Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.11880956G>ACA8894244GNALc.1231-33G>A (n.1231-33G>A)
c.1000-33G>A (n.1000-33G>A)
c.379-33G>A (n.379-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880956G=CA2284983230GNALc.1231-33G= (n.1231-33G=)
c.1000-33G= (n.1000-33G=)
c.379-33G= (n.379-33G=)
18g.11880956G>TCA2284983231GNALc.1231-33G>T (n.1231-33G>T)
c.1000-33G>T (n.1000-33G>T)
c.379-33G>T (n.379-33G>T)
 dbSNP
18g.11880957C=CA2284983232GNALc.1231-32C= (n.1231-32C=)
c.1000-32C= (n.1000-32C=)
c.379-32C= (n.379-32C=)
18g.11880957C>TCA628205913GNALc.1231-32C>T (n.1231-32C>T)
c.1000-32C>T (n.1000-32C>T)
c.379-32C>T (n.379-32C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.11880957_11880959delCA987867134GNALc.1231-32_1231-30del (n.1231-32_1231-30del)
c.1000-32_1000-30del (n.1000-32_1000-30del)
c.379-32_379-30del (n.379-32_379-30del)
 gnomAD v3 gnomAD v4
18g.11880958G>ACA8894245GNALc.1231-31G>A (n.1231-31G>A)
c.1000-31G>A (n.1000-31G>A)
c.379-31G>A (n.379-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880958G=CA2284983233GNALc.1231-31G= (n.1231-31G=)
c.1000-31G= (n.1000-31G=)
c.379-31G= (n.379-31G=)
18g.11880959C>ACA628205918GNALc.1231-30C>A (n.1231-30C>A)
c.1000-30C>A (n.1000-30C>A)
c.379-30C>A (n.379-30C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.11880959C=CA2284983234GNALc.1231-30C= (n.1231-30C=)
c.1000-30C= (n.1000-30C=)
c.379-30C= (n.379-30C=)
18g.11880961G>ACA2641033635GNALc.1231-28G>A (n.1231-28G>A)
c.1000-28G>A (n.1000-28G>A)
c.379-28G>A (n.379-28G>A)
 gnomAD v4
18g.11880961G>TCA2576457630GNALc.1231-28G>T (n.1231-28G>T)
c.1000-28G>T (n.1000-28G>T)
c.379-28G>T (n.379-28G>T)
18g.11880962G>ACA8894246GNALc.1231-27G>A (n.1231-27G>A)
c.1000-27G>A (n.1000-27G>A)
c.379-27G>A (n.379-27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880962G>CCA8894247GNALc.1231-27G>C (n.1231-27G>C)
c.1000-27G>C (n.1000-27G>C)
c.379-27G>C (n.379-27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880962G=CA2284983235GNALc.1231-27G= (n.1231-27G=)
c.1000-27G= (n.1000-27G=)
c.379-27G= (n.379-27G=)
18g.11880962G>TCA2641033636GNALc.1231-27G>T (n.1231-27G>T)
c.1000-27G>T (n.1000-27G>T)
c.379-27G>T (n.379-27G>T)
 gnomAD v4
18g.11880963G>ACA8894248GNALc.1231-26G>A (n.1231-26G>A)
c.1000-26G>A (n.1000-26G>A)
c.379-26G>A (n.379-26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880963G=CA2284983236GNALc.1231-26G= (n.1231-26G=)
c.1000-26G= (n.1000-26G=)
c.379-26G= (n.379-26G=)
18g.11880963G>TCA987867141GNALc.1231-26G>T (n.1231-26G>T)
c.1000-26G>T (n.1000-26G>T)
c.379-26G>T (n.379-26G>T)
 gnomAD v3 gnomAD v4
18g.11880964C>ACA2641033637GNALc.1231-25C>A (n.1231-25C>A)
c.1000-25C>A (n.1000-25C>A)
c.379-25C>A (n.379-25C>A)
 gnomAD v4
18g.11880966A=CA2284983237GNALc.1231-23A= (n.1231-23A=)
c.1000-23A= (n.1000-23A=)
c.379-23A= (n.379-23A=)
18g.11880966A>GCA2284983238GNALc.1231-23A>G (n.1231-23A>G)
c.1000-23A>G (n.1000-23A>G)
c.379-23A>G (n.379-23A>G)
 dbSNP
18g.11880967_11880971delCA987867148GNALc.1231-22_1231-18del (n.1231-22_1231-18del)
c.1000-22_1000-18del (n.1000-22_1000-18del)
c.379-22_379-18del (n.379-22_379-18del)
 gnomAD v3 gnomAD v4
18g.11880967G>ACA2576457631GNALc.1231-22G>A (n.1231-22G>A)
c.1000-22G>A (n.1000-22G>A)
c.379-22G>A (n.379-22G>A)
18g.11880968T>ACA8894250GNALc.1231-21T>A (n.1231-21T>A)
c.1000-21T>A (n.1000-21T>A)
c.379-21T>A (n.379-21T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880968T>CCA8894249GNALc.1231-21T>C (n.1231-21T>C)
c.1000-21T>C (n.1000-21T>C)
c.379-21T>C (n.379-21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880968T=CA2284983239GNALc.1231-21T= (n.1231-21T=)
c.1000-21T= (n.1000-21T=)
c.379-21T= (n.379-21T=)
18g.11880969G>ACA2740093965GNALc.1231-20G>A (n.1231-20G>A)
c.1000-20G>A (n.1000-20G>A)
c.379-20G>A (n.379-20G>A)
 ClinVar
18g.11880969G=CA2284983240GNALc.1231-20G= (n.1231-20G=)
c.1000-20G= (n.1000-20G=)
c.379-20G= (n.379-20G=)
18g.11880969G>TCA2284983241GNALc.1231-20G>T (n.1231-20G>T)
c.1000-20G>T (n.1000-20G>T)
c.379-20G>T (n.379-20G>T)
 dbSNP
18g.11880970C>GCA2641033638GNALc.1231-19C>G (n.1231-19C>G)
c.1000-19C>G (n.1000-19C>G)
c.379-19C>G (n.379-19C>G)
 gnomAD v4
18g.11880972C=CA2284983243GNALc.1231-17C= (n.1231-17C=)
c.1000-17C= (n.1000-17C=)
c.379-17C= (n.379-17C=)
18g.11880972C>GCA628205943GNALc.1231-17C>G (n.1231-17C>G)
c.1000-17C>G (n.1000-17C>G)
c.379-17C>G (n.379-17C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.11880972C>TCA2284983242GNALc.1231-17C>T (n.1231-17C>T)
c.1000-17C>T (n.1000-17C>T)
c.379-17C>T (n.379-17C>T)
 dbSNP
18g.11880974C=CA2284983244GNALc.1231-15C= (n.1231-15C=)
c.1000-15C= (n.1000-15C=)
c.379-15C= (n.379-15C=)
18g.11880974C>TCA8894251GNALc.1231-15C>T (n.1231-15C>T)
c.1000-15C>T (n.1000-15C>T)
c.379-15C>T (n.379-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880975_11880976delCA2576457632GNALc.1231-14_1231-13del (n.1231-14_1231-13del)
c.1000-14_1000-13del (n.1000-14_1000-13del)
c.379-14_379-13del (n.379-14_379-13del)
 gnomAD v4
18g.11880975G>ACA8894252GNALc.1231-14G>A (n.1231-14G>A)
c.1000-14G>A (n.1000-14G>A)
c.379-14G>A (n.379-14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880975G=CA2284983245GNALc.1231-14G= (n.1231-14G=)
c.1000-14G= (n.1000-14G=)
c.379-14G= (n.379-14G=)
18g.11880975G>TCA296058586GNALc.1231-14G>T (n.1231-14G>T)
c.1000-14G>T (n.1000-14G>T)
c.379-14G>T (n.379-14G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.11880975_11880977delinsGCTCA2284983246GNALc.1231-14_1231-12delinsGCT (n.1231-14_1231-12delinsGCT)
c.1000-14_1000-12delinsGCT (n.1000-14_1000-12delinsGCT)
c.379-14_379-12delinsGCT (n.379-14_379-12delinsGCT)
18g.11880976C=CA2284983247GNALc.1231-13C= (n.1231-13C=)
c.1000-13C= (n.1000-13C=)
c.379-13C= (n.379-13C=)
18g.11880976C>GCA8894254GNALc.1231-13C>G (n.1231-13C>G)
c.1000-13C>G (n.1000-13C>G)
c.379-13C>G (n.379-13C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880982_11880983delCA8894253GNALc.1231-7_1231-6del (n.1231-7_1231-6del)
c.1000-7_1000-6del (n.1000-7_1000-6del)
c.379-7_379-6del (n.379-7_379-6del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880977T>ACA2576457633GNALc.1231-12T>A (n.1231-12T>A)
c.1000-12T>A (n.1000-12T>A)
c.379-12T>A (n.379-12T>A)
18g.11880977T>CCA8894255GNALc.1231-12T>C (n.1231-12T>C)
c.1000-12T>C (n.1000-12T>C)
c.379-12T>C (n.379-12T>C)
 dbSNP ExAC gnomAD v4
18g.11880977T=CA2284983248GNALc.1231-12T= (n.1231-12T=)
c.1000-12T= (n.1000-12T=)
c.379-12T= (n.379-12T=)
18g.11880978C=CA2284983249GNALc.1231-11C= (n.1231-11C=)
c.1000-11C= (n.1000-11C=)
c.379-11C= (n.379-11C=)
18g.11880978C>GCA8894256GNALc.1231-11C>G (n.1231-11C>G)
c.1000-11C>G (n.1000-11C>G)
c.379-11C>G (n.379-11C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11880978C>TCA776156668GNALc.1231-11C>T (n.1231-11C>T)
c.1000-11C>T (n.1000-11C>T)
c.379-11C>T (n.379-11C>T)
 dbSNP gnomAD v4
18g.11880980C>GCA2641033639GNALc.1231-9C>G (n.1231-9C>G)
c.1000-9C>G (n.1000-9C>G)
c.379-9C>G (n.379-9C>G)
 gnomAD v4
18g.11880980C>TCA2641033640GNALc.1231-9C>T (n.1231-9C>T)
c.1000-9C>T (n.1000-9C>T)
c.379-9C>T (n.379-9C>T)
 gnomAD v4
18g.11880982C=CA2284983250GNALc.1231-7C= (n.1231-7C=)
c.1000-7C= (n.1000-7C=)
c.379-7C= (n.379-7C=)
18g.11880982C>TCA8894257GNALc.1231-7C>T (n.1231-7C>T)
c.1000-7C>T (n.1000-7C>T)
c.379-7C>T (n.379-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880983T>CCA2641033641GNALc.1231-6T>C (n.1231-6T>C)
c.1000-6T>C (n.1000-6T>C)
c.379-6T>C (n.379-6T>C)
 gnomAD v4
18g.11880985G>CCA2641033642GNALc.1231-4G>C (n.1231-4G>C)
c.1000-4G>C (n.1000-4G>C)
c.379-4G>C (n.379-4G>C)
 gnomAD v4
18g.11880987A>CCA401928129GNALc.1231-2A>C (n.1231-2A>C)
c.1000-2A>C (n.1000-2A>C)
c.379-2A>C (n.379-2A>C)
18g.11880987A>GCA401928127GNALc.1231-2A>G (n.1231-2A>G)
c.1000-2A>G (n.1000-2A>G)
c.379-2A>G (n.379-2A>G)
18g.11880987A>TCA401928128GNALc.1231-2A>T (n.1231-2A>T)
c.1000-2A>T (n.1000-2A>T)
c.379-2A>T (n.379-2A>T)
18g.11880988G>ACA401928130GNALc.1231-1G>A (n.1231-1G>A)
c.1000-1G>A (n.1000-1G>A)
c.379-1G>A (n.379-1G>A)
18g.11880988G>CCA401928131GNALc.1231-1G>C (n.1231-1G>C)
c.1000-1G>C (n.1000-1G>C)
c.379-1G>C (n.379-1G>C)
18g.11880988G>TCA401928132GNALc.1231-1G>T (n.1231-1G>T)
c.1000-1G>T (n.1000-1G>T)
c.379-1G>T (n.379-1G>T)
18g.11880989A>CCA502927768GNALc.1231A>C (p.Arg411=)
c.1000A>C (p.Arg334=)
c.379A>C (p.Arg127=)
18g.11880989A>GCA401928133GNALc.1231A>G (p.Arg411Gly)
c.1000A>G (p.Arg334Gly)
c.379A>G (p.Arg127Gly)
18g.11880989A>TCA401928134GNALc.1231A>T (p.Arg411Trp)
c.1000A>T (p.Arg334Trp)
c.379A>T (p.Arg127Trp)
18g.11880990G>ACA401928136GNALc.1232G>A (p.Arg411Lys)
c.1001G>A (p.Arg334Lys)
c.380G>A (p.Arg127Lys)
18g.11880990G>CCA8894258GNALc.1232G>C (p.Arg411Thr)
c.1001G>C (p.Arg334Thr)
c.380G>C (p.Arg127Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880990G=CA2284983251GNALc.1232G= (p.Arg411=)
c.1001G= (p.Arg334=)
c.380G= (p.Arg127=)
18g.11880990G>TCA401928135GNALc.1232G>T (p.Arg411Met)
c.1001G>T (p.Arg334Met)
c.380G>T (p.Arg127Met)
18g.11880991G>ACA502927769GNALc.1233G>A (p.Arg411=)
c.1002G>A (p.Arg334=)
c.381G>A (p.Arg127=)
18g.11880991G>CCA401928137GNALc.1233G>C (p.Arg411Ser)
c.1002G>C (p.Arg334Ser)
c.381G>C (p.Arg127Ser)
 gnomAD v4
18g.11880991G>TCA401928138GNALc.1233G>T (p.Arg411Ser)
c.1002G>T (p.Arg334Ser)
c.381G>T (p.Arg127Ser)
18g.11880992A>CCA401928139GNALc.1234A>C (p.Ile412Leu)
c.1003A>C (p.Ile335Leu)
c.382A>C (p.Ile128Leu)
18g.11880992A>GCA401928140GNALc.1234A>G (p.Ile412Val)
c.1003A>G (p.Ile335Val)
c.382A>G (p.Ile128Val)
18g.11880992A>TCA401928141GNALc.1234A>T (p.Ile412Phe)
c.1003A>T (p.Ile335Phe)
c.382A>T (p.Ile128Phe)
18g.11880993T>ACA401928142GNALc.1235T>A (p.Ile412Asn)
c.1004T>A (p.Ile335Asn)
c.383T>A (p.Ile128Asn)
18g.11880993T>CCA401928143GNALc.1235T>C (p.Ile412Thr)
c.1004T>C (p.Ile335Thr)
c.383T>C (p.Ile128Thr)
18g.11880993T>GCA401928144GNALc.1235T>G (p.Ile412Ser)
c.1004T>G (p.Ile335Ser)
c.383T>G (p.Ile128Ser)
18g.11880994C>ACA502927770GNALc.1236C>A (p.Ile412=)
c.1005C>A (p.Ile335=)
c.384C>A (p.Ile128=)
18g.11880994C=CA2284983252GNALc.1236C= (p.Ile412=)
c.1005C= (p.Ile335=)
c.384C= (p.Ile128=)
18g.11880994C>GCA401928145GNALc.1236C>G (p.Ile412Met)
c.1005C>G (p.Ile335Met)
c.384C>G (p.Ile128Met)
18g.11880994C>TCA8894259GNALc.1236C>T (p.Ile412=)
c.1005C>T (p.Ile335=)
c.384C>T (p.Ile128=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11880995A>CCA401928146GNALc.1237A>C (p.Ser413Arg)
c.1006A>C (p.Ser336Arg)
c.385A>C (p.Ser129Arg)
18g.11880995A>GCA401928147GNALc.1237A>G (p.Ser413Gly)
c.1006A>G (p.Ser336Gly)
c.385A>G (p.Ser129Gly)
18g.11880995A>TCA401928148GNALc.1237A>T (p.Ser413Cys)
c.1006A>T (p.Ser336Cys)
c.385A>T (p.Ser129Cys)
18g.11880996G>ACA401928151GNALc.1238G>A (p.Ser413Asn)
c.1007G>A (p.Ser336Asn)
c.386G>A (p.Ser129Asn)
18g.11880996G>CCA401928149GNALc.1238G>C (p.Ser413Thr)
c.1007G>C (p.Ser336Thr)
c.386G>C (p.Ser129Thr)
 gnomAD v4 COSMIC
18g.11880996G=CA2284983253GNALc.1238G= (p.Ser413=)
c.1007G= (p.Ser336=)
c.386G= (p.Ser129=)
18g.11880996G>TCA401928150GNALc.1238G>T (p.Ser413Ile)
c.1007G>T (p.Ser336Ile)
c.386G>T (p.Ser129Ile)
 dbSNP
18g.11880997C>ACA401928152GNALc.1239C>A (p.Ser413Arg)
c.1008C>A (p.Ser336Arg)
c.387C>A (p.Ser129Arg)
 gnomAD v4
18g.11880997C>GCA401928153GNALc.1239C>G (p.Ser413Arg)
c.1008C>G (p.Ser336Arg)
c.387C>G (p.Ser129Arg)
18g.11880997C>TCA502927771GNALc.1239C>T (p.Ser413=)
c.1008C>T (p.Ser336=)
c.387C>T (p.Ser129=)
 gnomAD v4
18g.11880998A>CCA401928154GNALc.1240A>C (p.Thr414Pro)
c.1009A>C (p.Thr337Pro)
c.388A>C (p.Thr130Pro)
18g.11880998A>GCA401928155GNALc.1240A>G (p.Thr414Ala)
c.1009A>G (p.Thr337Ala)
c.388A>G (p.Thr130Ala)
 gnomAD v4
18g.11880998A>TCA401928156GNALc.1240A>T (p.Thr414Ser)
c.1009A>T (p.Thr337Ser)
c.388A>T (p.Thr130Ser)
18g.11880999delCA502927772GNALc.1241del (p.Thr414ArgfsTer?)
c.1010del (p.Thr337ArgfsTer?)
c.389del (p.Thr130ArgfsTer?)
 COSMIC COSMIC
18g.11880999C>ACA401928157GNALc.1241C>A (p.Thr414Lys)
c.1010C>A (p.Thr337Lys)
c.389C>A (p.Thr130Lys)
18g.11880999C=CA2284983254GNALc.1241C= (p.Thr414=)
c.1010C= (p.Thr337=)
c.389C= (p.Thr130=)
18g.11880999C>GCA401928158GNALc.1241C>G (p.Thr414Arg)
c.1010C>G (p.Thr337Arg)
c.389C>G (p.Thr130Arg)
18g.11880999C>TCA401928159GNALc.1241C>T (p.Thr414Met)
c.1010C>T (p.Thr337Met)
c.389C>T (p.Thr130Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.11881000G>ACA8894260GNALc.1242G>A (p.Thr414=)
c.1011G>A (p.Thr337=)
c.390G>A (p.Thr130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.11881000G>CCA502927773GNALc.1242G>C (p.Thr414=)
c.1011G>C (p.Thr337=)
c.390G>C (p.Thr130=)
18g.11881000G=CA2284983255GNALc.1242G= (p.Thr414=)
c.1011G= (p.Thr337=)
c.390G= (p.Thr130=)
18g.11881000G>TCA502927774GNALc.1242G>T (p.Thr414=)
c.1011G>T (p.Thr337=)
c.390G>T (p.Thr130=)
18g.11881001G>ACA401928160GNALc.1243G>A (p.Ala415Thr)
c.1012G>A (p.Ala338Thr)
c.391G>A (p.Ala131Thr)
18g.11881001G>CCA401928161GNALc.1243G>C (p.Ala415Pro)
c.1012G>C (p.Ala338Pro)
c.391G>C (p.Ala131Pro)
18g.11881001G>TCA401928162GNALc.1243G>T (p.Ala415Ser)
c.1012G>T (p.Ala338Ser)
c.391G>T (p.Ala131Ser)
18g.11881002C>ACA401928163GNALc.1244C>A (p.Ala415Asp)
c.1013C>A (p.Ala338Asp)
c.392C>A (p.Ala131Asp)
 gnomAD v4
18g.11881002C>GCA401928164GNALc.1244C>G (p.Ala415Gly)
c.1013C>G (p.Ala338Gly)
c.392C>G (p.Ala131Gly)
18g.11881002C>TCA401928165GNALc.1244C>T (p.Ala415Val)
c.1013C>T (p.Ala338Val)
c.392C>T (p.Ala131Val)
18g.11881003C>ACA502927775GNALc.1245C>A (p.Ala415=)
c.1014C>A (p.Ala338=)
c.393C>A (p.Ala131=)
18g.11881003C=CA2284983256GNALc.1245C= (p.Ala415=)
c.1014C= (p.Ala338=)
c.393C= (p.Ala131=)
18g.11881003C>GCA502927776GNALc.1245C>G (p.Ala415=)
c.1014C>G (p.Ala338=)
c.393C>G (p.Ala131=)
18g.11881003C>TCA8894261GNALc.1245C>T (p.Ala415=)
c.1014C>T (p.Ala338=)
c.393C>T (p.Ala131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11881004A>CCA401928166GNALc.1246A>C (p.Thr416Pro)
c.1015A>C (p.Thr339Pro)
c.394A>C (p.Thr132Pro)
18g.11881004A>GCA401928167GNALc.1246A>G (p.Thr416Ala)
c.1015A>G (p.Thr339Ala)
c.394A>G (p.Thr132Ala)
18g.11881004A>TCA401928168GNALc.1246A>T (p.Thr416Ser)
c.1015A>T (p.Thr339Ser)
c.394A>T (p.Thr132Ser)
18g.11881005C>ACA401928169GNALc.1247C>A (p.Thr416Asn)
c.1016C>A (p.Thr339Asn)
c.395C>A (p.Thr132Asn)
18g.11881005C>GCA401928170GNALc.1247C>G (p.Thr416Ser)
c.1016C>G (p.Thr339Ser)
c.395C>G (p.Thr132Ser)
18g.11881005C>TCA401928171GNALc.1247C>T (p.Thr416Ile)
c.1016C>T (p.Thr339Ile)
c.395C>T (p.Thr132Ile)
18g.11881006C>ACA502927777GNALc.1248C>A (p.Thr416=)
c.1017C>A (p.Thr339=)
c.396C>A (p.Thr132=)
 dbSNP
18g.11881006C=CA2284983257GNALc.1248C= (p.Thr416=)
c.1017C= (p.Thr339=)
c.396C= (p.Thr132=)
18g.11881006C>GCA502927778GNALc.1248C>G (p.Thr416=)
c.1017C>G (p.Thr339=)
c.396C>G (p.Thr132=)
 dbSNP gnomAD v2 gnomAD v4
18g.11881006C>TCA8894262GNALc.1248C>T (p.Thr416=)
c.1017C>T (p.Thr339=)
c.396C>T (p.Thr132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11881007G>ACA8894263GNALc.1249G>A (p.Gly417Ser)
c.1018G>A (p.Gly340Ser)
c.397G>A (p.Gly133Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11881007G>CCA401928172GNALc.1249G>C (p.Gly417Arg)
c.1018G>C (p.Gly340Arg)
c.397G>C (p.Gly133Arg)
18g.11881007G=CA2284983258GNALc.1249G= (p.Gly417=)
c.1018G= (p.Gly340=)
c.397G= (p.Gly133=)
18g.11881007G>TCA401928173GNALc.1249G>T (p.Gly417Cys)
c.1018G>T (p.Gly340Cys)
c.397G>T (p.Gly133Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.11881008G>ACA401928174GNALc.1250G>A (p.Gly417Asp)
c.1019G>A (p.Gly340Asp)
c.398G>A (p.Gly133Asp)
18g.11881008G>CCA401928175GNALc.1250G>C (p.Gly417Ala)
c.1019G>C (p.Gly340Ala)
c.398G>C (p.Gly133Ala)
18g.11881008G>TCA401928176GNALc.1250G>T (p.Gly417Val)
c.1019G>T (p.Gly340Val)
c.398G>T (p.Gly133Val)
18g.11881009T>ACA502927779GNALc.1251T>A (p.Gly417=)
c.1020T>A (p.Gly340=)
c.399T>A (p.Gly133=)
18g.11881009T>CCA502927780GNALc.1251T>C (p.Gly417=)
c.1020T>C (p.Gly340=)
c.399T>C (p.Gly133=)
18g.11881009T>GCA502927781GNALc.1251T>G (p.Gly417=)
c.1020T>G (p.Gly340=)
c.399T>G (p.Gly133=)
18g.11881010G>ACA401928177GNALc.1252G>A (p.Asp418Asn)
c.1021G>A (p.Asp341Asn)
c.400G>A (p.Asp134Asn)
18g.11881010G>CCA401928179GNALc.1252G>C (p.Asp418His)
c.1021G>C (p.Asp341His)
c.400G>C (p.Asp134His)
18g.11881010G>TCA401928178GNALc.1252G>T (p.Asp418Tyr)
c.1021G>T (p.Asp341Tyr)
c.400G>T (p.Asp134Tyr)
18g.11881011A>CCA401928180GNALc.1253A>C (p.Asp418Ala)
c.1022A>C (p.Asp341Ala)
c.401A>C (p.Asp134Ala)
18g.11881011A>GCA401928182GNALc.1253A>G (p.Asp418Gly)
c.1022A>G (p.Asp341Gly)
c.401A>G (p.Asp134Gly)
18g.11881011A>TCA401928181GNALc.1253A>T (p.Asp418Val)
c.1022A>T (p.Asp341Val)
c.401A>T (p.Asp134Val)
 gnomAD v4
18g.11881012C>ACA401928183GNALc.1254C>A (p.Asp418Glu)
c.1023C>A (p.Asp341Glu)
c.402C>A (p.Asp134Glu)
18g.11881012C=CA2284983259GNALc.1254C= (p.Asp418=)
c.1023C= (p.Asp341=)
c.402C= (p.Asp134=)
18g.11881012C>GCA8894265GNALc.1254C>G (p.Asp418Glu)
c.1023C>G (p.Asp341Glu)
c.402C>G (p.Asp134Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11881012C>TCA8894264GNALc.1254C>T (p.Asp418=)
c.1023C>T (p.Asp341=)
c.402C>T (p.Asp134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11881013G>ACA8894266GNALc.1255G>A (p.Gly419Ser)
c.1024G>A (p.Gly342Ser)
c.403G>A (p.Gly135Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11881013G>CCA401928184GNALc.1255G>C (p.Gly419Arg)
c.1024G>C (p.Gly342Arg)
c.403G>C (p.Gly135Arg)
18g.11881013G=CA2284983260GNALc.1255G= (p.Gly419=)
c.1024G= (p.Gly342=)
c.403G= (p.Gly135=)
18g.11881013G>TCA401928185GNALc.1255G>T (p.Gly419Cys)
c.1024G>T (p.Gly342Cys)
c.403G>T (p.Gly135Cys)
18g.11881014G>ACA401928186GNALc.1256G>A (p.Gly419Asp)
c.1025G>A (p.Gly342Asp)
c.404G>A (p.Gly135Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.11881014G>CCA401928187GNALc.1256G>C (p.Gly419Ala)
c.1025G>C (p.Gly342Ala)
c.404G>C (p.Gly135Ala)
18g.11881014G=CA2284983261GNALc.1256G= (p.Gly419=)
c.1025G= (p.Gly342=)
c.404G= (p.Gly135=)
18g.11881014G>TCA401928188GNALc.1256G>T (p.Gly419Val)
c.1025G>T (p.Gly342Val)
c.404G>T (p.Gly135Val)
18g.11881015C>ACA502927782GNALc.1257C>A (p.Gly419=)
c.1026C>A (p.Gly342=)
c.405C>A (p.Gly135=)
18g.11881015C>GCA502927783GNALc.1257C>G (p.Gly419=)
c.1026C>G (p.Gly342=)
c.405C>G (p.Gly135=)
18g.11881015C>TCA502927784GNALc.1257C>T (p.Gly419=)
c.1026C>T (p.Gly342=)
c.405C>T (p.Gly135=)
18g.11881016A>CCA401928189GNALc.1258A>C (p.Lys420Gln)
c.1027A>C (p.Lys343Gln)
c.406A>C (p.Lys136Gln)
18g.11881016A>GCA401928190GNALc.1258A>G (p.Lys420Glu)
c.1027A>G (p.Lys343Glu)
c.406A>G (p.Lys136Glu)
18g.11881016A>TCA401928191GNALc.1258A>T (p.Lys420Ter)
c.1027A>T (p.Lys343Ter)
c.406A>T (p.Lys136Ter)
18g.11881017A>CCA401928192GNALc.1259A>C (p.Lys420Thr)
c.1028A>C (p.Lys343Thr)
c.407A>C (p.Lys136Thr)
18g.11881017A>GCA401928194GNALc.1259A>G (p.Lys420Arg)
c.1028A>G (p.Lys343Arg)
c.407A>G (p.Lys136Arg)
18g.11881017A>TCA401928193GNALc.1259A>T (p.Lys420Ile)
c.1028A>T (p.Lys343Ile)
c.407A>T (p.Lys136Ile)
18g.11881018A>CCA401928195GNALc.1260A>C (p.Lys420Asn)
c.1029A>C (p.Lys343Asn)
c.408A>C (p.Lys136Asn)
18g.11881018A>GCA502927785GNALc.1260A>G (p.Lys420=)
c.1029A>G (p.Lys343=)
c.408A>G (p.Lys136=)
18g.11881018A>TCA401928196GNALc.1260A>T (p.Lys420Asn)
c.1029A>T (p.Lys343Asn)
c.408A>T (p.Lys136Asn)
18g.11881019C>ACA401928197GNALc.1261C>A (p.His421Asn)
c.1030C>A (p.His344Asn)
c.409C>A (p.His137Asn)
18g.11881019C=CA2284983262GNALc.1261C= (p.His421=)
c.1030C= (p.His344=)
c.409C= (p.His137=)
18g.11881019C>GCA8894267GNALc.1261C>G (p.His421Asp)
c.1030C>G (p.His344Asp)
c.409C>G (p.His137Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11881019C>TCA401928198GNALc.1261C>T (p.His421Tyr)
c.1030C>T (p.His344Tyr)
c.409C>T (p.His137Tyr)
18g.11881020A>CCA401928199GNALc.1262A>C (p.His421Pro)
c.1031A>C (p.His344Pro)
c.410A>C (p.His137Pro)
18g.11881020A>GCA401928200GNALc.1262A>G (p.His421Arg)
c.1031A>G (p.His344Arg)
c.410A>G (p.His137Arg)
18g.11881020A>TCA401928201GNALc.1262A>T (p.His421Leu)
c.1031A>T (p.His344Leu)
c.410A>T (p.His137Leu)
18g.11881021T>ACA401928202GNALc.1263T>A (p.His421Gln)
c.1032T>A (p.His344Gln)
c.411T>A (p.His137Gln)
18g.11881021T>CCA502927786GNALc.1263T>C (p.His421=)
c.1032T>C (p.His344=)
c.411T>C (p.His137=)
18g.11881021T>GCA401928203GNALc.1263T>G (p.His421Gln)
c.1032T>G (p.His344Gln)
c.411T>G (p.His137Gln)
18g.11881022T>ACA401928205GNALc.1264T>A (p.Tyr422Asn)
c.1033T>A (p.Tyr345Asn)
c.412T>A (p.Tyr138Asn)
18g.11881022T>CCA401928206GNALc.1264T>C (p.Tyr422His)
c.1033T>C (p.Tyr345His)
c.412T>C (p.Tyr138His)
18g.11881022T>GCA401928204GNALc.1264T>G (p.Tyr422Asp)
c.1033T>G (p.Tyr345Asp)
c.412T>G (p.Tyr138Asp)
18g.11881023A>CCA401928207GNALc.1265A>C (p.Tyr422Ser)
c.1034A>C (p.Tyr345Ser)
c.413A>C (p.Tyr138Ser)
18g.11881023A>GCA401928208GNALc.1265A>G (p.Tyr422Cys)
c.1034A>G (p.Tyr345Cys)
c.413A>G (p.Tyr138Cys)
18g.11881023A>TCA401928209GNALc.1265A>T (p.Tyr422Phe)
c.1034A>T (p.Tyr345Phe)
c.413A>T (p.Tyr138Phe)
18g.11881024C>ACA401928210GNALc.1266C>A (p.Tyr422Ter)
c.1035C>A (p.Tyr345Ter)
c.414C>A (p.Tyr138Ter)
18g.11881024C>GCA401928211GNALc.1266C>G (p.Tyr422Ter)
c.1035C>G (p.Tyr345Ter)
c.414C>G (p.Tyr138Ter)
18g.11881024C>TCA502927787GNALc.1266C>T (p.Tyr422=)
c.1035C>T (p.Tyr345=)
c.414C>T (p.Tyr138=)
 gnomAD v4
18g.11881025T>ACA401928212GNALc.1267T>A (p.Cys423Ser)
c.1036T>A (p.Cys346Ser)
c.415T>A (p.Cys139Ser)
18g.11881025T>CCA401928213GNALc.1267T>C (p.Cys423Arg)
c.1036T>C (p.Cys346Arg)
c.415T>C (p.Cys139Arg)
18g.11881025T>GCA401928214GNALc.1267T>G (p.Cys423Gly)
c.1036T>G (p.Cys346Gly)
c.415T>G (p.Cys139Gly)
18g.11881026G>ACA401928215GNALc.1268G>A (p.Cys423Tyr)
c.1037G>A (p.Cys346Tyr)
c.416G>A (p.Cys139Tyr)
18g.11881026G>CCA401928216GNALc.1268G>C (p.Cys423Ser)
c.1037G>C (p.Cys346Ser)
c.416G>C (p.Cys139Ser)
18g.11881026G>TCA401928217GNALc.1268G>T (p.Cys423Phe)
c.1037G>T (p.Cys346Phe)
c.416G>T (p.Cys139Phe)
18g.11881027C>ACA401928218GNALc.1269C>A (p.Cys423Ter)
c.1038C>A (p.Cys346Ter)
c.417C>A (p.Cys139Ter)
18g.11881027C>GCA401928219GNALc.1269C>G (p.Cys423Trp)
c.1038C>G (p.Cys346Trp)
c.417C>G (p.Cys139Trp)
18g.11881027C>TCA502927788GNALc.1269C>T (p.Cys423=)
c.1038C>T (p.Cys346=)
c.417C>T (p.Cys139=)
18g.11881028T>ACA401928222GNALc.1270T>A (p.Tyr424Asn)
c.1039T>A (p.Tyr347Asn)
c.418T>A (p.Tyr140Asn)
18g.11881028T>CCA401928221GNALc.1270T>C (p.Tyr424His)
c.1039T>C (p.Tyr347His)
c.418T>C (p.Tyr140His)
18g.11881028T>GCA401928220GNALc.1270T>G (p.Tyr424Asp)
c.1039T>G (p.Tyr347Asp)
c.418T>G (p.Tyr140Asp)
18g.11881029A=CA2284983263GNALc.1271A= (p.Tyr424=)
c.1040A= (p.Tyr347=)
c.419A= (p.Tyr140=)
18g.11881029A>CCA401928223GNALc.1271A>C (p.Tyr424Ser)
c.1040A>C (p.Tyr347Ser)
c.419A>C (p.Tyr140Ser)
 dbSNP
18g.11881029A>GCA401928224GNALc.1271A>G (p.Tyr424Cys)
c.1040A>G (p.Tyr347Cys)
c.419A>G (p.Tyr140Cys)
18g.11881029A>TCA401928225GNALc.1271A>T (p.Tyr424Phe)
c.1040A>T (p.Tyr347Phe)
c.419A>T (p.Tyr140Phe)
18g.11881030C>ACA401928226GNALc.1272C>A (p.Tyr424Ter)
c.1041C>A (p.Tyr347Ter)
c.420C>A (p.Tyr140Ter)
18g.11881030C>GCA401928227GNALc.1272C>G (p.Tyr424Ter)
c.1041C>G (p.Tyr347Ter)
c.420C>G (p.Tyr140Ter)
18g.11881030C>TCA502927789GNALc.1272C>T (p.Tyr424=)
c.1041C>T (p.Tyr347=)
c.420C>T (p.Tyr140=)
18g.11881031C>ACA401928228GNALc.1273C>A (p.Pro425Thr)
c.1042C>A (p.Pro348Thr)
c.421C>A (p.Pro141Thr)
18g.11881031C=CA2284983264GNALc.1273C= (p.Pro425=)
c.1042C= (p.Pro348=)
c.421C= (p.Pro141=)
18g.11881031C>GCA401928229GNALc.1273C>G (p.Pro425Ala)
c.1042C>G (p.Pro348Ala)
c.421C>G (p.Pro141Ala)
 dbSNP
18g.11881031C>TCA401928230GNALc.1273C>T (p.Pro425Ser)
c.1042C>T (p.Pro348Ser)
c.421C>T (p.Pro141Ser)
18g.11881032C>ACA401928231GNALc.1274C>A (p.Pro425Gln)
c.1043C>A (p.Pro348Gln)
c.422C>A (p.Pro141Gln)
 ClinVar dbSNP gnomAD v4
18g.11881032C=CA2284983265GNALc.1274C= (p.Pro425=)
c.1043C= (p.Pro348=)
c.422C= (p.Pro141=)
18g.11881032C>GCA401928232GNALc.1274C>G (p.Pro425Arg)
c.1043C>G (p.Pro348Arg)
c.422C>G (p.Pro141Arg)
18g.11881032C>TCA8894268GNALc.1274C>T (p.Pro425Leu)
c.1043C>T (p.Pro348Leu)
c.422C>T (p.Pro141Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11881033G>ACA8894269GNALc.1275G>A (p.Pro425=)
c.1044G>A (p.Pro348=)
c.423G>A (p.Pro141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11881033G>CCA502927790GNALc.1275G>C (p.Pro425=)
c.1044G>C (p.Pro348=)
c.423G>C (p.Pro141=)
 dbSNP gnomAD v2
18g.11881033G=CA2284983266GNALc.1275G= (p.Pro425=)
c.1044G= (p.Pro348=)
c.423G= (p.Pro141=)
18g.11881033G>TCA502927791GNALc.1275G>T (p.Pro425=)
c.1044G>T (p.Pro348=)
c.423G>T (p.Pro141=)
18g.11881034C>ACA401928235GNALc.1276C>A (p.His426Asn)
c.1045C>A (p.His349Asn)
c.424C>A (p.His142Asn)
18g.11881034C>GCA401928234GNALc.1276C>G (p.His426Asp)
c.1045C>G (p.His349Asp)
c.424C>G (p.His142Asp)
18g.11881034C>TCA401928233GNALc.1276C>T (p.His426Tyr)
c.1045C>T (p.His349Tyr)
c.424C>T (p.His142Tyr)
18g.11881035A>CCA401928236GNALc.1277A>C (p.His426Pro)
c.1046A>C (p.His349Pro)
c.425A>C (p.His142Pro)
18g.11881035A>GCA401928238GNALc.1277A>G (p.His426Arg)
c.1046A>G (p.His349Arg)
c.425A>G (p.His142Arg)
 dbSNP
18g.11881035A>TCA401928237GNALc.1277A>T (p.His426Leu)
c.1046A>T (p.His349Leu)
c.425A>T (p.His142Leu)
18g.11881036C>ACA401928239GNALc.1278C>A (p.His426Gln)
c.1047C>A (p.His349Gln)
c.426C>A (p.His142Gln)
18g.11881036C>GCA401928240GNALc.1278C>G (p.His426Gln)
c.1047C>G (p.His349Gln)
c.426C>G (p.His142Gln)
18g.11881036C>TCA502927792GNALc.1278C>T (p.His426=)
c.1047C>T (p.His349=)
c.426C>T (p.His142=)
 gnomAD v4
18g.11881037T>ACA401928241GNALc.1279T>A (p.Phe427Ile)
c.1048T>A (p.Phe350Ile)
c.427T>A (p.Phe143Ile)
18g.11881037T>CCA401928242GNALc.1279T>C (p.Phe427Leu)
c.1048T>C (p.Phe350Leu)
c.427T>C (p.Phe143Leu)
18g.11881037T>GCA401928243GNALc.1279T>G (p.Phe427Val)
c.1048T>G (p.Phe350Val)
c.427T>G (p.Phe143Val)
18g.11881038T>ACA401928246GNALc.1280T>A (p.Phe427Tyr)
c.1049T>A (p.Phe350Tyr)
c.428T>A (p.Phe143Tyr)
18g.11881038T>CCA401928245GNALc.1280T>C (p.Phe427Ser)
c.1049T>C (p.Phe350Ser)
c.428T>C (p.Phe143Ser)
18g.11881038T>GCA401928244GNALc.1280T>G (p.Phe427Cys)
c.1049T>G (p.Phe350Cys)
c.428T>G (p.Phe143Cys)
18g.11881039C>ACA401928247GNALc.1281C>A (p.Phe427Leu)
c.1050C>A (p.Phe350Leu)
c.429C>A (p.Phe143Leu)
18g.11881039C=CA2284983267GNALc.1281C= (p.Phe427=)
c.1050C= (p.Phe350=)
c.429C= (p.Phe143=)
18g.11881039C>GCA401928248GNALc.1281C>G (p.Phe427Leu)
c.1050C>G (p.Phe350Leu)
c.429C>G (p.Phe143Leu)
18g.11881039C>TCA8894270GNALc.1281C>T (p.Phe427=)
c.1050C>T (p.Phe350=)
c.429C>T (p.Phe143=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.11881040A=CA2284983268GNALc.1282A= (p.Thr428=)
c.1051A= (p.Thr351=)
c.430A= (p.Thr144=)
18g.11881040A>CCA401928249GNALc.1282A>C (p.Thr428Pro)
c.1051A>C (p.Thr351Pro)
c.430A>C (p.Thr144Pro)
 dbSNP
18g.11881040A>GCA401928250GNALc.1282A>G (p.Thr428Ala)
c.1051A>G (p.Thr351Ala)
c.430A>G (p.Thr144Ala)
18g.11881040A>TCA401928251GNALc.1282A>T (p.Thr428Ser)
c.1051A>T (p.Thr351Ser)
c.430A>T (p.Thr144Ser)
18g.11881041C>ACA401928254GNALc.1283C>A (p.Thr428Asn)
c.1052C>A (p.Thr351Asn)
c.431C>A (p.Thr144Asn)
18g.11881041C>GCA401928252GNALc.1283C>G (p.Thr428Ser)
c.1052C>G (p.Thr351Ser)
c.431C>G (p.Thr144Ser)
18g.11881041C>TCA401928253GNALc.1283C>T (p.Thr428Ile)
c.1052C>T (p.Thr351Ile)
c.431C>T (p.Thr144Ile)
18g.11881042C>ACA502927793GNALc.1284C>A (p.Thr428=)
c.1053C>A (p.Thr351=)
c.432C>A (p.Thr144=)
18g.11881042C>GCA502927794GNALc.1284C>G (p.Thr428=)
c.1053C>G (p.Thr351=)
c.432C>G (p.Thr144=)
18g.11881042C>TCA502927795GNALc.1284C>T (p.Thr428=)
c.1053C>T (p.Thr351=)
c.432C>T (p.Thr144=)
18g.11881043T>ACA401928255GNALc.1285T>A (p.Cys429Ser)
c.1054T>A (p.Cys352Ser)
c.433T>A (p.Cys145Ser)
18g.11881043T>CCA401928256GNALc.1285T>C (p.Cys429Arg)
c.1054T>C (p.Cys352Arg)
c.433T>C (p.Cys145Arg)
18g.11881043T>GCA401928257GNALc.1285T>G (p.Cys429Gly)
c.1054T>G (p.Cys352Gly)
c.433T>G (p.Cys145Gly)
18g.11881044G>ACA401928258GNALc.1286G>A (p.Cys429Tyr)
c.1055G>A (p.Cys352Tyr)
c.434G>A (p.Cys145Tyr)
18g.11881044G>CCA401928259GNALc.1286G>C (p.Cys429Ser)
c.1055G>C (p.Cys352Ser)
c.434G>C (p.Cys145Ser)
18g.11881044G>TCA401928260GNALc.1286G>T (p.Cys429Phe)
c.1055G>T (p.Cys352Phe)
c.434G>T (p.Cys145Phe)
18g.11881045C>ACA401928261GNALc.1287C>A (p.Cys429Ter)
c.1056C>A (p.Cys352Ter)
c.435C>A (p.Cys145Ter)
18g.11881045C=CA2284983269GNALc.1287C= (p.Cys429=)
c.1056C= (p.Cys352=)
c.435C= (p.Cys145=)
18g.11881045C>GCA401928262GNALc.1287C>G (p.Cys429Trp)
c.1056C>G (p.Cys352Trp)
c.435C>G (p.Cys145Trp)
18g.11881045C>TCA8894271GNALc.1287C>T (p.Cys429=)
c.1056C>T (p.Cys352=)
c.435C>T (p.Cys145=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.11881046G>ACA401928263GNALc.1288G>A (p.Ala430Thr)
c.1057G>A (p.Ala353Thr)
c.436G>A (p.Ala146Thr)
 ClinVar dbSNP gnomAD v4
18g.11881046G>CCA401928264GNALc.1288G>C (p.Ala430Pro)
c.1057G>C (p.Ala353Pro)
c.436G>C (p.Ala146Pro)
18g.11881046G=CA2284983270GNALc.1288G= (p.Ala430=)
c.1057G= (p.Ala353=)
c.436G= (p.Ala146=)
18g.11881046G>TCA401928265GNALc.1288G>T (p.Ala430Ser)
c.1057G>T (p.Ala353Ser)
c.436G>T (p.Ala146Ser)
18g.11881047C>ACA401928266GNALc.1289C>A (p.Ala430Asp)
c.1058C>A (p.Ala353Asp)
c.437C>A (p.Ala146Asp)
18g.11881047C>GCA401928268GNALc.1289C>G (p.Ala430Gly)
c.1058C>G (p.Ala353Gly)
c.437C>G (p.Ala146Gly)
18g.11881047C>TCA401928267GNALc.1289C>T (p.Ala430Val)
c.1058C>T (p.Ala353Val)
c.437C>T (p.Ala146Val)
18g.11881048C>ACA502927796GNALc.1290C>A (p.Ala430=)
c.1059C>A (p.Ala353=)
c.438C>A (p.Ala146=)
18g.11881048C=CA2284983271GNALc.1290C= (p.Ala430=)
c.1059C= (p.Ala353=)
c.438C= (p.Ala146=)
18g.11881048C>GCA502927797GNALc.1290C>G (p.Ala430=)
c.1059C>G (p.Ala353=)
c.438C>G (p.Ala146=)
18g.11881048C>TCA8894272GNALc.1290C>T (p.Ala430=)
c.1059C>T (p.Ala353=)
c.438C>T (p.Ala146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.11881049G>ACA16620660GNALc.1291G>A (p.Val431Met)
c.1060G>A (p.Val354Met)
c.439G>A (p.Val147Met)
 ClinVar dbSNP COSMIC
18g.11881049G>CCA401928269GNALc.1291G>C (p.Val431Leu)
c.1060G>C (p.Val354Leu)
c.439G>C (p.Val147Leu)
18g.11881049G=CA2284983272GNALc.1291G= (p.Val431=)
c.1060G= (p.Val354=)
c.439G= (p.Val147=)
18g.11881049G>TCA401928270GNALc.1291G>T (p.Val431Leu)
c.1060G>T (p.Val354Leu)
c.439G>T (p.Val147Leu)
18g.11881050T>ACA401928271GNALc.1292T>A (p.Val431Glu)
c.1061T>A (p.Val354Glu)
c.440T>A (p.Val147Glu)
18g.11881050T>CCA401928272GNALc.1292T>C (p.Val431Ala)
c.1061T>C (p.Val354Ala)
c.440T>C (p.Val147Ala)
 ClinVar
18g.11881050T>GCA401928273GNALc.1292T>G (p.Val431Gly)
c.1061T>G (p.Val354Gly)
c.440T>G (p.Val147Gly)
18g.11881051G>ACA502927798GNALc.1293G>A (p.Val431=)
c.1062G>A (p.Val354=)
c.441G>A (p.Val147=)
18g.11881051G>CCA502927799GNALc.1293G>C (p.Val431=)
c.1062G>C (p.Val354=)
c.441G>C (p.Val147=)
18g.11881051G>TCA502927800GNALc.1293G>T (p.Val431=)
c.1062G>T (p.Val354=)
c.441G>T (p.Val147=)
18g.11881052G>ACA401928274GNALc.1294G>A (p.Asp432Asn)
c.1063G>A (p.Asp355Asn)
c.442G>A (p.Asp148Asn)
18g.11881052G>CCA401928275GNALc.1294G>C (p.Asp432His)
c.1063G>C (p.Asp355His)
c.442G>C (p.Asp148His)
18g.11881052G>TCA401928276GNALc.1294G>T (p.Asp432Tyr)
c.1063G>T (p.Asp355Tyr)
c.442G>T (p.Asp148Tyr)
18g.11881053A>CCA401928277GNALc.1295A>C (p.Asp432Ala)
c.1064A>C (p.Asp355Ala)
c.443A>C (p.Asp148Ala)
18g.11881053A>GCA401928278GNALc.1295A>G (p.Asp432Gly)
c.1064A>G (p.Asp355Gly)
c.443A>G (p.Asp148Gly)
18g.11881053A>TCA401928279GNALc.1295A>T (p.Asp432Val)
c.1064A>T (p.Asp355Val)
c.443A>T (p.Asp148Val)
18g.11881054C>ACA401928280GNALc.1296C>A (p.Asp432Glu)
c.1065C>A (p.Asp355Glu)
c.444C>A (p.Asp148Glu)
18g.11881054C>GCA401928281GNALc.1296C>G (p.Asp432Glu)
c.1065C>G (p.Asp355Glu)
c.444C>G (p.Asp148Glu)
18g.11881054C>TCA502927801GNALc.1296C>T (p.Asp432=)
c.1065C>T (p.Asp355=)
c.444C>T (p.Asp148=)
 gnomAD v4
18g.11881055A>CCA401928282GNALc.1297A>C (p.Thr433Pro)
c.1066A>C (p.Thr356Pro)
c.445A>C (p.Thr149Pro)
18g.11881055A>GCA401928283GNALc.1297A>G (p.Thr433Ala)
c.1066A>G (p.Thr356Ala)
c.445A>G (p.Thr149Ala)
18g.11881055A>TCA401928284GNALc.1297A>T (p.Thr433Ser)
c.1066A>T (p.Thr356Ser)
c.445A>T (p.Thr149Ser)
18g.11881056C>ACA401928285GNALc.1298C>A (p.Thr433Lys)
c.1067C>A (p.Thr356Lys)
c.446C>A (p.Thr149Lys)
18g.11881056C>GCA401928286GNALc.1298C>G (p.Thr433Arg)
c.1067C>G (p.Thr356Arg)
c.446C>G (p.Thr149Arg)
18g.11881056C>TCA401928287GNALc.1298C>T (p.Thr433Ile)
c.1067C>T (p.Thr356Ile)
c.446C>T (p.Thr149Ile)

Number of alleles fetched