4
5g.132892399G>ACA360929563AFF4c.2402C>T (p.Ser801Phe)
c.1268C>T (p.Ser423Phe)
c.2315C>T (p.Ser772Phe)
5g.132892399G>CCA360929564AFF4c.2402C>G (p.Ser801Cys)
c.1268C>G (p.Ser423Cys)
c.2315C>G (p.Ser772Cys)
5g.132892399G>TCA360929561AFF4c.2402C>A (p.Ser801Tyr)
c.1268C>A (p.Ser423Tyr)
c.2315C>A (p.Ser772Tyr)
5g.132892400A>CCA360929566AFF4c.2401T>G (p.Ser801Ala)
c.1267T>G (p.Ser423Ala)
c.2314T>G (p.Ser772Ala)
5g.132892400A>GCA360929568AFF4c.2401T>C (p.Ser801Pro)
c.1267T>C (p.Ser423Pro)
c.2314T>C (p.Ser772Pro)
5g.132892400A>TCA360929570AFF4c.2401T>A (p.Ser801Thr)
c.1267T>A (p.Ser423Thr)
c.2314T>A (p.Ser772Thr)
5g.132892401T>ACA446498841AFF4c.2400A>T (p.Ser800=)
c.1266A>T (p.Ser422=)
c.2313A>T (p.Ser771=)
5g.132892401T>CCA446498842AFF4c.2400A>G (p.Ser800=)
c.1266A>G (p.Ser422=)
c.2313A>G (p.Ser771=)
 gnomAD v4
5g.132892401T>GCA446498843AFF4c.2400A>C (p.Ser800=)
c.1266A>C (p.Ser422=)
c.2313A>C (p.Ser771=)
5g.132892402G>ACA360929571AFF4c.2399C>T (p.Ser800Leu)
c.1265C>T (p.Ser422Leu)
c.2312C>T (p.Ser771Leu)
5g.132892402G>CCA360929573AFF4c.2399C>G (p.Ser800Ter)
c.1265C>G (p.Ser422Ter)
c.2312C>G (p.Ser771Ter)
5g.132892402G>TCA360929576AFF4c.2399C>A (p.Ser800Ter)
c.1265C>A (p.Ser422Ter)
c.2312C>A (p.Ser771Ter)
5g.132892403A=CA1583372538AFF4c.2398T= (p.Ser800=)
c.1264T= (p.Ser422=)
c.2311T= (p.Ser771=)
5g.132892403A>CCA360929577AFF4c.2398T>G (p.Ser800Ala)
c.1264T>G (p.Ser422Ala)
c.2311T>G (p.Ser771Ala)
 dbSNP
5g.132892403A>GCA360929579AFF4c.2398T>C (p.Ser800Pro)
c.1264T>C (p.Ser422Pro)
c.2311T>C (p.Ser771Pro)
5g.132892403A>TCA360929581AFF4c.2398T>A (p.Ser800Thr)
c.1264T>A (p.Ser422Thr)
c.2311T>A (p.Ser771Thr)
5g.132892404C>ACA360929583AFF4c.2397G>T (p.Glu799Asp)
c.1263G>T (p.Glu421Asp)
c.2310G>T (p.Glu770Asp)
5g.132892404C>GCA360929584AFF4c.2397G>C (p.Glu799Asp)
c.1263G>C (p.Glu421Asp)
c.2310G>C (p.Glu770Asp)
5g.132892404C>TCA446498845AFF4c.2397G>A (p.Glu799=)
c.1263G>A (p.Glu421=)
c.2310G>A (p.Glu770=)
5g.132892405C>ACA360929589AFF4c.2397-1G>T (n.2397-1G>T)
c.1263-1G>T (n.1263-1G>T)
c.2310-1G>T (n.2310-1G>T)
 gnomAD v4
5g.132892405C>GCA360929591AFF4c.2397-1G>C (n.2397-1G>C)
c.1263-1G>C (n.1263-1G>C)
c.2310-1G>C (n.2310-1G>C)
5g.132892405C>TCA360929587AFF4c.2397-1G>A (n.2397-1G>A)
c.1263-1G>A (n.1263-1G>A)
c.2310-1G>A (n.2310-1G>A)
 gnomAD v4
5g.132892406T>ACA360929593AFF4c.2397-2A>T (n.2397-2A>T)
c.1263-2A>T (n.1263-2A>T)
c.2310-2A>T (n.2310-2A>T)
5g.132892406T>CCA360929595AFF4c.2397-2A>G (n.2397-2A>G)
c.1263-2A>G (n.1263-2A>G)
c.2310-2A>G (n.2310-2A>G)
5g.132892406T>GCA360929597AFF4c.2397-2A>C (n.2397-2A>C)
c.1263-2A>C (n.1263-2A>C)
c.2310-2A>C (n.2310-2A>C)
5g.132892407G>ACA2578462026AFF4c.2397-3C>T (n.2397-3C>T)
c.1263-3C>T (n.1263-3C>T)
c.2310-3C>T (n.2310-3C>T)
 gnomAD v4
5g.132892408C>ACA1583372540AFF4c.2397-4G>T (n.2397-4G>T)
c.1263-4G>T (n.1263-4G>T)
c.2310-4G>T (n.2310-4G>T)
 dbSNP
5g.132892408C=CA1583372539AFF4c.2397-4G= (n.2397-4G=)
c.1263-4G= (n.1263-4G=)
c.2310-4G= (n.2310-4G=)
5g.132892409C=CA1583372541AFF4c.2397-5G= (n.2397-5G=)
c.1263-5G= (n.1263-5G=)
c.2310-5G= (n.2310-5G=)
5g.132892409C>GCA563058198AFF4c.2397-5G>C (n.2397-5G>C)
c.1263-5G>C (n.1263-5G>C)
c.2310-5G>C (n.2310-5G>C)
 dbSNP gnomAD v2 gnomAD v4
5g.132892413C>ACA1583372543AFF4c.2397-9G>T (n.2397-9G>T)
c.1263-9G>T (n.1263-9G>T)
c.2310-9G>T (n.2310-9G>T)
 dbSNP gnomAD v4
5g.132892413C=CA1583372542AFF4c.2397-9G= (n.2397-9G=)
c.1263-9G= (n.1263-9G=)
c.2310-9G= (n.2310-9G=)
5g.132892413C>TCA3408927AFF4c.2397-9G>A (n.2397-9G>A)
c.1263-9G>A (n.1263-9G>A)
c.2310-9G>A (n.2310-9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892413_132892414insACA2768446651AFF4c.2397-10_2397-9insT (n.2397-10_2397-9insT)
c.1263-10_1263-9insT (n.1263-10_1263-9insT)
c.2310-10_2310-9insT (n.2310-10_2310-9insT)
5g.132892413_132892414insACACCCAACACA2768446652AFF4c.2397-10_2397-9insTGTTGGGTGT (n.2397-10_2397-9insTGTTGGGTGT)
c.1263-10_1263-9insTGTTGGGTGT (n.1263-10_1263-9insTGTTGGGTGT)
c.2310-10_2310-9insTGTTGGGTGT (n.2310-10_2310-9insTGTTGGGTGT)
5g.132892414_132892415delinsCACA1583372544AFF4c.2397-11_2397-10delinsTG (n.2397-11_2397-10delinsTG)
c.1263-11_1263-10delinsTG (n.1263-11_1263-10delinsTG)
c.2310-11_2310-10delinsTG (n.2310-11_2310-10delinsTG)
5g.132892417delCA360929601AFF4c.2397-11del (n.2397-11del)
c.1263-11del (n.1263-11del)
c.2310-11del (n.2310-11del)
 dbSNP
5g.132892416A>GCA2675252576AFF4c.2397-12T>C (n.2397-12T>C)
c.1263-12T>C (n.1263-12T>C)
c.2310-12T>C (n.2310-12T>C)
 gnomAD v4
5g.132892418C=CA1583372545AFF4c.2397-14G= (n.2397-14G=)
c.1263-14G= (n.1263-14G=)
c.2310-14G= (n.2310-14G=)
5g.132892418C>TCA3408928AFF4c.2397-14G>A (n.2397-14G>A)
c.1263-14G>A (n.1263-14G>A)
c.2310-14G>A (n.2310-14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892419delCA2768446657AFF4c.2397-15del (n.2397-15del)
c.1263-15del (n.1263-15del)
c.2310-15del (n.2310-15del)
5g.132892419G>ACA3408929AFF4c.2397-15C>T (n.2397-15C>T)
c.1263-15C>T (n.1263-15C>T)
c.2310-15C>T (n.2310-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892419G=CA1583372546AFF4c.2397-15C= (n.2397-15C=)
c.1263-15C= (n.1263-15C=)
c.2310-15C= (n.2310-15C=)
5g.132892419G>TCA2675252577AFF4c.2397-15C>A (n.2397-15C>A)
c.1263-15C>A (n.1263-15C>A)
c.2310-15C>A (n.2310-15C>A)
 gnomAD v4
5g.132892421_132892427delCA2768446658AFF4c.2397-23_2397-17del (n.2397-23_2397-17del)
c.1263-23_1263-17del (n.1263-23_1263-17del)
c.2310-23_2310-17del (n.2310-23_2310-17del)
5g.132892422T>CCA3408930AFF4c.2397-18A>G (n.2397-18A>G)
c.1263-18A>G (n.1263-18A>G)
c.2310-18A>G (n.2310-18A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892422T=CA1583372547AFF4c.2397-18A= (n.2397-18A=)
c.1263-18A= (n.1263-18A=)
c.2310-18A= (n.2310-18A=)
5g.132892423G>ACA1081673030AFF4c.2397-19C>T (n.2397-19C>T)
c.1263-19C>T (n.1263-19C>T)
c.2310-19C>T (n.2310-19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.132892423G=CA1583372548AFF4c.2397-19C= (n.2397-19C=)
c.1263-19C= (n.1263-19C=)
c.2310-19C= (n.2310-19C=)
5g.132892423G>TCA2675252578AFF4c.2397-19C>A (n.2397-19C>A)
c.1263-19C>A (n.1263-19C>A)
c.2310-19C>A (n.2310-19C>A)
 gnomAD v4

Number of alleles fetched