Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135804822A>CCA348595819LCTc.4409T>G (p.Leu1470Arg)
c.2705T>G (p.Leu902Arg)
2g.135804822A>GCA348595821LCTc.4409T>C (p.Leu1470Pro)
c.2705T>C (p.Leu902Pro)
2g.135804822A>TCA348595824LCTc.4409T>A (p.Leu1470Gln)
c.2705T>A (p.Leu902Gln)
2g.135804823G>ACA429203002LCTc.4408C>T (p.Leu1470=)
c.2704C>T (p.Leu902=)
2g.135804823G>CCA348595828LCTc.4408C>G (p.Leu1470Val)
c.2704C>G (p.Leu902Val)
2g.135804823G>TCA348595830LCTc.4408C>A (p.Leu1470Met)
c.2704C>A (p.Leu902Met)
2g.135804824G>ACA429203004LCTc.4407C>T (p.Gly1469=)
c.2703C>T (p.Gly901=)
 ClinVar dbSNP
2g.135804824G>CCA429203006LCTc.4407C>G (p.Gly1469=)
c.2703C>G (p.Gly901=)
2g.135804824G=CA1290829338LCTc.4407C= (p.Gly1469=)
c.2703C= (p.Gly901=)
2g.135804824G>TCA429203007LCTc.4407C>A (p.Gly1469=)
c.2703C>A (p.Gly901=)
2g.135804825C>ACA348595832LCTc.4406G>T (p.Gly1469Val)
c.2702G>T (p.Gly901Val)
2g.135804825C>GCA348595835LCTc.4406G>C (p.Gly1469Ala)
c.2702G>C (p.Gly901Ala)
2g.135804825C>TCA348595837LCTc.4406G>A (p.Gly1469Asp)
c.2702G>A (p.Gly901Asp)
2g.135804826C>ACA348595841LCTc.4405G>T (p.Gly1469Cys)
c.2701G>T (p.Gly901Cys)
2g.135804826C>GCA348595843LCTc.4405G>C (p.Gly1469Arg)
c.2701G>C (p.Gly901Arg)
2g.135804826C>TCA348595845LCTc.4405G>A (p.Gly1469Ser)
c.2701G>A (p.Gly901Ser)
2g.135804827C>ACA429203009LCTc.4404G>T (p.Ala1468=)
c.2700G>T (p.Ala900=)
2g.135804827C=CA1290829339LCTc.4404G= (p.Ala1468=)
c.2700G= (p.Ala900=)
2g.135804827C>GCA1887865LCTc.4404G>C (p.Ala1468=)
c.2700G>C (p.Ala900=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804827C>TCA1887866LCTc.4404G>A (p.Ala1468=)
c.2700G>A (p.Ala900=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804827_135804828delinsCGCA1290829340LCTc.4403_4404delinsCG (p.Ala1468=)
c.2699_2700delinsCG (p.Ala900=)
2g.135804828delCA1036798393LCTc.4403del (p.Ala1468GlyfsTer3)
c.2699del (p.Ala900GlyfsTer3)
 dbSNP gnomAD v3 gnomAD v4
2g.135804828G>ACA56609720LCTc.4403C>T (p.Ala1468Val)
c.2699C>T (p.Ala900Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.135804828G>CCA348595856LCTc.4403C>G (p.Ala1468Gly)
c.2699C>G (p.Ala900Gly)
2g.135804828G=CA1290829341LCTc.4403C= (p.Ala1468=)
c.2699C= (p.Ala900=)
2g.135804828G>TCA348595852LCTc.4403C>A (p.Ala1468Glu)
c.2699C>A (p.Ala900Glu)
 dbSNP COSMIC
2g.135804829C>ACA348595859LCTc.4402G>T (p.Ala1468Ser)
c.2698G>T (p.Ala900Ser)
2g.135804829C=CA1290829342LCTc.4402G= (p.Ala1468=)
c.2698G= (p.Ala900=)
2g.135804829C>GCA348595862LCTc.4402G>C (p.Ala1468Pro)
c.2698G>C (p.Ala900Pro)
2g.135804829C>TCA348595864LCTc.4402G>A (p.Ala1468Thr)
c.2698G>A (p.Ala900Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.135804830T>ACA348595865LCTc.4401A>T (p.Glu1467Asp)
c.2697A>T (p.Glu899Asp)
 dbSNP
2g.135804830T>CCA429203010LCTc.4401A>G (p.Glu1467=)
c.2697A>G (p.Glu899=)
2g.135804830T>GCA348595868LCTc.4401A>C (p.Glu1467Asp)
c.2697A>C (p.Glu899Asp)
2g.135804830T=CA1290829343LCTc.4401A= (p.Glu1467=)
c.2697A= (p.Glu899=)
2g.135804831T>ACA348595871LCTc.4400A>T (p.Glu1467Val)
c.2696A>T (p.Glu899Val)
2g.135804831T>CCA348595873LCTc.4400A>G (p.Glu1467Gly)
c.2696A>G (p.Glu899Gly)
2g.135804831T>GCA348595876LCTc.4400A>C (p.Glu1467Ala)
c.2696A>C (p.Glu899Ala)
2g.135804832C>ACA348595879LCTc.4399G>T (p.Glu1467Ter)
c.2695G>T (p.Glu899Ter)
2g.135804832C>GCA348595881LCTc.4399G>C (p.Glu1467Gln)
c.2695G>C (p.Glu899Gln)
2g.135804832C>TCA348595884LCTc.4399G>A (p.Glu1467Lys)
c.2695G>A (p.Glu899Lys)
2g.135804833A>CCA348595887LCTc.4398T>G (p.Asn1466Lys)
c.2694T>G (p.Asn898Lys)
2g.135804833A>GCA429203011LCTc.4398T>C (p.Asn1466=)
c.2694T>C (p.Asn898=)
 gnomAD v4
2g.135804833A>TCA348595888LCTc.4398T>A (p.Asn1466Lys)
c.2694T>A (p.Asn898Lys)
2g.135804834T>ACA348595892LCTc.4397A>T (p.Asn1466Ile)
c.2693A>T (p.Asn898Ile)
2g.135804834T>CCA348595898LCTc.4397A>G (p.Asn1466Ser)
c.2693A>G (p.Asn898Ser)
 dbSNP gnomAD v4
2g.135804834T>GCA348595895LCTc.4397A>C (p.Asn1466Thr)
c.2693A>C (p.Asn898Thr)
2g.135804834T=CA1290829344LCTc.4397A= (p.Asn1466=)
c.2693A= (p.Asn898=)
2g.135804835T>ACA348595901LCTc.4396A>T (p.Asn1466Tyr)
c.2692A>T (p.Asn898Tyr)
2g.135804835T>CCA348595903LCTc.4396A>G (p.Asn1466Asp)
c.2692A>G (p.Asn898Asp)
2g.135804835T>GCA348595905LCTc.4396A>C (p.Asn1466His)
c.2692A>C (p.Asn898His)
2g.135804836G>ACA429203013LCTc.4395C>T (p.Ile1465=)
c.2691C>T (p.Ile897=)
2g.135804836G>CCA348595909LCTc.4395C>G (p.Ile1465Met)
c.2691C>G (p.Ile897Met)
2g.135804836G>TCA429203015LCTc.4395C>A (p.Ile1465=)
c.2691C>A (p.Ile897=)
2g.135804837A>CCA348595912LCTc.4394T>G (p.Ile1465Ser)
c.2690T>G (p.Ile897Ser)
2g.135804837A>GCA348595915LCTc.4394T>C (p.Ile1465Thr)
c.2690T>C (p.Ile897Thr)
2g.135804837A>TCA348595917LCTc.4394T>A (p.Ile1465Asn)
c.2690T>A (p.Ile897Asn)
2g.135804838T>ACA348595920LCTc.4393A>T (p.Ile1465Phe)
c.2689A>T (p.Ile897Phe)
2g.135804838T>CCA348595923LCTc.4393A>G (p.Ile1465Val)
c.2689A>G (p.Ile897Val)
 gnomAD v4
2g.135804838T>GCA348595925LCTc.4393A>C (p.Ile1465Leu)
c.2689A>C (p.Ile897Leu)
2g.135804839G>ACA429203019LCTc.4392C>T (p.Tyr1464=)
c.2688C>T (p.Tyr896=)
2g.135804839G>CCA348595929LCTc.4392C>G (p.Tyr1464Ter)
c.2688C>G (p.Tyr896Ter)
2g.135804839G>TCA348595930LCTc.4392C>A (p.Tyr1464Ter)
c.2688C>A (p.Tyr896Ter)
2g.135804840T>ACA348595931LCTc.4391A>T (p.Tyr1464Phe)
c.2687A>T (p.Tyr896Phe)
2g.135804840T>CCA348595932LCTc.4391A>G (p.Tyr1464Cys)
c.2687A>G (p.Tyr896Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.135804840T>GCA348595933LCTc.4391A>C (p.Tyr1464Ser)
c.2687A>C (p.Tyr896Ser)
2g.135804840T=CA1290829345LCTc.4391A= (p.Tyr1464=)
c.2687A= (p.Tyr896=)
2g.135804841A>CCA348595934LCTc.4390T>G (p.Tyr1464Asp)
c.2686T>G (p.Tyr896Asp)
2g.135804841A>GCA348595935LCTc.4390T>C (p.Tyr1464His)
c.2686T>C (p.Tyr896His)
2g.135804841A>TCA348595936LCTc.4390T>A (p.Tyr1464Asn)
c.2686T>A (p.Tyr896Asn)
2g.135804841dupCA2661274836LCTc.4390dup (p.Tyr1464LeufsTer4)
c.2686dup (p.Tyr896LeufsTer4)
 gnomAD v4
2g.135804842C>ACA348595938LCTc.4389G>T (p.Arg1463Ser)
c.2685G>T (p.Arg895Ser)
2g.135804842C=CA1290829346LCTc.4389G= (p.Arg1463=)
c.2685G= (p.Arg895=)
2g.135804842C>GCA348595937LCTc.4389G>C (p.Arg1463Ser)
c.2685G>C (p.Arg895Ser)
 gnomAD v4
2g.135804842C>TCA1887867LCTc.4389G>A (p.Arg1463=)
c.2685G>A (p.Arg895=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804843C>ACA348595939LCTc.4388G>T (p.Arg1463Met)
c.2684G>T (p.Arg895Met)
2g.135804843C>GCA348595940LCTc.4388G>C (p.Arg1463Thr)
c.2684G>C (p.Arg895Thr)
2g.135804843C>TCA348595941LCTc.4388G>A (p.Arg1463Lys)
c.2684G>A (p.Arg895Lys)
2g.135804844T>ACA348595942LCTc.4387A>T (p.Arg1463Trp)
c.2683A>T (p.Arg895Trp)
2g.135804844T>CCA348595943LCTc.4387A>G (p.Arg1463Gly)
c.2683A>G (p.Arg895Gly)
2g.135804844T>GCA429203020LCTc.4387A>C (p.Arg1463=)
c.2683A>C (p.Arg895=)
2g.135804845G>ACA429203021LCTc.4386C>T (p.Thr1462=)
c.2682C>T (p.Thr894=)
2g.135804845G>CCA429203022LCTc.4386C>G (p.Thr1462=)
c.2682C>G (p.Thr894=)
2g.135804845G>TCA429203023LCTc.4386C>A (p.Thr1462=)
c.2682C>A (p.Thr894=)
2g.135804846G>ACA348595946LCTc.4385C>T (p.Thr1462Ile)
c.2681C>T (p.Thr894Ile)
2g.135804846G>CCA348595944LCTc.4385C>G (p.Thr1462Ser)
c.2681C>G (p.Thr894Ser)
2g.135804846G>TCA348595945LCTc.4385C>A (p.Thr1462Asn)
c.2681C>A (p.Thr894Asn)
 gnomAD v4
2g.135804847T>ACA348595947LCTc.4384A>T (p.Thr1462Ser)
c.2680A>T (p.Thr894Ser)
2g.135804847T>CCA348595948LCTc.4384A>G (p.Thr1462Ala)
c.2680A>G (p.Thr894Ala)
2g.135804847T>GCA348595949LCTc.4384A>C (p.Thr1462Pro)
c.2680A>C (p.Thr894Pro)
2g.135804848G>ACA429203029LCTc.4383C>T (p.Thr1461=)
c.2679C>T (p.Thr893=)
2g.135804848G>CCA429203028LCTc.4383C>G (p.Thr1461=)
c.2679C>G (p.Thr893=)
2g.135804848G>TCA429203027LCTc.4383C>A (p.Thr1461=)
c.2679C>A (p.Thr893=)
2g.135804849G>ACA348595950LCTc.4382C>T (p.Thr1461Ile)
c.2678C>T (p.Thr893Ile)
 dbSNP
2g.135804849G>CCA348595951LCTc.4382C>G (p.Thr1461Ser)
c.2678C>G (p.Thr893Ser)
2g.135804849G=CA1290829347LCTc.4382C= (p.Thr1461=)
c.2678C= (p.Thr893=)
2g.135804849G>TCA348595952LCTc.4382C>A (p.Thr1461Asn)
c.2678C>A (p.Thr893Asn)
2g.135804850T>ACA348595953LCTc.4381A>T (p.Thr1461Ser)
c.2677A>T (p.Thr893Ser)
2g.135804850T>CCA348595954LCTc.4381A>G (p.Thr1461Ala)
c.2677A>G (p.Thr893Ala)
 gnomAD v4
2g.135804850T>GCA348595955LCTc.4381A>C (p.Thr1461Pro)
c.2677A>C (p.Thr893Pro)
 gnomAD v4
2g.135804851T>ACA429203033LCTc.4380A>T (p.Gly1460=)
c.2676A>T (p.Gly892=)
 ClinVar gnomAD v4
2g.135804851T>CCA429203034LCTc.4380A>G (p.Gly1460=)
c.2676A>G (p.Gly892=)
2g.135804851T>GCA429203035LCTc.4380A>C (p.Gly1460=)
c.2676A>C (p.Gly892=)
2g.135804852C>ACA348595956LCTc.4379G>T (p.Gly1460Val)
c.2675G>T (p.Gly892Val)
2g.135804852C>GCA348595957LCTc.4379G>C (p.Gly1460Ala)
c.2675G>C (p.Gly892Ala)
2g.135804852C>TCA348595958LCTc.4379G>A (p.Gly1460Glu)
c.2675G>A (p.Gly892Glu)
 gnomAD v4
2g.135804853C>ACA348595959LCTc.4378G>T (p.Gly1460Ter)
c.2674G>T (p.Gly892Ter)
2g.135804853C>GCA348595961LCTc.4378G>C (p.Gly1460Arg)
c.2674G>C (p.Gly892Arg)
2g.135804853C>TCA348595960LCTc.4378G>A (p.Gly1460Arg)
c.2674G>A (p.Gly892Arg)
2g.135804854A>CCA348595962LCTc.4377T>G (p.Asp1459Glu)
c.2673T>G (p.Asp891Glu)
2g.135804854A>GCA429203039LCTc.4377T>C (p.Asp1459=)
c.2673T>C (p.Asp891=)
2g.135804854A>TCA348595963LCTc.4377T>A (p.Asp1459Glu)
c.2673T>A (p.Asp891Glu)
 gnomAD v4
2g.135804855T>ACA348595964LCTc.4376A>T (p.Asp1459Val)
c.2672A>T (p.Asp891Val)
2g.135804855T>CCA348595965LCTc.4376A>G (p.Asp1459Gly)
c.2672A>G (p.Asp891Gly)
2g.135804855T>GCA348595966LCTc.4376A>C (p.Asp1459Ala)
c.2672A>C (p.Asp891Ala)
2g.135804856C>ACA348595967LCTc.4375G>T (p.Asp1459Tyr)
c.2671G>T (p.Asp891Tyr)
2g.135804856C=CA1290829348LCTc.4375G= (p.Asp1459=)
c.2671G= (p.Asp891=)
2g.135804856C>GCA1887868LCTc.4375G>C (p.Asp1459His)
c.2671G>C (p.Asp891His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804856C>TCA348595968LCTc.4375G>A (p.Asp1459Asn)
c.2671G>A (p.Asp891Asn)
 gnomAD v4
2g.135804857A>CCA429203040LCTc.4374T>G (p.Pro1458=)
c.2670T>G (p.Pro890=)
2g.135804857A>GCA429203042LCTc.4374T>C (p.Pro1458=)
c.2670T>C (p.Pro890=)
2g.135804857A>TCA429203043LCTc.4374T>A (p.Pro1458=)
c.2670T>A (p.Pro890=)
2g.135804858G>ACA348595969LCTc.4373C>T (p.Pro1458Leu)
c.2669C>T (p.Pro890Leu)
2g.135804858G>CCA348595970LCTc.4373C>G (p.Pro1458Arg)
c.2669C>G (p.Pro890Arg)
2g.135804858G>TCA348595971LCTc.4373C>A (p.Pro1458His)
c.2669C>A (p.Pro890His)
2g.135804859G>ACA348595974LCTc.4372C>T (p.Pro1458Ser)
c.2668C>T (p.Pro890Ser)
 COSMIC
2g.135804859G>CCA348595973LCTc.4372C>G (p.Pro1458Ala)
c.2668C>G (p.Pro890Ala)
2g.135804859G>TCA348595972LCTc.4372C>A (p.Pro1458Thr)
c.2668C>A (p.Pro890Thr)
 COSMIC
2g.135804860G>ACA429203045LCTc.4371C>T (p.Leu1457=)
c.2667C>T (p.Leu889=)
2g.135804860G>CCA429203047LCTc.4371C>G (p.Leu1457=)
c.2667C>G (p.Leu889=)
2g.135804860G>TCA429203049LCTc.4371C>A (p.Leu1457=)
c.2667C>A (p.Leu889=)
 dbSNP gnomAD v4
2g.135804861A>CCA348595975LCTc.4370T>G (p.Leu1457Arg)
c.2666T>G (p.Leu889Arg)
2g.135804861A>GCA348595976LCTc.4370T>C (p.Leu1457Pro)
c.2666T>C (p.Leu889Pro)
2g.135804861A>TCA348595977LCTc.4370T>A (p.Leu1457His)
c.2666T>A (p.Leu889His)
2g.135804862G>ACA348595978LCTc.4369C>T (p.Leu1457Phe)
c.2665C>T (p.Leu889Phe)
 dbSNP
2g.135804862G>CCA348595979LCTc.4369C>G (p.Leu1457Val)
c.2665C>G (p.Leu889Val)
2g.135804862G>TCA348595980LCTc.4369C>A (p.Leu1457Ile)
c.2665C>A (p.Leu889Ile)
2g.135804863G>ACA429203050LCTc.4368C>T (p.Ile1456=)
c.2664C>T (p.Ile888=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804863G>CCA348595981LCTc.4368C>G (p.Ile1456Met)
c.2664C>G (p.Ile888Met)
2g.135804863G=CA1290829349LCTc.4368C= (p.Ile1456=)
c.2664C= (p.Ile888=)
2g.135804863G>TCA429203051LCTc.4368C>A (p.Ile1456=)
c.2664C>A (p.Ile888=)
2g.135804864A=CA1290829350LCTc.4367T= (p.Ile1456=)
c.2663T= (p.Ile888=)
2g.135804864A>CCA348595982LCTc.4367T>G (p.Ile1456Ser)
c.2663T>G (p.Ile888Ser)
2g.135804864A>GCA1887869LCTc.4367T>C (p.Ile1456Thr)
c.2663T>C (p.Ile888Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804864A>TCA348595983LCTc.4367T>A (p.Ile1456Asn)
c.2663T>A (p.Ile888Asn)
2g.135804865T>ACA348595984LCTc.4366A>T (p.Ile1456Phe)
c.2662A>T (p.Ile888Phe)
2g.135804865T>CCA56609748LCTc.4366A>G (p.Ile1456Val)
c.2662A>G (p.Ile888Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804865T>GCA348595985LCTc.4366A>C (p.Ile1456Leu)
c.2662A>C (p.Ile888Leu)
2g.135804865T=CA1290829351LCTc.4366A= (p.Ile1456=)
c.2662A= (p.Ile888=)
2g.135804866G>ACA429203053LCTc.4365C>T (p.Arg1455=)
c.2661C>T (p.Arg887=)
 gnomAD v4
2g.135804866G>CCA429203055LCTc.4365C>G (p.Arg1455=)
c.2661C>G (p.Arg887=)
2g.135804866G>TCA429203056LCTc.4365C>A (p.Arg1455=)
c.2661C>A (p.Arg887=)
2g.135804867C>ACA348595987LCTc.4364G>T (p.Arg1455Leu)
c.2660G>T (p.Arg887Leu)
 gnomAD v4
2g.135804867C=CA1290829352LCTc.4364G= (p.Arg1455=)
c.2660G= (p.Arg887=)
2g.135804867C>GCA348595986LCTc.4364G>C (p.Arg1455Pro)
c.2660G>C (p.Arg887Pro)
2g.135804867C>TCA56609749LCTc.4364G>A (p.Arg1455His)
c.2660G>A (p.Arg887His)
 dbSNP gnomAD v4 COSMIC
2g.135804868G>ACA1887870LCTc.4363C>T (p.Arg1455Cys)
c.2659C>T (p.Arg887Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.135804868G>CCA348595988LCTc.4363C>G (p.Arg1455Gly)
c.2659C>G (p.Arg887Gly)
2g.135804868G=CA1290829353LCTc.4363C= (p.Arg1455=)
c.2659C= (p.Arg887=)
2g.135804868G>TCA348595989LCTc.4363C>A (p.Arg1455Ser)
c.2659C>A (p.Arg887Ser)
2g.135804869A=CA1290829354LCTc.4362T= (p.Ser1454=)
c.2658T= (p.Ser886=)
2g.135804869A>CCA1887871LCTc.4362T>G (p.Ser1454=)
c.2658T>G (p.Ser886=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804869A>GCA429203058LCTc.4362T>C (p.Ser1454=)
c.2658T>C (p.Ser886=)
2g.135804869A>TCA429203060LCTc.4362T>A (p.Ser1454=)
c.2658T>A (p.Ser886=)
2g.135804870G>ACA348595990LCTc.4361C>T (p.Ser1454Phe)
c.2657C>T (p.Ser886Phe)
2g.135804870G>CCA348595991LCTc.4361C>G (p.Ser1454Cys)
c.2657C>G (p.Ser886Cys)
2g.135804870G>TCA348595992LCTc.4361C>A (p.Ser1454Tyr)
c.2657C>A (p.Ser886Tyr)
2g.135804871A>CCA348595993LCTc.4360T>G (p.Ser1454Ala)
c.2656T>G (p.Ser886Ala)
2g.135804871A>GCA348595994LCTc.4360T>C (p.Ser1454Pro)
c.2656T>C (p.Ser886Pro)
2g.135804871A>TCA348595995LCTc.4360T>A (p.Ser1454Thr)
c.2656T>A (p.Ser886Thr)
2g.135804872C>ACA348595996LCTc.4359G>T (p.Trp1453Cys)
c.2655G>T (p.Trp885Cys)
 COSMIC
2g.135804872C>GCA348595997LCTc.4359G>C (p.Trp1453Cys)
c.2655G>C (p.Trp885Cys)
 gnomAD v4
2g.135804872C>TCA348595998LCTc.4359G>A (p.Trp1453Ter)
c.2655G>A (p.Trp885Ter)
2g.135804873C>ACA348595999LCTc.4358G>T (p.Trp1453Leu)
c.2654G>T (p.Trp885Leu)
2g.135804873C>GCA348596000LCTc.4358G>C (p.Trp1453Ser)
c.2654G>C (p.Trp885Ser)
2g.135804873C>TCA348596001LCTc.4358G>A (p.Trp1453Ter)
c.2654G>A (p.Trp885Ter)
2g.135804874A=CA1290829355LCTc.4357T= (p.Trp1453=)
c.2653T= (p.Trp885=)
2g.135804874A>CCA348596004LCTc.4357T>G (p.Trp1453Gly)
c.2653T>G (p.Trp885Gly)
 dbSNP
2g.135804874A>GCA348596003LCTc.4357T>C (p.Trp1453Arg)
c.2653T>C (p.Trp885Arg)
2g.135804874A>TCA348596002LCTc.4357T>A (p.Trp1453Arg)
c.2653T>A (p.Trp885Arg)
2g.135804875G>ACA1887872LCTc.4356C>T (p.Ser1452=)
c.2652C>T (p.Ser884=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804875G>CCA429203063LCTc.4356C>G (p.Ser1452=)
c.2652C>G (p.Ser884=)
2g.135804875G=CA1290829356LCTc.4356C= (p.Ser1452=)
c.2652C= (p.Ser884=)
2g.135804875G>TCA429203065LCTc.4356C>A (p.Ser1452=)
c.2652C>A (p.Ser884=)
2g.135804876G>ACA348596005LCTc.4355C>T (p.Ser1452Phe)
c.2651C>T (p.Ser884Phe)
 COSMIC
2g.135804876G>CCA348596006LCTc.4355C>G (p.Ser1452Cys)
c.2651C>G (p.Ser884Cys)
2g.135804876G>TCA348596007LCTc.4355C>A (p.Ser1452Tyr)
c.2651C>A (p.Ser884Tyr)
2g.135804877A>CCA348596008LCTc.4354T>G (p.Ser1452Ala)
c.2650T>G (p.Ser884Ala)
2g.135804877A>GCA348596009LCTc.4354T>C (p.Ser1452Pro)
c.2650T>C (p.Ser884Pro)
2g.135804877A>TCA348596010LCTc.4354T>A (p.Ser1452Thr)
c.2650T>A (p.Ser884Thr)
2g.135804878G>ACA429203068LCTc.4353C>T (p.Ile1451=)
c.2649C>T (p.Ile883=)
 ClinVar gnomAD v4
2g.135804878G>CCA348596011LCTc.4353C>G (p.Ile1451Met)
c.2649C>G (p.Ile883Met)
2g.135804878G>TCA429203069LCTc.4353C>A (p.Ile1451=)
c.2649C>A (p.Ile883=)
2g.135804879A=CA1290829357LCTc.4352T= (p.Ile1451=)
c.2648T= (p.Ile883=)
2g.135804879A>CCA348596012LCTc.4352T>G (p.Ile1451Ser)
c.2648T>G (p.Ile883Ser)
2g.135804879A>GCA348596013LCTc.4352T>C (p.Ile1451Thr)
c.2648T>C (p.Ile883Thr)
2g.135804879A>TCA348596014LCTc.4352T>A (p.Ile1451Asn)
c.2648T>A (p.Ile883Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804880T>ACA348596015LCTc.4351A>T (p.Ile1451Phe)
c.2647A>T (p.Ile883Phe)
2g.135804880T>CCA56609774LCTc.4351A>G (p.Ile1451Val)
c.2647A>G (p.Ile883Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804880T>GCA56609781LCTc.4351A>C (p.Ile1451Leu)
c.2647A>C (p.Ile883Leu)
 dbSNP
2g.135804880T=CA1290829358LCTc.4351A= (p.Ile1451=)
c.2647A= (p.Ile883=)
2g.135804881G>ACA429203071LCTc.4350C>T (p.Ser1450=)
c.2646C>T (p.Ser882=)
2g.135804881G>CCA429203072LCTc.4350C>G (p.Ser1450=)
c.2646C>G (p.Ser882=)
2g.135804881G>TCA429203073LCTc.4350C>A (p.Ser1450=)
c.2646C>A (p.Ser882=)
2g.135804882G>ACA348596017LCTc.4349C>T (p.Ser1450Phe)
c.2645C>T (p.Ser882Phe)
2g.135804882G>CCA348596018LCTc.4349C>G (p.Ser1450Cys)
c.2645C>G (p.Ser882Cys)
2g.135804882G=CA1290829359LCTc.4349C= (p.Ser1450=)
c.2645C= (p.Ser882=)
2g.135804882G>TCA348596016LCTc.4349C>A (p.Ser1450Tyr)
c.2645C>A (p.Ser882Tyr)
2g.135804883A>CCA348596019LCTc.4348T>G (p.Ser1450Ala)
c.2644T>G (p.Ser882Ala)
2g.135804883A>GCA348596020LCTc.4348T>C (p.Ser1450Pro)
c.2644T>C (p.Ser882Pro)
2g.135804883A>TCA348596021LCTc.4348T>A (p.Ser1450Thr)
c.2644T>A (p.Ser882Thr)
2g.135804887dupCA916658091LCTc.4348dup (p.Ser1450PhefsTer10)
c.2644dup (p.Ser882PhefsTer10)
 dbSNP
2g.135804884A=CA1290829360LCTc.4347T= (p.Phe1449=)
c.2643T= (p.Phe881=)
2g.135804884A>CCA348596022LCTc.4347T>G (p.Phe1449Leu)
c.2643T>G (p.Phe881Leu)
2g.135804884A>GCA1887873LCTc.4347T>C (p.Phe1449=)
c.2643T>C (p.Phe881=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804884A>TCA348596023LCTc.4347T>A (p.Phe1449Leu)
c.2643T>A (p.Phe881Leu)
2g.135804885A>CCA348596024LCTc.4346T>G (p.Phe1449Cys)
c.2642T>G (p.Phe881Cys)
2g.135804885A>GCA348596025LCTc.4346T>C (p.Phe1449Ser)
c.2642T>C (p.Phe881Ser)
2g.135804885A>TCA348596026LCTc.4346T>A (p.Phe1449Tyr)
c.2642T>A (p.Phe881Tyr)
2g.135804886A>CCA348596027LCTc.4345T>G (p.Phe1449Val)
c.2641T>G (p.Phe881Val)
2g.135804886A>GCA348596028LCTc.4345T>C (p.Phe1449Leu)
c.2641T>C (p.Phe881Leu)
2g.135804886A>TCA348596029LCTc.4345T>A (p.Phe1449Ile)
c.2641T>A (p.Phe881Ile)
2g.135804887A>CCA429203080LCTc.4344T>G (p.Arg1448=)
c.2640T>G (p.Arg880=)
2g.135804887A>GCA429203081LCTc.4344T>C (p.Arg1448=)
c.2640T>C (p.Arg880=)
2g.135804887A>TCA429203082LCTc.4344T>A (p.Arg1448=)
c.2640T>A (p.Arg880=)
2g.135804888C>ACA348596032LCTc.4343G>T (p.Arg1448Leu)
c.2639G>T (p.Arg880Leu)
2g.135804888C>GCA348596030LCTc.4343G>C (p.Arg1448Pro)
c.2639G>C (p.Arg880Pro)
2g.135804888C>TCA348596031LCTc.4343G>A (p.Arg1448His)
c.2639G>A (p.Arg880His)
 ClinVar gnomAD v4 COSMIC
2g.135804889G>ACA1887874LCTc.4342C>T (p.Arg1448Cys)
c.2638C>T (p.Arg880Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804889G>CCA348596033LCTc.4342C>G (p.Arg1448Gly)
c.2638C>G (p.Arg880Gly)
 dbSNP
2g.135804889G=CA1290829361LCTc.4342C= (p.Arg1448=)
c.2638C= (p.Arg880=)
2g.135804889G>TCA348596034LCTc.4342C>A (p.Arg1448Ser)
c.2638C>A (p.Arg880Ser)
 COSMIC
2g.135804890G>ACA1887875LCTc.4341C>T (p.Tyr1447=)
c.2637C>T (p.Tyr879=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804890G>CCA348596035LCTc.4341C>G (p.Tyr1447Ter)
c.2637C>G (p.Tyr879Ter)
2g.135804890G=CA1290829362LCTc.4341C= (p.Tyr1447=)
c.2637C= (p.Tyr879=)
2g.135804890G>TCA348596036LCTc.4341C>A (p.Tyr1447Ter)
c.2637C>A (p.Tyr879Ter)
2g.135804891T>ACA348596037LCTc.4340A>T (p.Tyr1447Phe)
c.2636A>T (p.Tyr879Phe)
2g.135804891T>CCA348596038LCTc.4340A>G (p.Tyr1447Cys)
c.2636A>G (p.Tyr879Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.135804891T>GCA348596039LCTc.4340A>C (p.Tyr1447Ser)
c.2636A>C (p.Tyr879Ser)
2g.135804891T=CA1290829363LCTc.4340A= (p.Tyr1447=)
c.2636A= (p.Tyr879=)
2g.135804892A>CCA348596040LCTc.4339T>G (p.Tyr1447Asp)
c.2635T>G (p.Tyr879Asp)
2g.135804892A>GCA348596041LCTc.4339T>C (p.Tyr1447His)
c.2635T>C (p.Tyr879His)
 gnomAD v4
2g.135804892A>TCA348596042LCTc.4339T>A (p.Tyr1447Asn)
c.2635T>A (p.Tyr879Asn)
2g.135804893G>ACA429203089LCTc.4338C>T (p.His1446=)
c.2634C>T (p.His878=)
2g.135804893G>CCA348596043LCTc.4338C>G (p.His1446Gln)
c.2634C>G (p.His878Gln)
2g.135804893G>TCA348596044LCTc.4338C>A (p.His1446Gln)
c.2634C>A (p.His878Gln)
2g.135804894T>ACA348596045LCTc.4337A>T (p.His1446Leu)
c.2633A>T (p.His878Leu)
2g.135804894T>CCA348596047LCTc.4337A>G (p.His1446Arg)
c.2633A>G (p.His878Arg)
 dbSNP
2g.135804894T>GCA348596046LCTc.4337A>C (p.His1446Pro)
c.2633A>C (p.His878Pro)
2g.135804894T=CA1290829364LCTc.4337A= (p.His1446=)
c.2633A= (p.His878=)
2g.135804895G>ACA348596048LCTc.4336C>T (p.His1446Tyr)
c.2632C>T (p.His878Tyr)
2g.135804895G>CCA348596049LCTc.4336C>G (p.His1446Asp)
c.2632C>G (p.His878Asp)
2g.135804895G>TCA348596050LCTc.4336C>A (p.His1446Asn)
c.2632C>A (p.His878Asn)
2g.135804896G>ACA429203091LCTc.4335C>T (p.Ser1445=)
c.2631C>T (p.Ser877=)
2g.135804896G>CCA429203092LCTc.4335C>G (p.Ser1445=)
c.2631C>G (p.Ser877=)
2g.135804896G>TCA429203093LCTc.4335C>A (p.Ser1445=)
c.2631C>A (p.Ser877=)
2g.135804897G>ACA348596051LCTc.4334C>T (p.Ser1445Phe)
c.2630C>T (p.Ser877Phe)
2g.135804897G>CCA348596052LCTc.4334C>G (p.Ser1445Cys)
c.2630C>G (p.Ser877Cys)
2g.135804897G>TCA348596053LCTc.4334C>A (p.Ser1445Tyr)
c.2630C>A (p.Ser877Tyr)
2g.135804898A>CCA348596054LCTc.4333T>G (p.Ser1445Ala)
c.2629T>G (p.Ser877Ala)
2g.135804898A>GCA348596055LCTc.4333T>C (p.Ser1445Pro)
c.2629T>C (p.Ser877Pro)
2g.135804898A>TCA348596056LCTc.4333T>A (p.Ser1445Thr)
c.2629T>A (p.Ser877Thr)
2g.135804899C>ACA429203094LCTc.4332G>T (p.Val1444=)
c.2628G>T (p.Val876=)
2g.135804899C>GCA429203096LCTc.4332G>C (p.Val1444=)
c.2628G>C (p.Val876=)
2g.135804899C>TCA429203095LCTc.4332G>A (p.Val1444=)
c.2628G>A (p.Val876=)
2g.135804900A>CCA348596057LCTc.4331T>G (p.Val1444Gly)
c.2627T>G (p.Val876Gly)
2g.135804900A>GCA348596058LCTc.4331T>C (p.Val1444Ala)
c.2627T>C (p.Val876Ala)
2g.135804900A>TCA348596059LCTc.4331T>A (p.Val1444Glu)
c.2627T>A (p.Val876Glu)
2g.135804901C>ACA348596061LCTc.4330G>T (p.Val1444Leu)
c.2626G>T (p.Val876Leu)
2g.135804901C=CA1290829365LCTc.4330G= (p.Val1444=)
c.2626G= (p.Val876=)
2g.135804901C>GCA348596060LCTc.4330G>C (p.Val1444Leu)
c.2626G>C (p.Val876Leu)
2g.135804901C>TCA1887876LCTc.4330G>A (p.Val1444Met)
c.2626G>A (p.Val876Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804902G>ACA1887877LCTc.4329C>T (p.Gly1443=)
c.2625C>T (p.Gly875=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804902G>CCA429203098LCTc.4329C>G (p.Gly1443=)
c.2625C>G (p.Gly875=)
2g.135804902G=CA1290829366LCTc.4329C= (p.Gly1443=)
c.2625C= (p.Gly875=)
2g.135804902G>TCA429203099LCTc.4329C>A (p.Gly1443=)
c.2625C>A (p.Gly875=)
 gnomAD v4
2g.135804903C>ACA348596062LCTc.4328G>T (p.Gly1443Val)
c.2624G>T (p.Gly875Val)
2g.135804903C=CA1290829367LCTc.4328G= (p.Gly1443=)
c.2624G= (p.Gly875=)
2g.135804903C>GCA348596063LCTc.4328G>C (p.Gly1443Ala)
c.2624G>C (p.Gly875Ala)
2g.135804903C>TCA1887878LCTc.4328G>A (p.Gly1443Asp)
c.2624G>A (p.Gly875Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135804904C>ACA348596064LCTc.4327G>T (p.Gly1443Cys)
c.2623G>T (p.Gly875Cys)
2g.135804904C=CA1290829368LCTc.4327G= (p.Gly1443=)
c.2623G= (p.Gly875=)
2g.135804904C>GCA348596065LCTc.4327G>C (p.Gly1443Arg)
c.2623G>C (p.Gly875Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135804904C>TCA348596066LCTc.4327G>A (p.Gly1443Ser)
c.2623G>A (p.Gly875Ser)
2g.135804905C>ACA429203100LCTc.4326G>T (p.Leu1442=)
c.2622G>T (p.Leu874=)
 gnomAD v4
2g.135804905C>GCA429203101LCTc.4326G>C (p.Leu1442=)
c.2622G>C (p.Leu874=)
2g.135804905C>TCA429203102LCTc.4326G>A (p.Leu1442=)
c.2622G>A (p.Leu874=)
2g.135804906A>CCA348596067LCTc.4325T>G (p.Leu1442Arg)
c.2621T>G (p.Leu874Arg)
2g.135804906A>GCA348596068LCTc.4325T>C (p.Leu1442Pro)
c.2621T>C (p.Leu874Pro)
2g.135804906A>TCA348596069LCTc.4325T>A (p.Leu1442Gln)
c.2621T>A (p.Leu874Gln)
2g.135804907G>ACA429203103LCTc.4324C>T (p.Leu1442=)
c.2620C>T (p.Leu874=)
 COSMIC
2g.135804907G>CCA348596070LCTc.4324C>G (p.Leu1442Val)
c.2620C>G (p.Leu874Val)
2g.135804907G>TCA348596071LCTc.4324C>A (p.Leu1442Met)
c.2620C>A (p.Leu874Met)
2g.135804908delCA2580063830LCTc.4324del (p.Leu1442TrpfsTer29)
c.2620del (p.Leu874TrpfsTer29)
 ClinVar
2g.135804908G>ACA429203104LCTc.4323C>T (p.Asn1441=)
c.2619C>T (p.Asn873=)
 gnomAD v4
2g.135804908G>CCA348596072LCTc.4323C>G (p.Asn1441Lys)
c.2619C>G (p.Asn873Lys)
2g.135804908G>TCA348596073LCTc.4323C>A (p.Asn1441Lys)
c.2619C>A (p.Asn873Lys)
 dbSNP
2g.135804909T>ACA348596074LCTc.4322A>T (p.Asn1441Ile)
c.2618A>T (p.Asn873Ile)
2g.135804909T>CCA348596075LCTc.4322A>G (p.Asn1441Ser)
c.2618A>G (p.Asn873Ser)
 dbSNP
2g.135804909T>GCA348596076LCTc.4322A>C (p.Asn1441Thr)
c.2618A>C (p.Asn873Thr)
2g.135804910T>ACA348596077LCTc.4321A>T (p.Asn1441Tyr)
c.2617A>T (p.Asn873Tyr)
2g.135804910T>CCA348596078LCTc.4321A>G (p.Asn1441Asp)
c.2617A>G (p.Asn873Asp)
2g.135804910T>GCA348596079LCTc.4321A>C (p.Asn1441His)
c.2617A>C (p.Asn873His)
2g.135804911C>ACA348596080LCTc.4320G>T (p.Gln1440His)
c.2616G>T (p.Gln872His)
2g.135804911C=CA1290829369LCTc.4320G= (p.Gln1440=)
c.2616G= (p.Gln872=)
2g.135804911C>GCA1887879LCTc.4320G>C (p.Gln1440His)
c.2616G>C (p.Gln872His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804911C>TCA429203105LCTc.4320G>A (p.Gln1440=)
c.2616G>A (p.Gln872=)
2g.135804912T>ACA348596081LCTc.4319A>T (p.Gln1440Leu)
c.2615A>T (p.Gln872Leu)
2g.135804912T>CCA348596082LCTc.4319A>G (p.Gln1440Arg)
c.2615A>G (p.Gln872Arg)
 gnomAD v4
2g.135804912T>GCA348596083LCTc.4319A>C (p.Gln1440Pro)
c.2615A>C (p.Gln872Pro)
2g.135804913G>ACA348596084LCTc.4318C>T (p.Gln1440Ter)
c.2614C>T (p.Gln872Ter)
2g.135804913G>CCA348596085LCTc.4318C>G (p.Gln1440Glu)
c.2614C>G (p.Gln872Glu)
2g.135804913G=CA1290829370LCTc.4318C= (p.Gln1440=)
c.2614C= (p.Gln872=)
2g.135804913G>TCA1887880LCTc.4318C>A (p.Gln1440Lys)
c.2614C>A (p.Gln872Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135804914C>ACA429203106LCTc.4317G>T (p.Leu1439=)
c.2613G>T (p.Leu871=)
2g.135804914C=CA1290829371LCTc.4317G= (p.Leu1439=)
c.2613G= (p.Leu871=)
2g.135804914C>GCA429203107LCTc.4317G>C (p.Leu1439=)
c.2613G>C (p.Leu871=)
2g.135804914C>TCA429203108LCTc.4317G>A (p.Leu1439=)
c.2613G>A (p.Leu871=)
 dbSNP gnomAD v3 gnomAD v4
2g.135804915A>CCA348596086LCTc.4316T>G (p.Leu1439Arg)
c.2612T>G (p.Leu871Arg)
2g.135804915A>GCA348596088LCTc.4316T>C (p.Leu1439Pro)
c.2612T>C (p.Leu871Pro)
2g.135804915A>TCA348596087LCTc.4316T>A (p.Leu1439Gln)
c.2612T>A (p.Leu871Gln)
2g.135804916G>ACA429203109LCTc.4315C>T (p.Leu1439=)
c.2611C>T (p.Leu871=)
 dbSNP gnomAD v2 gnomAD v4
2g.135804916G>CCA348596089LCTc.4315C>G (p.Leu1439Val)
c.2611C>G (p.Leu871Val)
2g.135804916G=CA1290829372LCTc.4315C= (p.Leu1439=)
c.2611C= (p.Leu871=)
2g.135804916G>TCA348596090LCTc.4315C>A (p.Leu1439Met)
c.2611C>A (p.Leu871Met)
2g.135804917G>ACA429203110LCTc.4314C>T (p.Thr1438=)
c.2610C>T (p.Thr870=)
 dbSNP gnomAD v3 gnomAD v4
2g.135804917G>CCA429203111LCTc.4314C>G (p.Thr1438=)
c.2610C>G (p.Thr870=)
2g.135804917G>TCA429203112LCTc.4314C>A (p.Thr1438=)
c.2610C>A (p.Thr870=)
2g.135804918G>ACA348596091LCTc.4313C>T (p.Thr1438Ile)
c.2609C>T (p.Thr870Ile)
2g.135804918G>CCA348596092LCTc.4313C>G (p.Thr1438Ser)
c.2609C>G (p.Thr870Ser)
2g.135804918G>TCA348596093LCTc.4313C>A (p.Thr1438Asn)
c.2609C>A (p.Thr870Asn)
2g.135804919T>ACA348596094LCTc.4312A>T (p.Thr1438Ser)
c.2608A>T (p.Thr870Ser)
2g.135804919T>CCA348596095LCTc.4312A>G (p.Thr1438Ala)
c.2608A>G (p.Thr870Ala)
 dbSNP
2g.135804919T>GCA348596096LCTc.4312A>C (p.Thr1438Pro)
c.2608A>C (p.Thr870Pro)
2g.135804919T=CA1290829373LCTc.4312A= (p.Thr1438=)
c.2608A= (p.Thr870=)
2g.135804920G>ACA429203113LCTc.4311C>T (p.Val1437=)
c.2607C>T (p.Val869=)
 gnomAD v4
2g.135804920G>CCA429203114LCTc.4311C>G (p.Val1437=)
c.2607C>G (p.Val869=)
2g.135804920G>TCA429203115LCTc.4311C>A (p.Val1437=)
c.2607C>A (p.Val869=)
2g.135804921A>CCA348596097LCTc.4310T>G (p.Val1437Gly)
c.2606T>G (p.Val869Gly)
2g.135804921A>GCA348596098LCTc.4310T>C (p.Val1437Ala)
c.2606T>C (p.Val869Ala)
2g.135804921A>TCA348596099LCTc.4310T>A (p.Val1437Asp)
c.2606T>A (p.Val869Asp)
2g.135804922C>ACA348596101LCTc.4309G>T (p.Val1437Phe)
c.2605G>T (p.Val869Phe)
2g.135804922C>GCA348596102LCTc.4309G>C (p.Val1437Leu)
c.2605G>C (p.Val869Leu)
2g.135804922C>TCA348596100LCTc.4309G>A (p.Val1437Ile)
c.2605G>A (p.Val869Ile)

Number of alleles fetched