Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.41933772A>CCA371065789KAT6Ac.4448T>G (p.Ile1483Ser)
c.4454T>G (p.Ile1485Ser)
c.3129T>G
c.4580T>G (p.Ile1527Ser)
c.4559T>G (p.Ile1520Ser)
c.4466T>G (p.Ile1489Ser)
c.3020T>G (p.Ile1007Ser)
8g.41933772A>GCA371065790KAT6Ac.4448T>C (p.Ile1483Thr)
c.4454T>C (p.Ile1485Thr)
c.3129T>C
c.4580T>C (p.Ile1527Thr)
c.4559T>C (p.Ile1520Thr)
c.4466T>C (p.Ile1489Thr)
c.3020T>C (p.Ile1007Thr)
8g.41933772A>TCA371065791KAT6Ac.4448T>A (p.Ile1483Asn)
c.4454T>A (p.Ile1485Asn)
c.3129T>A
c.4580T>A (p.Ile1527Asn)
c.4559T>A (p.Ile1520Asn)
c.4466T>A (p.Ile1489Asn)
c.3020T>A (p.Ile1007Asn)
8g.41933773T>ACA371065792KAT6Ac.4447A>T (p.Ile1483Phe)
c.4453A>T (p.Ile1485Phe)
c.3128A>T
c.4579A>T (p.Ile1527Phe)
c.4558A>T (p.Ile1520Phe)
c.4465A>T (p.Ile1489Phe)
c.3019A>T (p.Ile1007Phe)
8g.41933773T>CCA4729484KAT6Ac.4447A>G (p.Ile1483Val)
c.4453A>G (p.Ile1485Val)
c.3128A>G
c.4579A>G (p.Ile1527Val)
c.4558A>G (p.Ile1520Val)
c.4465A>G (p.Ile1489Val)
c.3019A>G (p.Ile1007Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933773T>GCA371065793KAT6Ac.4447A>C (p.Ile1483Leu)
c.4453A>C (p.Ile1485Leu)
c.3128A>C
c.4579A>C (p.Ile1527Leu)
c.4558A>C (p.Ile1520Leu)
c.4465A>C (p.Ile1489Leu)
c.3019A>C (p.Ile1007Leu)
8g.41933773T=CA1779196060KAT6Ac.4447A= (p.Ile1483=)
c.4453A= (p.Ile1485=)
c.3128A=
c.4579A= (p.Ile1527=)
c.4558A= (p.Ile1520=)
c.4465A= (p.Ile1489=)
c.3019A= (p.Ile1007=)
8g.41933774A=CA1779196061KAT6Ac.4446T= (p.Pro1482=)
c.4452T= (p.Pro1484=)
c.3127T=
c.4578T= (p.Pro1526=)
c.4557T= (p.Pro1519=)
c.4464T= (p.Pro1488=)
c.3018T= (p.Pro1006=)
8g.41933774A>CCA460783295KAT6Ac.4446T>G (p.Pro1482=)
c.4452T>G (p.Pro1484=)
c.3127T>G
c.4578T>G (p.Pro1526=)
c.4557T>G (p.Pro1519=)
c.4464T>G (p.Pro1488=)
c.3018T>G (p.Pro1006=)
8g.41933774A>GCA175939384KAT6Ac.4446T>C (p.Pro1482=)
c.4452T>C (p.Pro1484=)
c.3127T>C
c.4578T>C (p.Pro1526=)
c.4557T>C (p.Pro1519=)
c.4464T>C (p.Pro1488=)
c.3018T>C (p.Pro1006=)
 dbSNP gnomAD v4
8g.41933774A>TCA460783297KAT6Ac.4446T>A (p.Pro1482=)
c.4452T>A (p.Pro1484=)
c.3127T>A
c.4578T>A (p.Pro1526=)
c.4557T>A (p.Pro1519=)
c.4464T>A (p.Pro1488=)
c.3018T>A (p.Pro1006=)
8g.41933775G>ACA371065796KAT6Ac.4445C>T (p.Pro1482Leu)
c.4451C>T (p.Pro1484Leu)
c.3126C>T
c.4577C>T (p.Pro1526Leu)
c.4556C>T (p.Pro1519Leu)
c.4463C>T (p.Pro1488Leu)
c.3017C>T (p.Pro1006Leu)
 ClinVar dbSNP
8g.41933775G>CCA371065794KAT6Ac.4445C>G (p.Pro1482Arg)
c.4451C>G (p.Pro1484Arg)
c.3126C>G
c.4577C>G (p.Pro1526Arg)
c.4556C>G (p.Pro1519Arg)
c.4463C>G (p.Pro1488Arg)
c.3017C>G (p.Pro1006Arg)
8g.41933775G=CA1779196062KAT6Ac.4445C= (p.Pro1482=)
c.4451C= (p.Pro1484=)
c.3126C=
c.4577C= (p.Pro1526=)
c.4556C= (p.Pro1519=)
c.4463C= (p.Pro1488=)
c.3017C= (p.Pro1006=)
8g.41933775G>TCA371065795KAT6Ac.4445C>A (p.Pro1482His)
c.4451C>A (p.Pro1484His)
c.3126C>A
c.4577C>A (p.Pro1526His)
c.4556C>A (p.Pro1519His)
c.4463C>A (p.Pro1488His)
c.3017C>A (p.Pro1006His)
8g.41933776G>ACA4729485KAT6Ac.4444C>T (p.Pro1482Ser)
c.4450C>T (p.Pro1484Ser)
c.3125C>T
c.4576C>T (p.Pro1526Ser)
c.4555C>T (p.Pro1519Ser)
c.4462C>T (p.Pro1488Ser)
c.3016C>T (p.Pro1006Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.41933776G>CCA371065797KAT6Ac.4444C>G (p.Pro1482Ala)
c.4450C>G (p.Pro1484Ala)
c.3125C>G
c.4576C>G (p.Pro1526Ala)
c.4555C>G (p.Pro1519Ala)
c.4462C>G (p.Pro1488Ala)
c.3016C>G (p.Pro1006Ala)
8g.41933776G=CA1779196063KAT6Ac.4444C= (p.Pro1482=)
c.4450C= (p.Pro1484=)
c.3125C=
c.4576C= (p.Pro1526=)
c.4555C= (p.Pro1519=)
c.4462C= (p.Pro1488=)
c.3016C= (p.Pro1006=)
8g.41933776G>TCA371065798KAT6Ac.4444C>A (p.Pro1482Thr)
c.4450C>A (p.Pro1484Thr)
c.3125C>A
c.4576C>A (p.Pro1526Thr)
c.4555C>A (p.Pro1519Thr)
c.4462C>A (p.Pro1488Thr)
c.3016C>A (p.Pro1006Thr)
8g.41933777G>ACA4729486KAT6Ac.4443C>T (p.Ser1481=)
c.4449C>T (p.Ser1483=)
c.3124C>T
c.4575C>T (p.Ser1525=)
c.4554C>T (p.Ser1518=)
c.4461C>T (p.Ser1487=)
c.3015C>T (p.Ser1005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933777G>CCA371065799KAT6Ac.4443C>G (p.Ser1481Arg)
c.4449C>G (p.Ser1483Arg)
c.3124C>G
c.4575C>G (p.Ser1525Arg)
c.4554C>G (p.Ser1518Arg)
c.4461C>G (p.Ser1487Arg)
c.3015C>G (p.Ser1005Arg)
8g.41933777G=CA1779196064KAT6Ac.4443C= (p.Ser1481=)
c.4449C= (p.Ser1483=)
c.3124C=
c.4575C= (p.Ser1525=)
c.4554C= (p.Ser1518=)
c.4461C= (p.Ser1487=)
c.3015C= (p.Ser1005=)
8g.41933777G>TCA175939385KAT6Ac.4443C>A (p.Ser1481Arg)
c.4449C>A (p.Ser1483Arg)
c.3124C>A
c.4575C>A (p.Ser1525Arg)
c.4554C>A (p.Ser1518Arg)
c.4461C>A (p.Ser1487Arg)
c.3015C>A (p.Ser1005Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41933778C>ACA4729487KAT6Ac.4442G>T (p.Ser1481Ile)
c.4448G>T (p.Ser1483Ile)
c.3123G>T
c.4574G>T (p.Ser1525Ile)
c.4553G>T (p.Ser1518Ile)
c.4460G>T (p.Ser1487Ile)
c.3014G>T (p.Ser1005Ile)
 dbSNP ExAC gnomAD v2
8g.41933778C=CA1779196065KAT6Ac.4442G= (p.Ser1481=)
c.4448G= (p.Ser1483=)
c.3123G=
c.4574G= (p.Ser1525=)
c.4553G= (p.Ser1518=)
c.4460G= (p.Ser1487=)
c.3014G= (p.Ser1005=)
8g.41933778C>GCA371065800KAT6Ac.4442G>C (p.Ser1481Thr)
c.4448G>C (p.Ser1483Thr)
c.3123G>C
c.4574G>C (p.Ser1525Thr)
c.4553G>C (p.Ser1518Thr)
c.4460G>C (p.Ser1487Thr)
c.3014G>C (p.Ser1005Thr)
8g.41933778C>TCA371065801KAT6Ac.4442G>A (p.Ser1481Asn)
c.4448G>A (p.Ser1483Asn)
c.3123G>A
c.4574G>A (p.Ser1525Asn)
c.4553G>A (p.Ser1518Asn)
c.4460G>A (p.Ser1487Asn)
c.3014G>A (p.Ser1005Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.41933779T>ACA371065802KAT6Ac.4441A>T (p.Ser1481Cys)
c.4447A>T (p.Ser1483Cys)
c.3122A>T
c.4573A>T (p.Ser1525Cys)
c.4552A>T (p.Ser1518Cys)
c.4459A>T (p.Ser1487Cys)
c.3013A>T (p.Ser1005Cys)
8g.41933779T>CCA371065803KAT6Ac.4441A>G (p.Ser1481Gly)
c.4447A>G (p.Ser1483Gly)
c.3122A>G
c.4573A>G (p.Ser1525Gly)
c.4552A>G (p.Ser1518Gly)
c.4459A>G (p.Ser1487Gly)
c.3013A>G (p.Ser1005Gly)
8g.41933779T>GCA371065804KAT6Ac.4441A>C (p.Ser1481Arg)
c.4447A>C (p.Ser1483Arg)
c.3122A>C
c.4573A>C (p.Ser1525Arg)
c.4552A>C (p.Ser1518Arg)
c.4459A>C (p.Ser1487Arg)
c.3013A>C (p.Ser1005Arg)
8g.41933780A>CCA371065805KAT6Ac.4440T>G (p.Asn1480Lys)
c.4446T>G (p.Asn1482Lys)
c.3121T>G
c.4572T>G (p.Asn1524Lys)
c.4551T>G (p.Asn1517Lys)
c.4458T>G (p.Asn1486Lys)
c.3012T>G (p.Asn1004Lys)
8g.41933780A>GCA460783304KAT6Ac.4440T>C (p.Asn1480=)
c.4446T>C (p.Asn1482=)
c.3121T>C
c.4572T>C (p.Asn1524=)
c.4551T>C (p.Asn1517=)
c.4458T>C (p.Asn1486=)
c.3012T>C (p.Asn1004=)
8g.41933780A>TCA371065806KAT6Ac.4440T>A (p.Asn1480Lys)
c.4446T>A (p.Asn1482Lys)
c.3121T>A
c.4572T>A (p.Asn1524Lys)
c.4551T>A (p.Asn1517Lys)
c.4458T>A (p.Asn1486Lys)
c.3012T>A (p.Asn1004Lys)
8g.41933781T>ACA371065807KAT6Ac.4439A>T (p.Asn1480Ile)
c.4445A>T (p.Asn1482Ile)
c.3120A>T
c.4571A>T (p.Asn1524Ile)
c.4550A>T (p.Asn1517Ile)
c.4457A>T (p.Asn1486Ile)
c.3011A>T (p.Asn1004Ile)
8g.41933781T>CCA371065809KAT6Ac.4439A>G (p.Asn1480Ser)
c.4445A>G (p.Asn1482Ser)
c.3120A>G
c.4571A>G (p.Asn1524Ser)
c.4550A>G (p.Asn1517Ser)
c.4457A>G (p.Asn1486Ser)
c.3011A>G (p.Asn1004Ser)
 dbSNP gnomAD v4
8g.41933781T>GCA371065808KAT6Ac.4439A>C (p.Asn1480Thr)
c.4445A>C (p.Asn1482Thr)
c.3120A>C
c.4571A>C (p.Asn1524Thr)
c.4550A>C (p.Asn1517Thr)
c.4457A>C (p.Asn1486Thr)
c.3011A>C (p.Asn1004Thr)
8g.41933781T=CA1779196066KAT6Ac.4439A= (p.Asn1480=)
c.4445A= (p.Asn1482=)
c.3120A=
c.4571A= (p.Asn1524=)
c.4550A= (p.Asn1517=)
c.4457A= (p.Asn1486=)
c.3011A= (p.Asn1004=)
8g.41933782T>ACA371065810KAT6Ac.4438A>T (p.Asn1480Tyr)
c.4444A>T (p.Asn1482Tyr)
c.3119A>T
c.4570A>T (p.Asn1524Tyr)
c.4549A>T (p.Asn1517Tyr)
c.4456A>T (p.Asn1486Tyr)
c.3010A>T (p.Asn1004Tyr)
8g.41933782T>CCA371065812KAT6Ac.4438A>G (p.Asn1480Asp)
c.4444A>G (p.Asn1482Asp)
c.3119A>G
c.4570A>G (p.Asn1524Asp)
c.4549A>G (p.Asn1517Asp)
c.4456A>G (p.Asn1486Asp)
c.3010A>G (p.Asn1004Asp)
 gnomAD v4
8g.41933782T>GCA371065811KAT6Ac.4438A>C (p.Asn1480His)
c.4444A>C (p.Asn1482His)
c.3119A>C
c.4570A>C (p.Asn1524His)
c.4549A>C (p.Asn1517His)
c.4456A>C (p.Asn1486His)
c.3010A>C (p.Asn1004His)
8g.41933783A=CA1779196067KAT6Ac.4437T= (p.His1479=)
c.4443T= (p.His1481=)
c.3118T=
c.4569T= (p.His1523=)
c.4548T= (p.His1516=)
c.4455T= (p.His1485=)
c.3009T= (p.His1003=)
8g.41933783A>CCA371065813KAT6Ac.4437T>G (p.His1479Gln)
c.4443T>G (p.His1481Gln)
c.3118T>G
c.4569T>G (p.His1523Gln)
c.4548T>G (p.His1516Gln)
c.4455T>G (p.His1485Gln)
c.3009T>G (p.His1003Gln)
 gnomAD v4
8g.41933783A>GCA460783310KAT6Ac.4437T>C (p.His1479=)
c.4443T>C (p.His1481=)
c.3118T>C
c.4569T>C (p.His1523=)
c.4548T>C (p.His1516=)
c.4455T>C (p.His1485=)
c.3009T>C (p.His1003=)
 ClinVar dbSNP gnomAD v4
8g.41933783A>TCA371065814KAT6Ac.4437T>A (p.His1479Gln)
c.4443T>A (p.His1481Gln)
c.3118T>A
c.4569T>A (p.His1523Gln)
c.4548T>A (p.His1516Gln)
c.4455T>A (p.His1485Gln)
c.3009T>A (p.His1003Gln)
8g.41933784T>ACA371065815KAT6Ac.4436A>T (p.His1479Leu)
c.4442A>T (p.His1481Leu)
c.3117A>T
c.4568A>T (p.His1523Leu)
c.4547A>T (p.His1516Leu)
c.4454A>T (p.His1485Leu)
c.3008A>T (p.His1003Leu)
 gnomAD v4
8g.41933784T>CCA4729488KAT6Ac.4436A>G (p.His1479Arg)
c.4442A>G (p.His1481Arg)
c.3117A>G
c.4568A>G (p.His1523Arg)
c.4547A>G (p.His1516Arg)
c.4454A>G (p.His1485Arg)
c.3008A>G (p.His1003Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41933784T>GCA371065816KAT6Ac.4436A>C (p.His1479Pro)
c.4442A>C (p.His1481Pro)
c.3117A>C
c.4568A>C (p.His1523Pro)
c.4547A>C (p.His1516Pro)
c.4454A>C (p.His1485Pro)
c.3008A>C (p.His1003Pro)
8g.41933784T=CA1779196068KAT6Ac.4436A= (p.His1479=)
c.4442A= (p.His1481=)
c.3117A=
c.4568A= (p.His1523=)
c.4547A= (p.His1516=)
c.4454A= (p.His1485=)
c.3008A= (p.His1003=)
8g.41933785G>ACA371065817KAT6Ac.4435C>T (p.His1479Tyr)
c.4441C>T (p.His1481Tyr)
c.3116C>T
c.4567C>T (p.His1523Tyr)
c.4546C>T (p.His1516Tyr)
c.4453C>T (p.His1485Tyr)
c.3007C>T (p.His1003Tyr)
 dbSNP
8g.41933785G>CCA371065818KAT6Ac.4435C>G (p.His1479Asp)
c.4441C>G (p.His1481Asp)
c.3116C>G
c.4567C>G (p.His1523Asp)
c.4546C>G (p.His1516Asp)
c.4453C>G (p.His1485Asp)
c.3007C>G (p.His1003Asp)

Number of alleles fetched