Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.113327691_113327694delinsCAGGCA1394216454CFAP44c.4242_4245delinsCCTG (p.Leu1414=)
c.104_107delinsCCTG
c.1651_1654delinsCCTG
c.1947_1950delinsCCTG (p.Leu649=)
c.4374_4377delinsCCTG (p.Leu1458=)
c.4221_4224delinsCCTG (p.Leu1407=)
c.4002_4005delinsCCTG (p.Leu1334=)
c.3693_3696delinsCCTG (p.Leu1231=)
c.3342_3345delinsCCTG (p.Leu1114=)
n.4899_4902delinsCCTG
3g.113327694_113327696delCA545959698CFAP44c.4242_4244del (p.Leu1415del)
c.104_106del
c.1651_1653del
c.1947_1949del (p.Leu650del)
c.4374_4376del (p.Leu1459del)
c.4221_4223del (p.Leu1408del)
c.4002_4004del (p.Leu1335del)
c.3693_3695del (p.Leu1232del)
c.3342_3344del (p.Leu1115del)
n.4899_4901del
 dbSNP gnomAD v2 gnomAD v4
3g.113327693G>ACA434930794CFAP44c.4243C>T (p.Leu1415=)
c.105C>T
c.1652C>T
c.1948C>T (p.Leu650=)
c.4375C>T (p.Leu1459=)
c.4222C>T (p.Leu1408=)
c.4003C>T (p.Leu1335=)
c.3694C>T (p.Leu1232=)
c.3343C>T (p.Leu1115=)
n.4900C>T
3g.113327693G>CCA353777668CFAP44c.4243C>G (p.Leu1415Val)
c.105C>G
c.1652C>G
c.1948C>G (p.Leu650Val)
c.4375C>G (p.Leu1459Val)
c.4222C>G (p.Leu1408Val)
c.4003C>G (p.Leu1335Val)
c.3694C>G (p.Leu1232Val)
c.3343C>G (p.Leu1115Val)
n.4900C>G
3g.113327693G>TCA353777667CFAP44c.4243C>A (p.Leu1415Met)
c.105C>A
c.1652C>A
c.1948C>A (p.Leu650Met)
c.4375C>A (p.Leu1459Met)
c.4222C>A (p.Leu1408Met)
c.4003C>A (p.Leu1335Met)
c.3694C>A (p.Leu1232Met)
c.3343C>A (p.Leu1115Met)
n.4900C>A
3g.113327694G>ACA434930797CFAP44c.4242C>T (p.Leu1414=)
c.104C>T
c.1651C>T
c.1947C>T (p.Leu649=)
c.4374C>T (p.Leu1458=)
c.4221C>T (p.Leu1407=)
c.4002C>T (p.Leu1334=)
c.3693C>T (p.Leu1231=)
c.3342C>T (p.Leu1114=)
n.4899C>T
 dbSNP gnomAD v4
3g.113327694G>CCA434930798CFAP44c.4242C>G (p.Leu1414=)
c.104C>G
c.1651C>G
c.1947C>G (p.Leu649=)
c.4374C>G (p.Leu1458=)
c.4221C>G (p.Leu1407=)
c.4002C>G (p.Leu1334=)
c.3693C>G (p.Leu1231=)
c.3342C>G (p.Leu1114=)
n.4899C>G
3g.113327694G=CA1394216467CFAP44c.4242C= (p.Leu1414=)
c.104C=
c.1651C=
c.1947C= (p.Leu649=)
c.4374C= (p.Leu1458=)
c.4221C= (p.Leu1407=)
c.4002C= (p.Leu1334=)
c.3693C= (p.Leu1231=)
c.3342C= (p.Leu1114=)
n.4899C=
3g.113327694G>TCA434930799CFAP44c.4242C>A (p.Leu1414=)
c.104C>A
c.1651C>A
c.1947C>A (p.Leu649=)
c.4374C>A (p.Leu1458=)
c.4221C>A (p.Leu1407=)
c.4002C>A (p.Leu1334=)
c.3693C>A (p.Leu1231=)
c.3342C>A (p.Leu1114=)
n.4899C>A
3g.113327695A>CCA353777669CFAP44c.4241T>G (p.Leu1414Arg)
c.103T>G
c.1650T>G
c.1946T>G (p.Leu649Arg)
c.4373T>G (p.Leu1458Arg)
c.4220T>G (p.Leu1407Arg)
c.4001T>G (p.Leu1334Arg)
c.3692T>G (p.Leu1231Arg)
c.3341T>G (p.Leu1114Arg)
n.4898T>G
3g.113327695A>GCA353777670CFAP44c.4241T>C (p.Leu1414Pro)
c.103T>C
c.1650T>C
c.1946T>C (p.Leu649Pro)
c.4373T>C (p.Leu1458Pro)
c.4220T>C (p.Leu1407Pro)
c.4001T>C (p.Leu1334Pro)
c.3692T>C (p.Leu1231Pro)
c.3341T>C (p.Leu1114Pro)
n.4898T>C
 gnomAD v4
3g.113327695A>TCA353777671CFAP44c.4241T>A (p.Leu1414His)
c.103T>A
c.1650T>A
c.1946T>A (p.Leu649His)
c.4373T>A (p.Leu1458His)
c.4220T>A (p.Leu1407His)
c.4001T>A (p.Leu1334His)
c.3692T>A (p.Leu1231His)
c.3341T>A (p.Leu1114His)
n.4898T>A
3g.113327696G>ACA353777672CFAP44c.4240C>T (p.Leu1414Phe)
c.102C>T
c.1649C>T
c.1945C>T (p.Leu649Phe)
c.4372C>T (p.Leu1458Phe)
c.4219C>T (p.Leu1407Phe)
c.4000C>T (p.Leu1334Phe)
c.3691C>T (p.Leu1231Phe)
c.3340C>T (p.Leu1114Phe)
n.4897C>T
3g.113327696G>CCA353777673CFAP44c.4240C>G (p.Leu1414Val)
c.102C>G
c.1649C>G
c.1945C>G (p.Leu649Val)
c.4372C>G (p.Leu1458Val)
c.4219C>G (p.Leu1407Val)
c.4000C>G (p.Leu1334Val)
c.3691C>G (p.Leu1231Val)
c.3340C>G (p.Leu1114Val)
n.4897C>G
 dbSNP gnomAD v4
3g.113327696G=CA1394216471CFAP44c.4240C= (p.Leu1414=)
c.102C=
c.1649C=
c.1945C= (p.Leu649=)
c.4372C= (p.Leu1458=)
c.4219C= (p.Leu1407=)
c.4000C= (p.Leu1334=)
c.3691C= (p.Leu1231=)
c.3340C= (p.Leu1114=)
n.4897C=
3g.113327696G>TCA353777674CFAP44c.4240C>A (p.Leu1414Ile)
c.102C>A
c.1649C>A
c.1945C>A (p.Leu649Ile)
c.4372C>A (p.Leu1458Ile)
c.4219C>A (p.Leu1407Ile)
c.4000C>A (p.Leu1334Ile)
c.3691C>A (p.Leu1231Ile)
c.3340C>A (p.Leu1114Ile)
n.4897C>A
3g.113327697A>CCA434930803CFAP44c.4239T>G (p.Leu1413=)
c.101T>G
c.1648T>G
c.1944T>G (p.Leu648=)
c.4371T>G (p.Leu1457=)
c.4218T>G (p.Leu1406=)
c.3999T>G (p.Leu1333=)
c.3690T>G (p.Leu1230=)
c.3339T>G (p.Leu1113=)
n.4896T>G
3g.113327697A>GCA434930805CFAP44c.4239T>C (p.Leu1413=)
c.101T>C
c.1648T>C
c.1944T>C (p.Leu648=)
c.4371T>C (p.Leu1457=)
c.4218T>C (p.Leu1406=)
c.3999T>C (p.Leu1333=)
c.3690T>C (p.Leu1230=)
c.3339T>C (p.Leu1113=)
n.4896T>C
3g.113327697A>TCA434930806CFAP44c.4239T>A (p.Leu1413=)
c.101T>A
c.1648T>A
c.1944T>A (p.Leu648=)
c.4371T>A (p.Leu1457=)
c.4218T>A (p.Leu1406=)
c.3999T>A (p.Leu1333=)
c.3690T>A (p.Leu1230=)
c.3339T>A (p.Leu1113=)
n.4896T>A
 gnomAD v4
3g.113327698A>CCA353777675CFAP44c.4238T>G (p.Leu1413Arg)
c.100T>G
c.1647T>G
c.1943T>G (p.Leu648Arg)
c.4370T>G (p.Leu1457Arg)
c.4217T>G (p.Leu1406Arg)
c.3998T>G (p.Leu1333Arg)
c.3689T>G (p.Leu1230Arg)
c.3338T>G (p.Leu1113Arg)
n.4895T>G
 gnomAD v4
3g.113327698A>GCA353777676CFAP44c.4238T>C (p.Leu1413Pro)
c.100T>C
c.1647T>C
c.1943T>C (p.Leu648Pro)
c.4370T>C (p.Leu1457Pro)
c.4217T>C (p.Leu1406Pro)
c.3998T>C (p.Leu1333Pro)
c.3689T>C (p.Leu1230Pro)
c.3338T>C (p.Leu1113Pro)
n.4895T>C
3g.113327698A>TCA353777677CFAP44c.4238T>A (p.Leu1413His)
c.100T>A
c.1647T>A
c.1943T>A (p.Leu648His)
c.4370T>A (p.Leu1457His)
c.4217T>A (p.Leu1406His)
c.3998T>A (p.Leu1333His)
c.3689T>A (p.Leu1230His)
c.3338T>A (p.Leu1113His)
n.4895T>A
3g.113327699G>ACA353777678CFAP44c.4237C>T (p.Leu1413Phe)
c.99C>T
c.1646C>T
c.1942C>T (p.Leu648Phe)
c.4369C>T (p.Leu1457Phe)
c.4216C>T (p.Leu1406Phe)
c.3997C>T (p.Leu1333Phe)
c.3688C>T (p.Leu1230Phe)
c.3337C>T (p.Leu1113Phe)
n.4894C>T
3g.113327699G>CCA353777679CFAP44c.4237C>G (p.Leu1413Val)
c.99C>G
c.1646C>G
c.1942C>G (p.Leu648Val)
c.4369C>G (p.Leu1457Val)
c.4216C>G (p.Leu1406Val)
c.3997C>G (p.Leu1333Val)
c.3688C>G (p.Leu1230Val)
c.3337C>G (p.Leu1113Val)
n.4894C>G
3g.113327699G>TCA353777680CFAP44c.4237C>A (p.Leu1413Ile)
c.99C>A
c.1646C>A
c.1942C>A (p.Leu648Ile)
c.4369C>A (p.Leu1457Ile)
c.4216C>A (p.Leu1406Ile)
c.3997C>A (p.Leu1333Ile)
c.3688C>A (p.Leu1230Ile)
c.3337C>A (p.Leu1113Ile)
n.4894C>A
3g.113327700T>ACA434930812CFAP44c.4236A>T (p.Ile1412=)
c.98A>T
c.1645A>T
c.1941A>T (p.Ile647=)
c.4368A>T (p.Ile1456=)
c.4215A>T (p.Ile1405=)
c.3996A>T (p.Ile1332=)
c.3687A>T (p.Ile1229=)
c.3336A>T (p.Ile1112=)
n.4893A>T
3g.113327700T>CCA353777681CFAP44c.4236A>G (p.Ile1412Met)
c.98A>G
c.1645A>G
c.1941A>G (p.Ile647Met)
c.4368A>G (p.Ile1456Met)
c.4215A>G (p.Ile1405Met)
c.3996A>G (p.Ile1332Met)
c.3687A>G (p.Ile1229Met)
c.3336A>G (p.Ile1112Met)
n.4893A>G
3g.113327700T>GCA434930814CFAP44c.4236A>C (p.Ile1412=)
c.98A>C
c.1645A>C
c.1941A>C (p.Ile647=)
c.4368A>C (p.Ile1456=)
c.4215A>C (p.Ile1405=)
c.3996A>C (p.Ile1332=)
c.3687A>C (p.Ile1229=)
c.3336A>C (p.Ile1112=)
n.4893A>C
3g.113327701A>CCA353777684CFAP44c.4235T>G (p.Ile1412Arg)
c.97T>G
c.1644T>G
c.1940T>G (p.Ile647Arg)
c.4367T>G (p.Ile1456Arg)
c.4214T>G (p.Ile1405Arg)
c.3995T>G (p.Ile1332Arg)
c.3686T>G (p.Ile1229Arg)
c.3335T>G (p.Ile1112Arg)
n.4892T>G
3g.113327701A>GCA353777683CFAP44c.4235T>C (p.Ile1412Thr)
c.97T>C
c.1644T>C
c.1940T>C (p.Ile647Thr)
c.4367T>C (p.Ile1456Thr)
c.4214T>C (p.Ile1405Thr)
c.3995T>C (p.Ile1332Thr)
c.3686T>C (p.Ile1229Thr)
c.3335T>C (p.Ile1112Thr)
n.4892T>C
3g.113327701A>TCA353777682CFAP44c.4235T>A (p.Ile1412Lys)
c.97T>A
c.1644T>A
c.1940T>A (p.Ile647Lys)
c.4367T>A (p.Ile1456Lys)
c.4214T>A (p.Ile1405Lys)
c.3995T>A (p.Ile1332Lys)
c.3686T>A (p.Ile1229Lys)
c.3335T>A (p.Ile1112Lys)
n.4892T>A
3g.113327702T>ACA353777685CFAP44c.4234A>T (p.Ile1412Leu)
c.96A>T
c.1643A>T
c.1939A>T (p.Ile647Leu)
c.4366A>T (p.Ile1456Leu)
c.4213A>T (p.Ile1405Leu)
c.3994A>T (p.Ile1332Leu)
c.3685A>T (p.Ile1229Leu)
c.3334A>T (p.Ile1112Leu)
n.4891A>T
3g.113327702T>CCA353777687CFAP44c.4234A>G (p.Ile1412Val)
c.96A>G
c.1643A>G
c.1939A>G (p.Ile647Val)
c.4366A>G (p.Ile1456Val)
c.4213A>G (p.Ile1405Val)
c.3994A>G (p.Ile1332Val)
c.3685A>G (p.Ile1229Val)
c.3334A>G (p.Ile1112Val)
n.4891A>G
3g.113327702T>GCA353777686CFAP44c.4234A>C (p.Ile1412Leu)
c.96A>C
c.1643A>C
c.1939A>C (p.Ile647Leu)
c.4366A>C (p.Ile1456Leu)
c.4213A>C (p.Ile1405Leu)
c.3994A>C (p.Ile1332Leu)
c.3685A>C (p.Ile1229Leu)
c.3334A>C (p.Ile1112Leu)
n.4891A>C
 gnomAD v4
3g.113327703T>ACA353777688CFAP44c.4233A>T (p.Glu1411Asp)
c.95A>T
c.1642A>T
c.1938A>T (p.Glu646Asp)
c.4365A>T (p.Glu1455Asp)
c.4212A>T (p.Glu1404Asp)
c.3993A>T (p.Glu1331Asp)
c.3684A>T (p.Glu1228Asp)
c.3333A>T (p.Glu1111Asp)
n.4890A>T
3g.113327703T>CCA434930823CFAP44c.4233A>G (p.Glu1411=)
c.95A>G
c.1642A>G
c.1938A>G (p.Glu646=)
c.4365A>G (p.Glu1455=)
c.4212A>G (p.Glu1404=)
c.3993A>G (p.Glu1331=)
c.3684A>G (p.Glu1228=)
c.3333A>G (p.Glu1111=)
n.4890A>G
3g.113327703T>GCA353777689CFAP44c.4233A>C (p.Glu1411Asp)
c.95A>C
c.1642A>C
c.1938A>C (p.Glu646Asp)
c.4365A>C (p.Glu1455Asp)
c.4212A>C (p.Glu1404Asp)
c.3993A>C (p.Glu1331Asp)
c.3684A>C (p.Glu1228Asp)
c.3333A>C (p.Glu1111Asp)
n.4890A>C
3g.113327704T>ACA353777690CFAP44c.4232A>T (p.Glu1411Val)
c.94A>T
c.1641A>T
c.1937A>T (p.Glu646Val)
c.4364A>T (p.Glu1455Val)
c.4211A>T (p.Glu1404Val)
c.3992A>T (p.Glu1331Val)
c.3683A>T (p.Glu1228Val)
c.3332A>T (p.Glu1111Val)
n.4889A>T
3g.113327704T>CCA353777692CFAP44c.4232A>G (p.Glu1411Gly)
c.94A>G
c.1641A>G
c.1937A>G (p.Glu646Gly)
c.4364A>G (p.Glu1455Gly)
c.4211A>G (p.Glu1404Gly)
c.3992A>G (p.Glu1331Gly)
c.3683A>G (p.Glu1228Gly)
c.3332A>G (p.Glu1111Gly)
n.4889A>G
 dbSNP gnomAD v3 gnomAD v4
3g.113327704T>GCA353777691CFAP44c.4232A>C (p.Glu1411Ala)
c.94A>C
c.1641A>C
c.1937A>C (p.Glu646Ala)
c.4364A>C (p.Glu1455Ala)
c.4211A>C (p.Glu1404Ala)
c.3992A>C (p.Glu1331Ala)
c.3683A>C (p.Glu1228Ala)
c.3332A>C (p.Glu1111Ala)
n.4889A>C
3g.113327704T=CA1394216479CFAP44c.4232A= (p.Glu1411=)
c.94A=
c.1641A=
c.1937A= (p.Glu646=)
c.4364A= (p.Glu1455=)
c.4211A= (p.Glu1404=)
c.3992A= (p.Glu1331=)
c.3683A= (p.Glu1228=)
c.3332A= (p.Glu1111=)
n.4889A=
3g.113327705C>ACA81542475CFAP44c.4231G>T (p.Glu1411Ter)
c.93G>T
c.1640G>T
c.1936G>T (p.Glu646Ter)
c.4363G>T (p.Glu1455Ter)
c.4210G>T (p.Glu1404Ter)
c.3991G>T (p.Glu1331Ter)
c.3682G>T (p.Glu1228Ter)
c.3331G>T (p.Glu1111Ter)
n.4888G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.113327705C=CA1394216486CFAP44c.4231G= (p.Glu1411=)
c.93G=
c.1640G=
c.1936G= (p.Glu646=)
c.4363G= (p.Glu1455=)
c.4210G= (p.Glu1404=)
c.3991G= (p.Glu1331=)
c.3682G= (p.Glu1228=)
c.3331G= (p.Glu1111=)
n.4888G=
3g.113327705C>GCA353777693CFAP44c.4231G>C (p.Glu1411Gln)
c.93G>C
c.1640G>C
c.1936G>C (p.Glu646Gln)
c.4363G>C (p.Glu1455Gln)
c.4210G>C (p.Glu1404Gln)
c.3991G>C (p.Glu1331Gln)
c.3682G>C (p.Glu1228Gln)
c.3331G>C (p.Glu1111Gln)
n.4888G>C
3g.113327705C>TCA353777694CFAP44c.4231G>A (p.Glu1411Lys)
c.93G>A
c.1640G>A
c.1936G>A (p.Glu646Lys)
c.4363G>A (p.Glu1455Lys)
c.4210G>A (p.Glu1404Lys)
c.3991G>A (p.Glu1331Lys)
c.3682G>A (p.Glu1228Lys)
c.3331G>A (p.Glu1111Lys)
n.4888G>A
3g.113327706T>ACA353777695CFAP44c.4230A>T (p.Gln1410His)
c.92A>T
c.1639A>T
c.1935A>T (p.Gln645His)
c.4362A>T (p.Gln1454His)
c.4209A>T (p.Gln1403His)
c.3990A>T (p.Gln1330His)
c.3681A>T (p.Gln1227His)
c.3330A>T (p.Gln1110His)
n.4887A>T
3g.113327706T>CCA434930834CFAP44c.4230A>G (p.Gln1410=)
c.92A>G
c.1639A>G
c.1935A>G (p.Gln645=)
c.4362A>G (p.Gln1454=)
c.4209A>G (p.Gln1403=)
c.3990A>G (p.Gln1330=)
c.3681A>G (p.Gln1227=)
c.3330A>G (p.Gln1110=)
n.4887A>G
3g.113327706T>GCA353777696CFAP44c.4230A>C (p.Gln1410His)
c.92A>C
c.1639A>C
c.1935A>C (p.Gln645His)
c.4362A>C (p.Gln1454His)
c.4209A>C (p.Gln1403His)
c.3990A>C (p.Gln1330His)
c.3681A>C (p.Gln1227His)
c.3330A>C (p.Gln1110His)
n.4887A>C
3g.113327707T>ACA353777697CFAP44c.4229A>T (p.Gln1410Leu)
c.91A>T
c.1638A>T
c.1934A>T (p.Gln645Leu)
c.4361A>T (p.Gln1454Leu)
c.4208A>T (p.Gln1403Leu)
c.3989A>T (p.Gln1330Leu)
c.3680A>T (p.Gln1227Leu)
c.3329A>T (p.Gln1110Leu)
n.4886A>T
3g.113327707T>CCA353777698CFAP44c.4229A>G (p.Gln1410Arg)
c.91A>G
c.1638A>G
c.1934A>G (p.Gln645Arg)
c.4361A>G (p.Gln1454Arg)
c.4208A>G (p.Gln1403Arg)
c.3989A>G (p.Gln1330Arg)
c.3680A>G (p.Gln1227Arg)
c.3329A>G (p.Gln1110Arg)
n.4886A>G
 gnomAD v4

Number of alleles fetched