Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.99851563_99851564insGCAGTGAAAACA2722455281ABCC2c.4570_4571insGCAGTGAAAA (p.Ile1524SerfsTer13)
c.640_641insGCAGTGAAAA
c.3874_3875insGCAGTGAAAA (p.Ile1292SerfsTer13)
dbSNP
10g.99851562A>CCA378130794ABCC2c.4569A>C (p.Gln1523His)
c.639A>C
c.3873A>C (p.Gln1291His)
10g.99851562A>GCA471136068ABCC2c.4569A>G (p.Gln1523=)
c.639A>G
c.3873A>G (p.Gln1291=)
10g.99851562A>TCA378130796ABCC2c.4569A>T (p.Gln1523His)
c.639A>T
c.3873A>T (p.Gln1291His)
10g.99851563A=CA1931484775ABCC2c.4570A= (p.Ile1524=)
c.640A=
c.3874A= (p.Ile1292=)
10g.99851563A>CCA378130799ABCC2c.4570A>C (p.Ile1524Leu)
c.640A>C
c.3874A>C (p.Ile1292Leu)
10g.99851563A>GCA378130800ABCC2c.4570A>G (p.Ile1524Val)
c.640A>G
c.3874A>G (p.Ile1292Val)
10g.99851563A>TCA378130803ABCC2c.4570A>T (p.Ile1524Phe)
c.640A>T
c.3874A>T (p.Ile1292Phe)
10g.99851563_99851564insGGGCA1931484776ABCC2c.4570_4571insGGG (p.Ile1524delinsArgVal)
c.640_641insGGG
c.3874_3875insGGG (p.Ile1292delinsArgVal)
dbSNP
10g.99851563_99851564insAGGGCA595453944ABCC2c.4570_4571insAGGG (p.Ile1524LysfsTer11)
c.640_641insAGGG
c.3874_3875insAGGG (p.Ile1292LysfsTer11)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851563_99851564insGCAGTGAAAATCAATGAGCCACAGCCA2722358673ABCC2c.4570_4571insGCAGTGAAAATCAATGAGCCACAGC (p.Ile1524SerfsTer6)
c.640_641insGCAGTGAAAATCAATGAGCCACAGC
c.3874_3875insGCAGTGAAAATCAATGAGCCACAGC (p.Ile1292SerfsTer6)
dbSNP
10g.99851564T>ACA378130805ABCC2c.4571T>A (p.Ile1524Asn)
c.641T>A
c.3875T>A (p.Ile1292Asn)
10g.99851564T>CCA378130806ABCC2c.4571T>C (p.Ile1524Thr)
c.641T>C
c.3875T>C (p.Ile1292Thr)
10g.99851564T>GCA378130807ABCC2c.4571T>G (p.Ile1524Ser)
c.641T>G
c.3875T>G (p.Ile1292Ser)
10g.99851565C>ACA471136069ABCC2c.4572C>A (p.Ile1524=)
c.642C>A
c.3876C>A (p.Ile1292=)
dbSNP gnomAD v2 gnomAD v4
10g.99851565C=CA1931484778ABCC2c.4572C= (p.Ile1524=)
c.642C=
c.3876C= (p.Ile1292=)
10g.99851565C>GCA378130809ABCC2c.4572C>G (p.Ile1524Met)
c.642C>G
c.3876C>G (p.Ile1292Met)
10g.99851565C>TCA471136070ABCC2c.4572C>T (p.Ile1524=)
c.642C>T
c.3876C>T (p.Ile1292=)
10g.99851566C>ACA378130811ABCC2c.4573C>A (p.Pro1525Thr)
c.643C>A
c.3877C>A (p.Pro1293Thr)
10g.99851566C>GCA378130812ABCC2c.4573C>G (p.Pro1525Ala)
c.643C>G
c.3877C>G (p.Pro1293Ala)
10g.99851566C>TCA378130813ABCC2c.4573C>T (p.Pro1525Ser)
c.643C>T
c.3877C>T (p.Pro1293Ser)
COSMIC
10g.99851567C>ACA378130817ABCC2c.4574C>A (p.Pro1525His)
c.644C>A
c.3878C>A (p.Pro1293His)
10g.99851567C=CA1931484780ABCC2c.4574C= (p.Pro1525=)
c.644C=
c.3878C= (p.Pro1293=)
10g.99851567C>GCA378130819ABCC2c.4574C>G (p.Pro1525Arg)
c.644C>G
c.3878C>G (p.Pro1293Arg)
10g.99851567C>TCA378130815ABCC2c.4574C>T (p.Pro1525Leu)
c.644C>T
c.3878C>T (p.Pro1293Leu)
dbSNP gnomAD v4
10g.99851568T>ACA471136071ABCC2c.4575T>A (p.Pro1525=)
c.645T>A
c.3879T>A (p.Pro1293=)
10g.99851568T>CCA471136072ABCC2c.4575T>C (p.Pro1525=)
c.645T>C
c.3879T>C (p.Pro1293=)
10g.99851568T>GCA5644193ABCC2c.4575T>G (p.Pro1525=)
c.645T>G
c.3879T>G (p.Pro1293=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851568T=CA1931484783ABCC2c.4575T= (p.Pro1525=)
c.645T=
c.3879T= (p.Pro1293=)
10g.99851569G>ACA378130821ABCC2c.4576G>A (p.Gly1526Arg)
c.646G>A
c.3880G>A (p.Gly1294Arg)
10g.99851569G>CCA378130823ABCC2c.4576G>C (p.Gly1526Arg)
c.646G>C
c.3880G>C (p.Gly1294Arg)
10g.99851569G>TCA378130825ABCC2c.4576G>T (p.Gly1526Ter)
c.646G>T
c.3880G>T (p.Gly1294Ter)
10g.99851570G>ACA378130828ABCC2c.4577G>A (p.Gly1526Glu)
c.647G>A
c.3881G>A (p.Gly1294Glu)
10g.99851570G>CCA378130827ABCC2c.4577G>C (p.Gly1526Ala)
c.647G>C
c.3881G>C (p.Gly1294Ala)
gnomAD v4
10g.99851570G>TCA378130826ABCC2c.4577G>T (p.Gly1526Val)
c.647G>T
c.3881G>T (p.Gly1294Val)
10g.99851571A>CCA471136073ABCC2c.4578A>C (p.Gly1526=)
c.648A>C
c.3882A>C (p.Gly1294=)
10g.99851571A>GCA471136074ABCC2c.4578A>G (p.Gly1526=)
c.648A>G
c.3882A>G (p.Gly1294=)
10g.99851571A>TCA471136075ABCC2c.4578A>T (p.Gly1526=)
c.648A>T
c.3882A>T (p.Gly1294=)
10g.99851572C>ACA378130829ABCC2c.4579C>A (p.Pro1527Thr)
c.649C>A
c.3883C>A (p.Pro1295Thr)
10g.99851572C>GCA378130830ABCC2c.4579C>G (p.Pro1527Ala)
c.649C>G
c.3883C>G (p.Pro1295Ala)
10g.99851572C>TCA378130831ABCC2c.4579C>T (p.Pro1527Ser)
c.649C>T
c.3883C>T (p.Pro1295Ser)
10g.99851573C>ACA378130832ABCC2c.4580C>A (p.Pro1527His)
c.650C>A
c.3884C>A (p.Pro1295His)
10g.99851573C=CA1931484787ABCC2c.4580C= (p.Pro1527=)
c.650C=
c.3884C= (p.Pro1295=)
10g.99851573C>GCA378130833ABCC2c.4580C>G (p.Pro1527Arg)
c.650C>G
c.3884C>G (p.Pro1295Arg)
gnomAD v4
10g.99851573C>TCA5644194ABCC2c.4580C>T (p.Pro1527Leu)
c.650C>T
c.3884C>T (p.Pro1295Leu)
ClinVar dbSNP ExAC gnomAD v4
10g.99851574C>ACA471136078ABCC2c.4581C>A (p.Pro1527=)
c.651C>A
c.3885C>A (p.Pro1295=)
gnomAD v4
10g.99851574C=CA1931484797ABCC2c.4581C= (p.Pro1527=)
c.651C=
c.3885C= (p.Pro1295=)
10g.99851574C>GCA471136077ABCC2c.4581C>G (p.Pro1527=)
c.651C>G
c.3885C>G (p.Pro1295=)
10g.99851574C>TCA471136076ABCC2c.4581C>T (p.Pro1527=)
c.651C>T
c.3885C>T (p.Pro1295=)
ClinVar dbSNP gnomAD v4
10g.99851574_99851575delinsCTCA1931484796ABCC2c.4581_4582delinsCT (p.Pro1527=)
c.651_652delinsCT
c.3885_3886delinsCT (p.Pro1295=)
10g.99851574_99851575insGGCCGGGCGCGGCA2610498399ABCC2c.4581_4582insGGCCGGGCGCGG (p.Pro1527_Phe1528insGlyArgAlaArg)
c.651_652insGGCCGGGCGCGG
c.3885_3886insGGCCGGGCGCGG (p.Pro1295_Phe1296insGlyArgAlaArg)
gnomAD v4
10g.99851575T>ACA378130845ABCC2c.4582T>A (p.Phe1528Ile)
c.652T>A
c.3886T>A (p.Phe1296Ile)
10g.99851575T>CCA378130837ABCC2c.4582T>C (p.Phe1528Leu)
c.652T>C
c.3886T>C (p.Phe1296Leu)
dbSNP
10g.99851575T>GCA378130835ABCC2c.4582T>G (p.Phe1528Val)
c.652T>G
c.3886T>G (p.Phe1296Val)
10g.99851578delCA1931484800ABCC2c.4585del (p.Tyr1529ThrfsTer12)
c.655del
c.3889del (p.Tyr1297ThrfsTer12)
dbSNP
10g.99851575_99851576insGGCTCACGCCCA2610498400ABCC2c.4582_4583insGGCTCACGCC (p.Phe1528TrpfsTer9)
c.652_653insGGCTCACGCC
c.3886_3887insGGCTCACGCC (p.Phe1296TrpfsTer9)
gnomAD v4
10g.99851576T>ACA378130848ABCC2c.4583T>A (p.Phe1528Tyr)
c.653T>A
c.3887T>A (p.Phe1296Tyr)
10g.99851576T>CCA378130851ABCC2c.4583T>C (p.Phe1528Ser)
c.653T>C
c.3887T>C (p.Phe1296Ser)
10g.99851576T>GCA378130849ABCC2c.4583T>G (p.Phe1528Cys)
c.653T>G
c.3887T>G (p.Phe1296Cys)
10g.99851577T>ACA378130855ABCC2c.4584T>A (p.Phe1528Leu)
c.654T>A
c.3888T>A (p.Phe1296Leu)
10g.99851577T>CCA471136079ABCC2c.4584T>C (p.Phe1528=)
c.654T>C
c.3888T>C (p.Phe1296=)
10g.99851577T>GCA378130857ABCC2c.4584T>G (p.Phe1528Leu)
c.654T>G
c.3888T>G (p.Phe1296Leu)
10g.99851579_99851582delCA2610498401ABCC2c.4586_4589del (p.Tyr1529LeufsTer11)
c.656_659del
c.3890_3893del (p.Tyr1297LeufsTer11)
gnomAD v4
10g.99851578T>ACA378130859ABCC2c.4585T>A (p.Tyr1529Asn)
c.655T>A
c.3889T>A (p.Tyr1297Asn)
10g.99851578T>CCA5644195ABCC2c.4585T>C (p.Tyr1529His)
c.655T>C
c.3889T>C (p.Tyr1297His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.99851578T>GCA378130862ABCC2c.4585T>G (p.Tyr1529Asp)
c.655T>G
c.3889T>G (p.Tyr1297Asp)
10g.99851578T=CA1931484803ABCC2c.4585T= (p.Tyr1529=)
c.655T=
c.3889T= (p.Tyr1297=)
10g.99851579A>CCA378130865ABCC2c.4586A>C (p.Tyr1529Ser)
c.656A>C
c.3890A>C (p.Tyr1297Ser)
10g.99851579A>GCA378130867ABCC2c.4586A>G (p.Tyr1529Cys)
c.656A>G
c.3890A>G (p.Tyr1297Cys)
dbSNP
10g.99851579A>TCA378130870ABCC2c.4586A>T (p.Tyr1529Phe)
c.656A>T
c.3890A>T (p.Tyr1297Phe)
10g.99851580C>ACA378130880ABCC2c.4587C>A (p.Tyr1529Ter)
c.657C>A
c.3891C>A (p.Tyr1297Ter)
10g.99851580C>GCA378130882ABCC2c.4587C>G (p.Tyr1529Ter)
c.657C>G
c.3891C>G (p.Tyr1297Ter)
10g.99851580C>TCA471136080ABCC2c.4587C>T (p.Tyr1529=)
c.657C>T
c.3891C>T (p.Tyr1297=)
10g.99851581T>ACA378130883ABCC2c.4588T>A (p.Phe1530Ile)
c.658T>A
c.3892T>A (p.Phe1298Ile)
10g.99851581T>CCA378130884ABCC2c.4588T>C (p.Phe1530Leu)
c.658T>C
c.3892T>C (p.Phe1298Leu)
10g.99851581T>GCA378130886ABCC2c.4588T>G (p.Phe1530Val)
c.658T>G
c.3892T>G (p.Phe1298Val)
10g.99851582T>ACA378130891ABCC2c.4589T>A (p.Phe1530Tyr)
c.659T>A
c.3893T>A (p.Phe1298Tyr)
10g.99851582T>CCA378130889ABCC2c.4589T>C (p.Phe1530Ser)
c.659T>C
c.3893T>C (p.Phe1298Ser)
10g.99851582T>GCA378130888ABCC2c.4589T>G (p.Phe1530Cys)
c.659T>G
c.3893T>G (p.Phe1298Cys)
10g.99851583T>ACA5644196ABCC2c.4590T>A (p.Phe1530Leu)
c.660T>A
c.3894T>A (p.Phe1298Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851583T>CCA471136081ABCC2c.4590T>C (p.Phe1530=)
c.660T>C
c.3894T>C (p.Phe1298=)
10g.99851583T>GCA378130893ABCC2c.4590T>G (p.Phe1530Leu)
c.660T>G
c.3894T>G (p.Phe1298Leu)
10g.99851583T=CA1931484807ABCC2c.4590T= (p.Phe1530=)
c.660T=
c.3894T= (p.Phe1298=)
10g.99851584A>CCA378130896ABCC2c.4591A>C (p.Met1531Leu)
c.661A>C
c.3895A>C (p.Met1299Leu)
10g.99851584A>GCA378130898ABCC2c.4591A>G (p.Met1531Val)
c.661A>G
c.3895A>G (p.Met1299Val)
10g.99851584A>TCA378130899ABCC2c.4591A>T (p.Met1531Leu)
c.661A>T
c.3895A>T (p.Met1299Leu)
gnomAD v4
10g.99851585T>ACA5644197ABCC2c.4592T>A (p.Met1531Lys)
c.662T>A
c.3896T>A (p.Met1299Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851585T>CCA378130902ABCC2c.4592T>C (p.Met1531Thr)
c.662T>C
c.3896T>C (p.Met1299Thr)
gnomAD v4
10g.99851585T>GCA378130905ABCC2c.4592T>G (p.Met1531Arg)
c.662T>G
c.3896T>G (p.Met1299Arg)
dbSNP gnomAD v3 gnomAD v4
10g.99851585T=CA1931484815ABCC2c.4592T= (p.Met1531=)
c.662T=
c.3896T= (p.Met1299=)
10g.99851586G>ACA378130906ABCC2c.4593G>A (p.Met1531Ile)
c.663G>A
c.3897G>A (p.Met1299Ile)
gnomAD v4
10g.99851586G>CCA378130909ABCC2c.4593G>C (p.Met1531Ile)
c.663G>C
c.3897G>C (p.Met1299Ile)
10g.99851586G>TCA378130911ABCC2c.4593G>T (p.Met1531Ile)
c.663G>T
c.3897G>T (p.Met1299Ile)
10g.99851587G>ACA378130914ABCC2c.4594G>A (p.Ala1532Thr)
c.664G>A
c.3898G>A (p.Ala1300Thr)
gnomAD v4
10g.99851587G>CCA378130916ABCC2c.4594G>C (p.Ala1532Pro)
c.664G>C
c.3898G>C (p.Ala1300Pro)
10g.99851587G>TCA378130918ABCC2c.4594G>T (p.Ala1532Ser)
c.664G>T
c.3898G>T (p.Ala1300Ser)
10g.99851587_99851588insACA2573817794ABCC2c.4594_4595insA (p.Ala1532AspfsTer2)
c.664_665insA
c.3898_3899insA (p.Ala1300AspfsTer2)
10g.99851588C>ACA378130923ABCC2c.4595C>A (p.Ala1532Asp)
c.665C>A
c.3899C>A (p.Ala1300Asp)
10g.99851588C>GCA378130922ABCC2c.4595C>G (p.Ala1532Gly)
c.665C>G
c.3899C>G (p.Ala1300Gly)
10g.99851588C>TCA378130920ABCC2c.4595C>T (p.Ala1532Val)
c.665C>T
c.3899C>T (p.Ala1300Val)
10g.99851589T>ACA471136082ABCC2c.4596T>A (p.Ala1532=)
c.666T>A
c.3900T>A (p.Ala1300=)
10g.99851589T>CCA471136083ABCC2c.4596T>C (p.Ala1532=)
c.666T>C
c.3900T>C (p.Ala1300=)
10g.99851589T>GCA471136084ABCC2c.4596T>G (p.Ala1532=)
c.666T>G
c.3900T>G (p.Ala1300=)
10g.99851590A>CCA378130925ABCC2c.4597A>C (p.Lys1533Gln)
c.667A>C
c.3901A>C (p.Lys1301Gln)
10g.99851590A>GCA378130926ABCC2c.4597A>G (p.Lys1533Glu)
c.667A>G
c.3901A>G (p.Lys1301Glu)
gnomAD v4
10g.99851590A>TCA378130928ABCC2c.4597A>T (p.Lys1533Ter)
c.667A>T
c.3901A>T (p.Lys1301Ter)
gnomAD v4
10g.99851591A>CCA378130929ABCC2c.4598A>C (p.Lys1533Thr)
c.668A>C
c.3902A>C (p.Lys1301Thr)
10g.99851591A>GCA378130931ABCC2c.4598A>G (p.Lys1533Arg)
c.668A>G
c.3902A>G (p.Lys1301Arg)
10g.99851591A>TCA378130932ABCC2c.4598A>T (p.Lys1533Met)
c.668A>T
c.3902A>T (p.Lys1301Met)
10g.99851592G>ACA471136085ABCC2c.4599G>A (p.Lys1533=)
c.669G>A
c.3903G>A (p.Lys1301=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.99851592G>CCA378130934ABCC2c.4599G>C (p.Lys1533Asn)
c.669G>C
c.3903G>C (p.Lys1301Asn)
10g.99851592G=CA1931484821ABCC2c.4599G= (p.Lys1533=)
c.669G=
c.3903G= (p.Lys1301=)
10g.99851592G>TCA378130936ABCC2c.4599G>T (p.Lys1533Asn)
c.669G>T
c.3903G>T (p.Lys1301Asn)
10g.99851593G>ACA378130937ABCC2c.4600G>A (p.Glu1534Lys)
c.670G>A
c.3904G>A (p.Glu1302Lys)
COSMIC
10g.99851593G>CCA378130939ABCC2c.4600G>C (p.Glu1534Gln)
c.670G>C
c.3904G>C (p.Glu1302Gln)
10g.99851593G>TCA378130940ABCC2c.4600G>T (p.Glu1534Ter)
c.670G>T
c.3904G>T (p.Glu1302Ter)
10g.99851594A=CA1931484824ABCC2c.4601A= (p.Glu1534=)
c.671A=
c.3905A= (p.Glu1302=)
10g.99851594A>CCA378130942ABCC2c.4601A>C (p.Glu1534Ala)
c.671A>C
c.3905A>C (p.Glu1302Ala)
dbSNP gnomAD v2 gnomAD v4
10g.99851594A>GCA378130944ABCC2c.4601A>G (p.Glu1534Gly)
c.671A>G
c.3905A>G (p.Glu1302Gly)
10g.99851594A>TCA378130945ABCC2c.4601A>T (p.Glu1534Val)
c.671A>T
c.3905A>T (p.Glu1302Val)
10g.99851595A>CCA378130946ABCC2c.4602A>C (p.Glu1534Asp)
c.672A>C
c.3906A>C (p.Glu1302Asp)
10g.99851595A>GCA471136086ABCC2c.4602A>G (p.Glu1534=)
c.672A>G
c.3906A>G (p.Glu1302=)
10g.99851595A>TCA378130948ABCC2c.4602A>T (p.Glu1534Asp)
c.672A>T
c.3906A>T (p.Glu1302Asp)
10g.99851596G>ACA378130949ABCC2c.4603G>A (p.Ala1535Thr)
c.673G>A
c.3907G>A (p.Ala1303Thr)
10g.99851596G>CCA378130951ABCC2c.4603G>C (p.Ala1535Pro)
c.673G>C
c.3907G>C (p.Ala1303Pro)
gnomAD v4
10g.99851596G>TCA378130953ABCC2c.4603G>T (p.Ala1535Ser)
c.673G>T
c.3907G>T (p.Ala1303Ser)
10g.99851597C>ACA378130955ABCC2c.4604C>A (p.Ala1535Asp)
c.674C>A
c.3908C>A (p.Ala1303Asp)
10g.99851597C>GCA378130956ABCC2c.4604C>G (p.Ala1535Gly)
c.674C>G
c.3908C>G (p.Ala1303Gly)
10g.99851597C>TCA378130958ABCC2c.4604C>T (p.Ala1535Val)
c.674C>T
c.3908C>T (p.Ala1303Val)
gnomAD v4
10g.99851598T>ACA471136087ABCC2c.4605T>A (p.Ala1535=)
c.675T>A
c.3909T>A (p.Ala1303=)
10g.99851598T>CCA471136088ABCC2c.4605T>C (p.Ala1535=)
c.675T>C
c.3909T>C (p.Ala1303=)
ClinVar
10g.99851598T>GCA471136089ABCC2c.4605T>G (p.Ala1535=)
c.675T>G
c.3909T>G (p.Ala1303=)
10g.99851599G>ACA378130960ABCC2c.4606G>A (p.Gly1536Ser)
c.676G>A
c.3910G>A (p.Gly1304Ser)
gnomAD v4
10g.99851599G>CCA378130961ABCC2c.4606G>C (p.Gly1536Arg)
c.676G>C
c.3910G>C (p.Gly1304Arg)
10g.99851599G>TCA378130962ABCC2c.4606G>T (p.Gly1536Cys)
c.676G>T
c.3910G>T (p.Gly1304Cys)
10g.99851600G>ACA378130965ABCC2c.4607G>A (p.Gly1536Asp)
c.677G>A
c.3911G>A (p.Gly1304Asp)
10g.99851600G>CCA378130966ABCC2c.4607G>C (p.Gly1536Ala)
c.677G>C
c.3911G>C (p.Gly1304Ala)
10g.99851600G=CA1931484833ABCC2c.4607G= (p.Gly1536=)
c.677G=
c.3911G= (p.Gly1304=)
10g.99851600G>TCA378130968ABCC2c.4607G>T (p.Gly1536Val)
c.677G>T
c.3911G>T (p.Gly1304Val)
dbSNP gnomAD v2 gnomAD v4
10g.99851601C>ACA471136090ABCC2c.4608C>A (p.Gly1536=)
c.678C>A
c.3912C>A (p.Gly1304=)
10g.99851601C>GCA471136091ABCC2c.4608C>G (p.Gly1536=)
c.678C>G
c.3912C>G (p.Gly1304=)
10g.99851601C>TCA471136092ABCC2c.4608C>T (p.Gly1536=)
c.678C>T
c.3912C>T (p.Gly1304=)
COSMIC
10g.99851602A>CCA378130969ABCC2c.4609A>C (p.Ile1537Leu)
c.679A>C
c.3913A>C (p.Ile1305Leu)
10g.99851602A>GCA378130973ABCC2c.4609A>G (p.Ile1537Val)
c.679A>G
c.3913A>G (p.Ile1305Val)
10g.99851602A>TCA378130971ABCC2c.4609A>T (p.Ile1537Phe)
c.679A>T
c.3913A>T (p.Ile1305Phe)
10g.99851603T>ACA378130974ABCC2c.4610T>A (p.Ile1537Asn)
c.680T>A
c.3914T>A (p.Ile1305Asn)
10g.99851603T>CCA5644198ABCC2c.4610T>C (p.Ile1537Thr)
c.680T>C
c.3914T>C (p.Ile1305Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851603T>GCA378130976ABCC2c.4610T>G (p.Ile1537Ser)
c.680T>G
c.3914T>G (p.Ile1305Ser)
10g.99851603T=CA1931484841ABCC2c.4610T= (p.Ile1537=)
c.680T=
c.3914T= (p.Ile1305=)
10g.99851604T>ACA471136093ABCC2c.4611T>A (p.Ile1537=)
c.681T>A
c.3915T>A (p.Ile1305=)
10g.99851604T>CCA471136094ABCC2c.4611T>C (p.Ile1537=)
c.681T>C
c.3915T>C (p.Ile1305=)
10g.99851604T>GCA378130978ABCC2c.4611T>G (p.Ile1537Met)
c.681T>G
c.3915T>G (p.Ile1305Met)
10g.99851605G>ACA378130980ABCC2c.4612G>A (p.Glu1538Lys)
c.682G>A
c.3916G>A (p.Glu1306Lys)
dbSNP gnomAD v4 COSMIC
10g.99851605G>CCA378130981ABCC2c.4612G>C (p.Glu1538Gln)
c.682G>C
c.3916G>C (p.Glu1306Gln)
10g.99851605G>TCA378130982ABCC2c.4612G>T (p.Glu1538Ter)
c.682G>T
c.3916G>T (p.Glu1306Ter)
10g.99851606A>CCA378130988ABCC2c.4613A>C (p.Glu1538Ala)
c.683A>C
c.3917A>C (p.Glu1306Ala)
10g.99851606A>GCA378130984ABCC2c.4613A>G (p.Glu1538Gly)
c.683A>G
c.3917A>G (p.Glu1306Gly)
10g.99851606A>TCA378130986ABCC2c.4613A>T (p.Glu1538Val)
c.683A>T
c.3917A>T (p.Glu1306Val)
10g.99851607G>ACA471136095ABCC2c.4614G>A (p.Glu1538=)
c.684G>A
c.3918G>A (p.Glu1306=)
dbSNP
10g.99851607G>CCA5644199ABCC2c.4614G>C (p.Glu1538Asp)
c.684G>C
c.3918G>C (p.Glu1306Asp)
dbSNP ExAC gnomAD v2
10g.99851607G=CA1931484844ABCC2c.4614G= (p.Glu1538=)
c.684G=
c.3918G= (p.Glu1306=)
10g.99851607G>TCA378130990ABCC2c.4614G>T (p.Glu1538Asp)
c.684G>T
c.3918G>T (p.Glu1306Asp)
10g.99851607_99851608delinsGACA1931484845ABCC2c.4614_4615delinsGA (p.Glu1538=)
c.684_685delinsGA
c.3918_3919delinsGA (p.Glu1306=)
10g.99851608A>CCA378130991ABCC2c.4615A>C (p.Asn1539His)
c.685A>C
c.3919A>C (p.Asn1307His)
10g.99851608A>GCA378130993ABCC2c.4615A>G (p.Asn1539Asp)
c.685A>G
c.3919A>G (p.Asn1307Asp)
10g.99851608A>TCA378130995ABCC2c.4615A>T (p.Asn1539Tyr)
c.685A>T
c.3919A>T (p.Asn1307Tyr)
10g.99851609delCA1931484849ABCC2c.4616del (p.Asn1539MetfsTer2)
c.686del
c.3920del (p.Asn1307MetfsTer2)
dbSNP
10g.99851609A>CCA378130997ABCC2c.4616A>C (p.Asn1539Thr)
c.686A>C
c.3920A>C (p.Asn1307Thr)
10g.99851609A>GCA378130999ABCC2c.4616A>G (p.Asn1539Ser)
c.686A>G
c.3920A>G (p.Asn1307Ser)
10g.99851609A>TCA378130998ABCC2c.4616A>T (p.Asn1539Ile)
c.686A>T
c.3920A>T (p.Asn1307Ile)
10g.99851610T>ACA378131000ABCC2c.4617T>A (p.Asn1539Lys)
c.687T>A
c.3921T>A (p.Asn1307Lys)
10g.99851610T>CCA471136096ABCC2c.4617T>C (p.Asn1539=)
c.687T>C
c.3921T>C (p.Asn1307=)
10g.99851610T>GCA378131001ABCC2c.4617T>G (p.Asn1539Lys)
c.687T>G
c.3921T>G (p.Asn1307Lys)
10g.99851611G>ACA378131002ABCC2c.4618G>A (p.Val1540Met)
c.688G>A
c.3922G>A (p.Val1308Met)
10g.99851611G>CCA378131003ABCC2c.4618G>C (p.Val1540Leu)
c.688G>C
c.3922G>C (p.Val1308Leu)
10g.99851611G>TCA378131004ABCC2c.4618G>T (p.Val1540Leu)
c.688G>T
c.3922G>T (p.Val1308Leu)
10g.99851612T>ACA378131006ABCC2c.4619T>A (p.Val1540Glu)
c.689T>A
c.3923T>A (p.Val1308Glu)
gnomAD v4
10g.99851612T>CCA378131007ABCC2c.4619T>C (p.Val1540Ala)
c.689T>C
c.3923T>C (p.Val1308Ala)
gnomAD v4
10g.99851612T>GCA378131008ABCC2c.4619T>G (p.Val1540Gly)
c.689T>G
c.3923T>G (p.Val1308Gly)
10g.99851613G>ACA471136097ABCC2c.4620G>A (p.Val1540=)
c.690G>A
c.3924G>A (p.Val1308=)
dbSNP gnomAD v4
10g.99851613G>CCA471136098ABCC2c.4620G>C (p.Val1540=)
c.690G>C
c.3924G>C (p.Val1308=)
10g.99851613G>TCA471136099ABCC2c.4620G>T (p.Val1540=)
c.690G>T
c.3924G>T (p.Val1308=)
10g.99851614A>CCA378131009ABCC2c.4621A>C (p.Asn1541His)
c.691A>C
c.3925A>C (p.Asn1309His)
10g.99851614A>GCA378131011ABCC2c.4621A>G (p.Asn1541Asp)
c.691A>G
c.3925A>G (p.Asn1309Asp)
10g.99851614A>TCA378131013ABCC2c.4621A>T (p.Asn1541Tyr)
c.691A>T
c.3925A>T (p.Asn1309Tyr)
10g.99851615A>CCA378131014ABCC2c.4622A>C (p.Asn1541Thr)
c.692A>C
c.3926A>C (p.Asn1309Thr)
10g.99851615A>GCA378131017ABCC2c.4622A>G (p.Asn1541Ser)
c.692A>G
c.3926A>G (p.Asn1309Ser)
10g.99851615A>TCA378131016ABCC2c.4622A>T (p.Asn1541Ile)
c.692A>T
c.3926A>T (p.Asn1309Ile)
10g.99851616C>ACA378131018ABCC2c.4623C>A (p.Asn1541Lys)
c.693C>A
c.3927C>A (p.Asn1309Lys)
10g.99851616C=CA1931484852ABCC2c.4623C= (p.Asn1541=)
c.693C=
c.3927C= (p.Asn1309=)
10g.99851616C>GCA378131020ABCC2c.4623C>G (p.Asn1541Lys)
c.693C>G
c.3927C>G (p.Asn1309Lys)
10g.99851616C>TCA471136100ABCC2c.4623C>T (p.Asn1541=)
c.693C>T
c.3927C>T (p.Asn1309=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851616_99851617delinsCACA1931484855ABCC2c.4623_4624delinsCA (p.Asn1541=)
c.693_694delinsCA
c.3927_3928delinsCA (p.Asn1309=)
10g.99851617delCA1931484857ABCC2c.4624del (p.Ser1542AlafsTer?)
c.694del
c.3928del (p.Ser1310AlafsTer?)
dbSNP gnomAD v4
10g.99851617A>CCA378131021ABCC2c.4624A>C (p.Ser1542Arg)
c.694A>C
c.3928A>C (p.Ser1310Arg)
10g.99851617A>GCA378131022ABCC2c.4624A>G (p.Ser1542Gly)
c.694A>G
c.3928A>G (p.Ser1310Gly)
gnomAD v4
10g.99851617A>TCA378131023ABCC2c.4624A>T (p.Ser1542Cys)
c.694A>T
c.3928A>T (p.Ser1310Cys)
10g.99851618G>ACA378131025ABCC2c.4625G>A (p.Ser1542Asn)
c.695G>A
c.3929G>A (p.Ser1310Asn)
dbSNP
10g.99851618G>CCA378131026ABCC2c.4625G>C (p.Ser1542Thr)
c.695G>C
c.3929G>C (p.Ser1310Thr)
10g.99851618G>TCA378131027ABCC2c.4625G>T (p.Ser1542Ile)
c.695G>T
c.3929G>T (p.Ser1310Ile)
10g.99851619C>ACA378131029ABCC2c.4626C>A (p.Ser1542Arg)
c.696C>A
c.3930C>A (p.Ser1310Arg)
gnomAD v4
10g.99851619C>GCA378131030ABCC2c.4626C>G (p.Ser1542Arg)
c.696C>G
c.3930C>G (p.Ser1310Arg)
10g.99851619C>TCA471136101ABCC2c.4626C>T (p.Ser1542=)
c.696C>T
c.3930C>T (p.Ser1310=)
10g.99851620A>CCA378131032ABCC2c.4627A>C (p.Thr1543Pro)
c.697A>C
c.3931A>C (p.Thr1311Pro)
10g.99851620A>GCA378131034ABCC2c.4627A>G (p.Thr1543Ala)
c.697A>G
c.3931A>G (p.Thr1311Ala)
10g.99851620A>TCA378131036ABCC2c.4627A>T (p.Thr1543Ser)
c.697A>T
c.3931A>T (p.Thr1311Ser)
10g.99851621C>ACA378131038ABCC2c.4628C>A (p.Thr1543Lys)
c.698C>A
c.3932C>A (p.Thr1311Lys)
10g.99851621C>GCA378131041ABCC2c.4628C>G (p.Thr1543Arg)
c.698C>G
c.3932C>G (p.Thr1311Arg)
10g.99851621C>TCA378131040ABCC2c.4628C>T (p.Thr1543Ile)
c.698C>T
c.3932C>T (p.Thr1311Ile)
gnomAD v4
10g.99851622A=CA1931484860ABCC2c.4629A= (p.Thr1543=)
c.699A=
c.3933A= (p.Thr1311=)
10g.99851622A>CCA471136102ABCC2c.4629A>C (p.Thr1543=)
c.699A>C
c.3933A>C (p.Thr1311=)
10g.99851622A>GCA5644200ABCC2c.4629A>G (p.Thr1543=)
c.699A>G
c.3933A>G (p.Thr1311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851622A>TCA471136103ABCC2c.4629A>T (p.Thr1543=)
c.699A>T
c.3933A>T (p.Thr1311=)
10g.99851623A>CCA378131045ABCC2c.4630A>C (p.Lys1544Gln)
c.700A>C
c.3934A>C (p.Lys1312Gln)
10g.99851623A>GCA378131046ABCC2c.4630A>G (p.Lys1544Glu)
c.700A>G
c.3934A>G (p.Lys1312Glu)
10g.99851623A>TCA378131047ABCC2c.4630A>T (p.Lys1544Ter)
c.700A>T
c.3934A>T (p.Lys1312Ter)
10g.99851624A=CA1931484863ABCC2c.4631A= (p.Lys1544=)
c.701A=
c.3935A= (p.Lys1312=)
10g.99851624A>CCA378131049ABCC2c.4631A>C (p.Lys1544Thr)
c.701A>C
c.3935A>C (p.Lys1312Thr)
10g.99851624A>GCA378131051ABCC2c.4631A>G (p.Lys1544Arg)
c.701A>G
c.3935A>G (p.Lys1312Arg)
10g.99851624A>TCA378131052ABCC2c.4631A>T (p.Lys1544Ile)
c.701A>T
c.3935A>T (p.Lys1312Ile)
dbSNP gnomAD v3 gnomAD v4
10g.99851625A>CCA378131054ABCC2c.4632A>C (p.Lys1544Asn)
c.702A>C
c.3936A>C (p.Lys1312Asn)
10g.99851625A>GCA471136104ABCC2c.4632A>G (p.Lys1544=)
c.702A>G
c.3936A>G (p.Lys1312=)
10g.99851625A>TCA378131057ABCC2c.4632A>T (p.Lys1544Asn)
c.702A>T
c.3936A>T (p.Lys1312Asn)
10g.99851626T>ACA378131063ABCC2c.4633T>A (p.Phe1545Ile)
c.703T>A
c.3937T>A (p.Phe1313Ile)
10g.99851626T>CCA378131061ABCC2c.4633T>C (p.Phe1545Leu)
c.703T>C
c.3937T>C (p.Phe1313Leu)
10g.99851626T>GCA378131058ABCC2c.4633T>G (p.Phe1545Val)
c.703T>G
c.3937T>G (p.Phe1313Val)
10g.99851627T>ACA378131069ABCC2c.4634T>A (p.Phe1545Tyr)
c.704T>A
c.3938T>A (p.Phe1313Tyr)
10g.99851627T>CCA378131073ABCC2c.4634T>C (p.Phe1545Ser)
c.704T>C
c.3938T>C (p.Phe1313Ser)
10g.99851627T>GCA378131071ABCC2c.4634T>G (p.Phe1545Cys)
c.704T>G
c.3938T>G (p.Phe1313Cys)
10g.99851628C>ACA378131075ABCC2c.4635C>A (p.Phe1545Leu)
c.705C>A
c.3939C>A (p.Phe1313Leu)
10g.99851628C=CA1931484864ABCC2c.4635C= (p.Phe1545=)
c.705C=
c.3939C= (p.Phe1313=)
10g.99851628C>GCA378131076ABCC2c.4635C>G (p.Phe1545Leu)
c.705C>G
c.3939C>G (p.Phe1313Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.99851628C>TCA471136105ABCC2c.4635C>T (p.Phe1545=)
c.705C>T
c.3939C>T (p.Phe1313=)
10g.99851629T>ACA378131079ABCC2c.4636T>A (p.Ter1546Lys)
c.706T>A
c.3940T>A (p.Ter1314Lys)
10g.99851629T>CCA378131086ABCC2c.4636T>C (p.Ter1546Gln)
c.706T>C
c.3940T>C (p.Ter1314Gln)
10g.99851629T>GCA378131088ABCC2c.4636T>G (p.Ter1546Glu)
c.706T>G
c.3940T>G (p.Ter1314Glu)
10g.99851630A>CCA378131090ABCC2c.4637A>C (p.Ter1546Ser)
c.707A>C
c.3941A>C (p.Ter1314Ser)
10g.99851630A>GCA378131092ABCC2c.4637A>G (p.Ter1546Trp)
c.707A>G
c.3941A>G (p.Ter1314Trp)
10g.99851630A>TCA378131093ABCC2c.4637A>T (p.Ter1546Leu)
c.707A>T
c.3941A>T (p.Ter1314Leu)
10g.99851631G>ACA471136106ABCC2c.4638G>A (p.Ter1546=)
c.708G>A
c.3942G>A (p.Ter1314=)
dbSNP gnomAD v2 gnomAD v4
10g.99851631G>CCA378131096ABCC2c.4638G>C (p.Ter1546Tyr)
c.708G>C
c.3942G>C (p.Ter1314Tyr)
10g.99851631G=CA1931484865ABCC2c.4638G= (p.Ter1546=)
c.708G=
c.3942G= (p.Ter1314=)
10g.99851631G>TCA378131098ABCC2c.4638G>T (p.Ter1546Tyr)
c.708G>T
c.3942G>T (p.Ter1314Tyr)
10g.99851632C>ACA212873078ABCC2c.*1C>A (n.*1C>A)
c.709C>A
dbSNP
10g.99851632C=CA1931484867ABCC2c.*1C= (n.*1C=)
c.709C=
10g.99851632C>TCA2610498402ABCC2c.*1C>T (n.*1C>T)
c.709C>T
gnomAD v4
10g.99851634G>ACA2722455788ABCC2c.*3G>A (n.*3G>A)
c.711G>A
dbSNP
10g.99851634G>CCA2610498403ABCC2c.*3G>C (n.*3G>C)
c.711G>C
gnomAD v4
10g.99851636A=CA1931484870ABCC2c.*5A= (n.*5A=)
c.713A=
10g.99851636_99851637insTTCTAACCATGCA931724889ABCC2c.*5_*6insTTCTAACCATG (n.*5_*6insTTCTAACCATG)
c.713_714insTTCTAACCATG
dbSNP gnomAD v3 gnomAD v4
10g.99851637G>CCA2610498404ABCC2c.*6G>C (n.*6G>C)
c.714G>C
gnomAD v4
10g.99851638G=CA1931484871ABCC2c.*7G= (n.*7G=)
c.715G=
10g.99851639C=CA1931484878ABCC2c.*8C= (n.*8C=)
c.716C=
10g.99851639C>GCA931724892ABCC2c.*8C>G (n.*8C>G)
c.716C>G
dbSNP gnomAD v3 gnomAD v4
10g.99851639C>TCA1931484883ABCC2c.*8C>T (n.*8C>T)
c.716C>T
dbSNP
10g.99851642dupCA595453945ABCC2c.*11dup (n.*11dup)
c.719dup
dbSNP gnomAD v2 gnomAD v4
10g.99851640C>TCA2589023984ABCC2c.*9C>T (n.*9C>T)
c.717C>T
dbSNP gnomAD v3 gnomAD v4
10g.99851642C=CA1931484889ABCC2c.*11C= (n.*11C=)
c.719C=
10g.99851642C>GCA1931484886ABCC2c.*11C>G (n.*11C>G)
c.719C>G
dbSNP
10g.99851642C>TCA2610498405ABCC2c.*11C>T (n.*11C>T)
c.719C>T
gnomAD v4
10g.99851643A=CA1931484892ABCC2c.*12A= (n.*12A=)
c.720A=
10g.99851643A>GCA5644201ABCC2c.*12A>G (n.*12A>G)
c.720A>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851644T>ACA5644202ABCC2c.*13T>A (n.*13T>A)
c.721T>A
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851644T>GCA2610498406ABCC2c.*13T>G (n.*13T>G)
c.721T>G
gnomAD v4
10g.99851644T=CA1931484896ABCC2c.*13T= (n.*13T=)
c.721T=
10g.99851645G>TCA2789199293ABCC2c.*14G>T (n.*14G>T)
c.722G>T
10g.99851646G>ACA2573817795ABCC2c.*15G>A (n.*15G>A)
c.723G>A
dbSNP
10g.99851647G>ACA5644203ABCC2c.*16G>A (n.*16G>A)
c.724G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.99851647G>CCA2574638795ABCC2c.*16G>C (n.*16G>C)
c.724G>C
gnomAD v4
10g.99851647G=CA1931484899ABCC2c.*16G= (n.*16G=)
c.724G=
10g.99851650A>GCA2573817796ABCC2c.*19A>G (n.*19A>G)
c.727A>G
gnomAD v4
10g.99851651_99851652delCA2574638796ABCC2c.*20_*21del (n.*20_*21del)
c.728_729del
10g.99851651G>CCA2610498407ABCC2c.*20G>C (n.*20G>C)
c.728G>C
gnomAD v4
10g.99851652A=CA1931484903ABCC2c.*21A= (n.*21A=)
c.729A=
10g.99851652A>GCA5644204ABCC2c.*21A>G (n.*21A>G)
c.729A>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851655delCA2610498408ABCC2c.*24del (n.*24del)
c.732del
gnomAD v4
10g.99851655A>GCA2610498409ABCC2c.*24A>G (n.*24A>G)
c.732A>G
gnomAD v4
10g.99851656G=CA1931484906ABCC2c.*25G= (n.*25G=)
c.733G=
10g.99851656G>TCA5644205ABCC2c.*25G>T (n.*25G>T)
c.733G>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.99851659C>ACA2610498410ABCC2c.*28C>A (n.*28C>A)
c.736C>A
gnomAD v4
10g.99851660T>CCA670642932ABCC2c.*29T>C (n.*29T>C)
c.737T>C
dbSNP gnomAD v3 gnomAD v4
10g.99851660T=CA1931484910ABCC2c.*29T= (n.*29T=)
c.737T=
10g.99851661A=CA1931484917ABCC2c.*30A= (n.*30A=)
c.738A=
10g.99851661A>GCA595453946ABCC2c.*30A>G (n.*30A>G)
c.738A>G
dbSNP gnomAD v2 gnomAD v4
10g.99851662T>CCA670642936ABCC2c.*31T>C (n.*31T>C)
c.739T>C
dbSNP
10g.99851662T=CA1931484920ABCC2c.*31T= (n.*31T=)
c.739T=

Number of alleles fetched