Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23339116delCA16041636SACSc.4319del (p.His1440LeufsTer?)
c.4760del (p.His1587LeufsTer?)
c.4787del (p.His1596LeufsTer?)
c.4811del (p.His1604LeufsTer?)
c.4778del (p.His1593LeufsTer?)
c.4751del (p.His1584LeufsTer?)
c.2510del (p.His837LeufsTer?)
n.1058-9632del (p.=)
n.2129+2329del
ClinVar dbSNP
13g.23339116T>ACA387527788SACSc.4319A>T (p.His1440Leu)
c.4760A>T (p.His1587Leu)
c.4787A>T (p.His1596Leu)
c.4811A>T (p.His1604Leu)
c.4778A>T (p.His1593Leu)
c.4751A>T (p.His1584Leu)
c.2510A>T (p.His837Leu)
n.1058-9632A>T (p.=)
n.2129+2329A>T
13g.23339116T>CCA387527790SACSc.4319A>G (p.His1440Arg)
c.4760A>G (p.His1587Arg)
c.4787A>G (p.His1596Arg)
c.4811A>G (p.His1604Arg)
c.4778A>G (p.His1593Arg)
c.4751A>G (p.His1584Arg)
c.2510A>G (p.His837Arg)
n.1058-9632A>G (p.=)
n.2129+2329A>G
13g.23339116T>GCA387527794SACSc.4319A>C (p.His1440Pro)
c.4760A>C (p.His1587Pro)
c.4787A>C (p.His1596Pro)
c.4811A>C (p.His1604Pro)
c.4778A>C (p.His1593Pro)
c.4751A>C (p.His1584Pro)
c.2510A>C (p.His837Pro)
n.1058-9632A>C (p.=)
n.2129+2329A>C
13g.23339117_23339121delCA6911346SACSc.4315_4319del (p.Asn1439TyrfsTer3)
c.4756_4760del (p.Asn1586TyrfsTer3)
c.4783_4787del (p.Asn1595TyrfsTer3)
c.4807_4811del (p.Asn1603TyrfsTer3)
c.4774_4778del (p.Asn1592TyrfsTer3)
c.4747_4751del (p.Asn1583TyrfsTer3)
c.2506_2510del (p.Asn836TyrfsTer3)
n.1058-9636_1058-9632del (p.=)
n.2129+2325_2129+2329del
dbSNP ExAC gnomAD
13g.23339117G>ACA387527800SACSc.4318C>T (p.His1440Tyr)
c.4759C>T (p.His1587Tyr)
c.4786C>T (p.His1596Tyr)
c.4810C>T (p.His1604Tyr)
c.4777C>T (p.His1593Tyr)
c.4750C>T (p.His1584Tyr)
c.2509C>T (p.His837Tyr)
n.1058-9633C>T (p.=)
n.2129+2328C>T
13g.23339117G>CCA387527802SACSc.4318C>G (p.His1440Asp)
c.4759C>G (p.His1587Asp)
c.4786C>G (p.His1596Asp)
c.4810C>G (p.His1604Asp)
c.4777C>G (p.His1593Asp)
c.4750C>G (p.His1584Asp)
c.2509C>G (p.His837Asp)
n.1058-9633C>G (p.=)
n.2129+2328C>G
13g.23339117G>TCA387527804SACSc.4318C>A (p.His1440Asn)
c.4759C>A (p.His1587Asn)
c.4786C>A (p.His1596Asn)
c.4810C>A (p.His1604Asn)
c.4777C>A (p.His1593Asn)
c.4750C>A (p.His1584Asn)
c.2509C>A (p.His837Asn)
n.1058-9633C>A (p.=)
n.2129+2328C>A
13g.23339118A>CCA387527807SACSc.4317T>G (p.Asn1439Lys)
c.4758T>G (p.Asn1586Lys)
c.4785T>G (p.Asn1595Lys)
c.4809T>G (p.Asn1603Lys)
c.4776T>G (p.Asn1592Lys)
c.4749T>G (p.Asn1583Lys)
c.2508T>G (p.Asn836Lys)
n.1058-9634T>G (p.=)
n.2129+2327T>G
13g.23339118A>GCA483162399SACSc.4317T>C (p.Asn1439=)
c.4758T>C (p.Asn1586=)
c.4785T>C (p.Asn1595=)
c.4809T>C (p.Asn1603=)
c.4776T>C (p.Asn1592=)
c.4749T>C (p.Asn1583=)
c.2508T>C (p.Asn836=)
n.1058-9634T>C (p.=)
n.2129+2327T>C
13g.23339118A>TCA387527809SACSc.4317T>A (p.Asn1439Lys)
c.4758T>A (p.Asn1586Lys)
c.4785T>A (p.Asn1595Lys)
c.4809T>A (p.Asn1603Lys)
c.4776T>A (p.Asn1592Lys)
c.4749T>A (p.Asn1583Lys)
c.2508T>A (p.Asn836Lys)
n.1058-9634T>A (p.=)
n.2129+2327T>A
13g.23339119T>ACA387527815SACSc.4316A>T (p.Asn1439Ile)
c.4757A>T (p.Asn1586Ile)
c.4784A>T (p.Asn1595Ile)
c.4808A>T (p.Asn1603Ile)
c.4775A>T (p.Asn1592Ile)
c.4748A>T (p.Asn1583Ile)
c.2507A>T (p.Asn836Ile)
n.1058-9635A>T (p.=)
n.2129+2326A>T
13g.23339119T>CCA6911347SACSc.4316A>G (p.Asn1439Ser)
c.4757A>G (p.Asn1586Ser)
c.4784A>G (p.Asn1595Ser)
c.4808A>G (p.Asn1603Ser)
c.4775A>G (p.Asn1592Ser)
c.4748A>G (p.Asn1583Ser)
c.2507A>G (p.Asn836Ser)
n.1058-9635A>G (p.=)
n.2129+2326A>G
ClinVar dbSNP ExAC gnomAD
13g.23339119T>GCA387527811SACSc.4316A>C (p.Asn1439Thr)
c.4757A>C (p.Asn1586Thr)
c.4784A>C (p.Asn1595Thr)
c.4808A>C (p.Asn1603Thr)
c.4775A>C (p.Asn1592Thr)
c.4748A>C (p.Asn1583Thr)
c.2507A>C (p.Asn836Thr)
n.1058-9635A>C (p.=)
n.2129+2326A>C
13g.23339120T>ACA387527818SACSc.4315A>T (p.Asn1439Tyr)
c.4756A>T (p.Asn1586Tyr)
c.4783A>T (p.Asn1595Tyr)
c.4807A>T (p.Asn1603Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4747A>T (p.Asn1583Tyr)
c.2506A>T (p.Asn836Tyr)
n.1058-9636A>T (p.=)
n.2129+2325A>T
13g.23339120T>CCA387527820SACSc.4315A>G (p.Asn1439Asp)
c.4756A>G (p.Asn1586Asp)
c.4783A>G (p.Asn1595Asp)
c.4807A>G (p.Asn1603Asp)
c.4774A>G (p.Asn1592Asp)
c.4747A>G (p.Asn1583Asp)
c.2506A>G (p.Asn836Asp)
n.1058-9636A>G (p.=)
n.2129+2325A>G
13g.23339120T>GCA387527822SACSc.4315A>C (p.Asn1439His)
c.4756A>C (p.Asn1586His)
c.4783A>C (p.Asn1595His)
c.4807A>C (p.Asn1603His)
c.4774A>C (p.Asn1592His)
c.4747A>C (p.Asn1583His)
c.2506A>C (p.Asn836His)
n.1058-9636A>C (p.=)
n.2129+2325A>C
13g.23339121T>ACA483162403SACSc.4314A>T (p.Ile1438=)
c.4755A>T (p.Ile1585=)
c.4782A>T (p.Ile1594=)
c.4806A>T (p.Ile1602=)
c.4773A>T (p.Ile1591=)
c.4746A>T (p.Ile1582=)
c.2505A>T (p.Ile835=)
n.1058-9637A>T (p.=)
n.2129+2324A>T
13g.23339121T>CCA387527824SACSc.4314A>G (p.Ile1438Met)
c.4755A>G (p.Ile1585Met)
c.4782A>G (p.Ile1594Met)
c.4806A>G (p.Ile1602Met)
c.4773A>G (p.Ile1591Met)
c.4746A>G (p.Ile1582Met)
c.2505A>G (p.Ile835Met)
n.1058-9637A>G (p.=)
n.2129+2324A>G
13g.23339121T>GCA483162402SACSc.4314A>C (p.Ile1438=)
c.4755A>C (p.Ile1585=)
c.4782A>C (p.Ile1594=)
c.4806A>C (p.Ile1602=)
c.4773A>C (p.Ile1591=)
c.4746A>C (p.Ile1582=)
c.2505A>C (p.Ile835=)
n.1058-9637A>C (p.=)
n.2129+2324A>C
13g.23339122A>CCA387527827SACSc.4313T>G (p.Ile1438Arg)
c.4754T>G (p.Ile1585Arg)
c.4781T>G (p.Ile1594Arg)
c.4805T>G (p.Ile1602Arg)
c.4772T>G (p.Ile1591Arg)
c.4745T>G (p.Ile1582Arg)
c.2504T>G (p.Ile835Arg)
n.1058-9638T>G (p.=)
n.2129+2323T>G
13g.23339122A>GCA387527829SACSc.4313T>C (p.Ile1438Thr)
c.4754T>C (p.Ile1585Thr)
c.4781T>C (p.Ile1594Thr)
c.4805T>C (p.Ile1602Thr)
c.4772T>C (p.Ile1591Thr)
c.4745T>C (p.Ile1582Thr)
c.2504T>C (p.Ile835Thr)
n.1058-9638T>C (p.=)
n.2129+2323T>C
13g.23339122A>TCA387527832SACSc.4313T>A (p.Ile1438Lys)
c.4754T>A (p.Ile1585Lys)
c.4781T>A (p.Ile1594Lys)
c.4805T>A (p.Ile1602Lys)
c.4772T>A (p.Ile1591Lys)
c.4745T>A (p.Ile1582Lys)
c.2504T>A (p.Ile835Lys)
n.1058-9638T>A (p.=)
n.2129+2323T>A
13g.23339123T>ACA387527837SACSc.4312A>T (p.Ile1438Leu)
c.4753A>T (p.Ile1585Leu)
c.4780A>T (p.Ile1594Leu)
c.4804A>T (p.Ile1602Leu)
c.4771A>T (p.Ile1591Leu)
c.4744A>T (p.Ile1582Leu)
c.2503A>T (p.Ile835Leu)
n.1058-9639A>T (p.=)
n.2129+2322A>T
13g.23339123T>CCA387527833SACSc.4312A>G (p.Ile1438Val)
c.4753A>G (p.Ile1585Val)
c.4780A>G (p.Ile1594Val)
c.4804A>G (p.Ile1602Val)
c.4771A>G (p.Ile1591Val)
c.4744A>G (p.Ile1582Val)
c.2503A>G (p.Ile835Val)
n.1058-9639A>G (p.=)
n.2129+2322A>G
13g.23339123T>GCA387527835SACSc.4312A>C (p.Ile1438Leu)
c.4753A>C (p.Ile1585Leu)
c.4780A>C (p.Ile1594Leu)
c.4804A>C (p.Ile1602Leu)
c.4771A>C (p.Ile1591Leu)
c.4744A>C (p.Ile1582Leu)
c.2503A>C (p.Ile835Leu)
n.1058-9639A>C (p.=)
n.2129+2322A>C
13g.23339124G>ACA483162406SACSc.4311C>T (p.Asn1437=)
c.4752C>T (p.Asn1584=)
c.4779C>T (p.Asn1593=)
c.4803C>T (p.Asn1601=)
c.4770C>T (p.Asn1590=)
c.4743C>T (p.Asn1581=)
c.2502C>T (p.Asn834=)
n.1058-9640C>T (p.=)
n.2129+2321C>T
13g.23339124G>CCA387527839SACSc.4311C>G (p.Asn1437Lys)
c.4752C>G (p.Asn1584Lys)
c.4779C>G (p.Asn1593Lys)
c.4803C>G (p.Asn1601Lys)
c.4770C>G (p.Asn1590Lys)
c.4743C>G (p.Asn1581Lys)
c.2502C>G (p.Asn834Lys)
n.1058-9640C>G (p.=)
n.2129+2321C>G
13g.23339124G>TCA387527841SACSc.4311C>A (p.Asn1437Lys)
c.4752C>A (p.Asn1584Lys)
c.4779C>A (p.Asn1593Lys)
c.4803C>A (p.Asn1601Lys)
c.4770C>A (p.Asn1590Lys)
c.4743C>A (p.Asn1581Lys)
c.2502C>A (p.Asn834Lys)
n.1058-9640C>A (p.=)
n.2129+2321C>A
13g.23339125T>ACA387527843SACSc.4310A>T (p.Asn1437Ile)
c.4751A>T (p.Asn1584Ile)
c.4778A>T (p.Asn1593Ile)
c.4802A>T (p.Asn1601Ile)
c.4769A>T (p.Asn1590Ile)
c.4742A>T (p.Asn1581Ile)
c.2501A>T (p.Asn834Ile)
n.1058-9641A>T (p.=)
n.2129+2320A>T
13g.23339125T>CCA387527844SACSc.4310A>G (p.Asn1437Ser)
c.4751A>G (p.Asn1584Ser)
c.4778A>G (p.Asn1593Ser)
c.4802A>G (p.Asn1601Ser)
c.4769A>G (p.Asn1590Ser)
c.4742A>G (p.Asn1581Ser)
c.2501A>G (p.Asn834Ser)
n.1058-9641A>G (p.=)
n.2129+2320A>G
13g.23339125T>GCA387527846SACSc.4310A>C (p.Asn1437Thr)
c.4751A>C (p.Asn1584Thr)
c.4778A>C (p.Asn1593Thr)
c.4802A>C (p.Asn1601Thr)
c.4769A>C (p.Asn1590Thr)
c.4742A>C (p.Asn1581Thr)
c.2501A>C (p.Asn834Thr)
n.1058-9641A>C (p.=)
n.2129+2320A>C
13g.23339126T>ACA387527849SACSc.4309A>T (p.Asn1437Tyr)
c.4750A>T (p.Asn1584Tyr)
c.4777A>T (p.Asn1593Tyr)
c.4801A>T (p.Asn1601Tyr)
c.4768A>T (p.Asn1590Tyr)
c.4741A>T (p.Asn1581Tyr)
c.2500A>T (p.Asn834Tyr)
n.1058-9642A>T (p.=)
n.2129+2319A>T
13g.23339126T>CCA387527853SACSc.4309A>G (p.Asn1437Asp)
c.4750A>G (p.Asn1584Asp)
c.4777A>G (p.Asn1593Asp)
c.4801A>G (p.Asn1601Asp)
c.4768A>G (p.Asn1590Asp)
c.4741A>G (p.Asn1581Asp)
c.2500A>G (p.Asn834Asp)
n.1058-9642A>G (p.=)
n.2129+2319A>G
13g.23339126T>GCA387527851SACSc.4309A>C (p.Asn1437His)
c.4750A>C (p.Asn1584His)
c.4777A>C (p.Asn1593His)
c.4801A>C (p.Asn1601His)
c.4768A>C (p.Asn1590His)
c.4741A>C (p.Asn1581His)
c.2500A>C (p.Asn834His)
n.1058-9642A>C (p.=)
n.2129+2319A>C
13g.23339127T>ACA483162410SACSc.4308A>T (p.Pro1436=)
c.4749A>T (p.Pro1583=)
c.4776A>T (p.Pro1592=)
c.4800A>T (p.Pro1600=)
c.4767A>T (p.Pro1589=)
c.4740A>T (p.Pro1580=)
c.2499A>T (p.Pro833=)
n.1058-9643A>T (p.=)
n.2129+2318A>T
13g.23339127T>CCA6911348SACSc.4308A>G (p.Pro1436=)
c.4749A>G (p.Pro1583=)
c.4776A>G (p.Pro1592=)
c.4800A>G (p.Pro1600=)
c.4767A>G (p.Pro1589=)
c.4740A>G (p.Pro1580=)
c.2499A>G (p.Pro833=)
n.1058-9643A>G (p.=)
n.2129+2318A>G
dbSNP ExAC gnomAD
13g.23339127T>GCA483162409SACSc.4308A>C (p.Pro1436=)
c.4749A>C (p.Pro1583=)
c.4776A>C (p.Pro1592=)
c.4800A>C (p.Pro1600=)
c.4767A>C (p.Pro1589=)
c.4740A>C (p.Pro1580=)
c.2499A>C (p.Pro833=)
n.1058-9643A>C (p.=)
n.2129+2318A>C
13g.23339128G>ACA387527857SACSc.4307C>T (p.Pro1436Leu)
c.4748C>T (p.Pro1583Leu)
c.4775C>T (p.Pro1592Leu)
c.4799C>T (p.Pro1600Leu)
c.4766C>T (p.Pro1589Leu)
c.4739C>T (p.Pro1580Leu)
c.2498C>T (p.Pro833Leu)
n.1058-9644C>T (p.=)
n.2129+2317C>T
13g.23339128G>CCA387527859SACSc.4307C>G (p.Pro1436Arg)
c.4748C>G (p.Pro1583Arg)
c.4775C>G (p.Pro1592Arg)
c.4799C>G (p.Pro1600Arg)
c.4766C>G (p.Pro1589Arg)
c.4739C>G (p.Pro1580Arg)
c.2498C>G (p.Pro833Arg)
n.1058-9644C>G (p.=)
n.2129+2317C>G
13g.23339128G>TCA387527860SACSc.4307C>A (p.Pro1436Gln)
c.4748C>A (p.Pro1583Gln)
c.4775C>A (p.Pro1592Gln)
c.4799C>A (p.Pro1600Gln)
c.4766C>A (p.Pro1589Gln)
c.4739C>A (p.Pro1580Gln)
c.2498C>A (p.Pro833Gln)
n.1058-9644C>A (p.=)
n.2129+2317C>A
13g.23339129G>ACA387527861SACSc.4306C>T (p.Pro1436Ser)
c.4747C>T (p.Pro1583Ser)
c.4774C>T (p.Pro1592Ser)
c.4798C>T (p.Pro1600Ser)
c.4765C>T (p.Pro1589Ser)
c.4738C>T (p.Pro1580Ser)
c.2497C>T (p.Pro833Ser)
n.1058-9645C>T (p.=)
n.2129+2316C>T
13g.23339129G>CCA387527862SACSc.4306C>G (p.Pro1436Ala)
c.4747C>G (p.Pro1583Ala)
c.4774C>G (p.Pro1592Ala)
c.4798C>G (p.Pro1600Ala)
c.4765C>G (p.Pro1589Ala)
c.4738C>G (p.Pro1580Ala)
c.2497C>G (p.Pro833Ala)
n.1058-9645C>G (p.=)
n.2129+2316C>G
13g.23339129G>TCA387527863SACSc.4306C>A (p.Pro1436Thr)
c.4747C>A (p.Pro1583Thr)
c.4774C>A (p.Pro1592Thr)
c.4798C>A (p.Pro1600Thr)
c.4765C>A (p.Pro1589Thr)
c.4738C>A (p.Pro1580Thr)
c.2497C>A (p.Pro833Thr)
n.1058-9645C>A (p.=)
n.2129+2316C>A
ClinVar
13g.23339130A>CCA387527864SACSc.4305T>G (p.Asp1435Glu)
c.4746T>G (p.Asp1582Glu)
c.4773T>G (p.Asp1591Glu)
c.4797T>G (p.Asp1599Glu)
c.4764T>G (p.Asp1588Glu)
c.4737T>G (p.Asp1579Glu)
c.2496T>G (p.Asp832Glu)
n.1058-9646T>G (p.=)
n.2129+2315T>G
13g.23339130A>GCA483162411SACSc.4305T>C (p.Asp1435=)
c.4746T>C (p.Asp1582=)
c.4773T>C (p.Asp1591=)
c.4797T>C (p.Asp1599=)
c.4764T>C (p.Asp1588=)
c.4737T>C (p.Asp1579=)
c.2496T>C (p.Asp832=)
n.1058-9646T>C (p.=)
n.2129+2315T>C
13g.23339130A>TCA387527865SACSc.4305T>A (p.Asp1435Glu)
c.4746T>A (p.Asp1582Glu)
c.4773T>A (p.Asp1591Glu)
c.4797T>A (p.Asp1599Glu)
c.4764T>A (p.Asp1588Glu)
c.4737T>A (p.Asp1579Glu)
c.2496T>A (p.Asp832Glu)
n.1058-9646T>A (p.=)
n.2129+2315T>A
13g.23339131T>ACA387527866SACSc.4304A>T (p.Asp1435Val)
c.4745A>T (p.Asp1582Val)
c.4772A>T (p.Asp1591Val)
c.4796A>T (p.Asp1599Val)
c.4763A>T (p.Asp1588Val)
c.4736A>T (p.Asp1579Val)
c.2495A>T (p.Asp832Val)
n.1058-9647A>T (p.=)
n.2129+2314A>T
13g.23339131T>CCA387527867SACSc.4304A>G (p.Asp1435Gly)
c.4745A>G (p.Asp1582Gly)
c.4772A>G (p.Asp1591Gly)
c.4796A>G (p.Asp1599Gly)
c.4763A>G (p.Asp1588Gly)
c.4736A>G (p.Asp1579Gly)
c.2495A>G (p.Asp832Gly)
n.1058-9647A>G (p.=)
n.2129+2314A>G
13g.23339131T>GCA387527868SACSc.4304A>C (p.Asp1435Ala)
c.4745A>C (p.Asp1582Ala)
c.4772A>C (p.Asp1591Ala)
c.4796A>C (p.Asp1599Ala)
c.4763A>C (p.Asp1588Ala)
c.4736A>C (p.Asp1579Ala)
c.2495A>C (p.Asp832Ala)
n.1058-9647A>C (p.=)
n.2129+2314A>C

Number of alleles fetched