Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.132327243G>ACA375326436SETXc.4355C>T (p.Pro1452Leu)
n.4539C>T
dbSNP gnomAD v4
9g.132327243G>CCA375326437SETXc.4355C>G (p.Pro1452Arg)
n.4539C>G
9g.132327243G>TCA375326438SETXc.4355C>A (p.Pro1452Gln)
n.4539C>A
9g.132327244G>ACA375326440SETXc.4354C>T (p.Pro1452Ser)
n.4538C>T
9g.132327244G>CCA5297217SETXc.4354C>G (p.Pro1452Ala)
n.4538C>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327244G=CA1882147258SETXc.4354C= (p.Pro1452=)
n.4538C=
9g.132327244G>TCA375326439SETXc.4354C>A (p.Pro1452Thr)
n.4538C>A
9g.132327245T>ACA467806386SETXc.4353A>T (p.Val1451=)
n.4537A>T
9g.132327245T>CCA5297218SETXc.4353A>G (p.Val1451=)
n.4537A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327245T>GCA467806385SETXc.4353A>C (p.Val1451=)
n.4537A>C
9g.132327245T=CA1882147259SETXc.4353A= (p.Val1451=)
n.4537A=
9g.132327246A>CCA375326441SETXc.4352T>G (p.Val1451Gly)
n.4536T>G
9g.132327246A>GCA375326442SETXc.4352T>C (p.Val1451Ala)
n.4536T>C
gnomAD v4
9g.132327246A>TCA375326443SETXc.4352T>A (p.Val1451Glu)
n.4536T>A
ClinVar gnomAD v4
9g.132327247C>ACA375326444SETXc.4351G>T (p.Val1451Leu)
n.4535G>T
9g.132327247C=CA1882147260SETXc.4351G= (p.Val1451=)
n.4535G=
9g.132327247C>GCA375326445SETXc.4351G>C (p.Val1451Leu)
n.4535G>C
9g.132327247C>TCA375326446SETXc.4351G>A (p.Val1451Ile)
n.4535G>A
dbSNP
9g.132327248T>ACA467806387SETXc.4350A>T (p.Thr1450=)
n.4534A>T
9g.132327248T>CCA467806388SETXc.4350A>G (p.Thr1450=)
n.4534A>G
9g.132327248T>GCA467806389SETXc.4350A>C (p.Thr1450=)
n.4534A>C
9g.132327249_132327251dupCA918568257SETXc.4348_4350dup (p.Thr1450_Val1451insThr)
n.4532_4534dup
dbSNP
9g.132327249G>ACA375326447SETXc.4349C>T (p.Thr1450Ile)
n.4533C>T
dbSNP gnomAD v3 gnomAD v4
9g.132327249G>CCA375326448SETXc.4349C>G (p.Thr1450Arg)
n.4533C>G
9g.132327249G=CA1882147261SETXc.4349C= (p.Thr1450=)
n.4533C=
9g.132327249G>TCA375326449SETXc.4349C>A (p.Thr1450Lys)
n.4533C>A
9g.132327250T>ACA375326450SETXc.4348A>T (p.Thr1450Ser)
n.4532A>T
9g.132327250T>CCA375326451SETXc.4348A>G (p.Thr1450Ala)
n.4532A>G
gnomAD v4
9g.132327250T>GCA375326452SETXc.4348A>C (p.Thr1450Pro)
n.4532A>C
9g.132327251T>ACA467806390SETXc.4347A>T (p.Gly1449=)
n.4531A>T
9g.132327251T>CCA467806391SETXc.4347A>G (p.Gly1449=)
n.4531A>G
9g.132327251T>GCA467806392SETXc.4347A>C (p.Gly1449=)
n.4531A>C
9g.132327252C>ACA375326454SETXc.4346G>T (p.Gly1449Val)
n.4530G>T
9g.132327252C>GCA375326455SETXc.4346G>C (p.Gly1449Ala)
n.4530G>C
9g.132327252C>TCA375326453SETXc.4346G>A (p.Gly1449Glu)
n.4530G>A
9g.132327253C>ACA375326458SETXc.4345G>T (p.Gly1449Ter)
n.4529G>T
COSMIC
9g.132327253C>GCA375326456SETXc.4345G>C (p.Gly1449Arg)
n.4529G>C
9g.132327253C>TCA375326457SETXc.4345G>A (p.Gly1449Arg)
n.4529G>A
9g.132327254A>CCA375326459SETXc.4344T>G (p.Asn1448Lys)
n.4528T>G
9g.132327254A>GCA467806393SETXc.4344T>C (p.Asn1448=)
n.4528T>C
9g.132327254A>TCA375326460SETXc.4344T>A (p.Asn1448Lys)
n.4528T>A
9g.132327255T>ACA375326461SETXc.4343A>T (p.Asn1448Ile)
n.4527A>T
9g.132327255T>CCA375326462SETXc.4343A>G (p.Asn1448Ser)
n.4527A>G
gnomAD v4
9g.132327255T>GCA375326463SETXc.4343A>C (p.Asn1448Thr)
n.4527A>C
9g.132327256T>ACA375326464SETXc.4342A>T (p.Asn1448Tyr)
n.4526A>T
9g.132327256T>CCA375326465SETXc.4342A>G (p.Asn1448Asp)
n.4526A>G
9g.132327256T>GCA375326466SETXc.4342A>C (p.Asn1448His)
n.4526A>C
9g.132327257T>ACA375326467SETXc.4341A>T (p.Leu1447Phe)
n.4525A>T
9g.132327257T>CCA467806394SETXc.4341A>G (p.Leu1447=)
n.4525A>G
9g.132327257T>GCA375326468SETXc.4341A>C (p.Leu1447Phe)
n.4525A>C
9g.132327258A>CCA375326472SETXc.4340T>G (p.Leu1447Ter)
n.4524T>G
9g.132327258A>GCA375326471SETXc.4340T>C (p.Leu1447Ser)
n.4524T>C
9g.132327258A>TCA375326470SETXc.4340T>A (p.Leu1447Ter)
n.4524T>A
9g.132327259A>CCA375326474SETXc.4339T>G (p.Leu1447Val)
n.4523T>G
9g.132327259A>GCA467806395SETXc.4339T>C (p.Leu1447=)
n.4523T>C
9g.132327259A>TCA375326475SETXc.4339T>A (p.Leu1447Ile)
n.4523T>A
9g.132327260C>ACA467806396SETXc.4338G>T (p.Val1446=)
n.4522G>T
9g.132327260C=CA1882147262SETXc.4338G= (p.Val1446=)
n.4522G=
9g.132327260C>GCA467806397SETXc.4338G>C (p.Val1446=)
n.4522G>C
9g.132327260C>TCA5297219SETXc.4338G>A (p.Val1446=)
n.4522G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327261A>CCA375326478SETXc.4337T>G (p.Val1446Gly)
n.4521T>G
9g.132327261A>GCA375326479SETXc.4337T>C (p.Val1446Ala)
n.4521T>C
9g.132327261A>TCA375326480SETXc.4337T>A (p.Val1446Glu)
n.4521T>A
9g.132327262C>ACA375326482SETXc.4336G>T (p.Val1446Leu)
n.4520G>T
ClinVar dbSNP
9g.132327262C=CA1882147263SETXc.4336G= (p.Val1446=)
n.4520G=
9g.132327262C>GCA375326483SETXc.4336G>C (p.Val1446Leu)
n.4520G>C
9g.132327262C>TCA375326485SETXc.4336G>A (p.Val1446Met)
n.4520G>A
9g.132327263T>ACA467806398SETXc.4335A>T (p.Val1445=)
n.4519A>T
9g.132327263T>CCA467806399SETXc.4335A>G (p.Val1445=)
n.4519A>G
9g.132327263T>GCA467806400SETXc.4335A>C (p.Val1445=)
n.4519A>C
9g.132327264A=CA1882147264SETXc.4334T= (p.Val1445=)
n.4518T=
9g.132327264A>CCA5297221SETXc.4334T>G (p.Val1445Gly)
n.4518T>G
dbSNP ExAC gnomAD v4
9g.132327264A>GCA5297220SETXc.4334T>C (p.Val1445Ala)
n.4518T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327264A>TCA375326488SETXc.4334T>A (p.Val1445Glu)
n.4518T>A
9g.132327265C>ACA375326492SETXc.4333G>T (p.Val1445Leu)
n.4517G>T
9g.132327265C>GCA375326491SETXc.4333G>C (p.Val1445Leu)
n.4517G>C
9g.132327265C>TCA375326490SETXc.4333G>A (p.Val1445Ile)
n.4517G>A
gnomAD v4
9g.132327266A>CCA467806401SETXc.4332T>G (p.Ser1444=)
n.4516T>G
9g.132327266A>GCA467806402SETXc.4332T>C (p.Ser1444=)
n.4516T>C
9g.132327266A>TCA467806403SETXc.4332T>A (p.Ser1444=)
n.4516T>A
gnomAD v4
9g.132327267G>ACA375326494SETXc.4331C>T (p.Ser1444Phe)
n.4515C>T
gnomAD v4
9g.132327267G>CCA375326495SETXc.4331C>G (p.Ser1444Cys)
n.4515C>G
9g.132327267G>TCA375326497SETXc.4331C>A (p.Ser1444Tyr)
n.4515C>A
9g.132327268A>CCA375326499SETXc.4330T>G (p.Ser1444Ala)
n.4514T>G
9g.132327268A>GCA375326501SETXc.4330T>C (p.Ser1444Pro)
n.4514T>C
9g.132327268A>TCA375326502SETXc.4330T>A (p.Ser1444Thr)
n.4514T>A
9g.132327269A>CCA375326504SETXc.4329T>G (p.Asp1443Glu)
n.4513T>G
9g.132327269A>GCA467806404SETXc.4329T>C (p.Asp1443=)
n.4513T>C
9g.132327269A>TCA375326506SETXc.4329T>A (p.Asp1443Glu)
n.4513T>A
9g.132327270T>ACA375326507SETXc.4328A>T (p.Asp1443Val)
n.4512A>T
9g.132327270T>CCA375326508SETXc.4328A>G (p.Asp1443Gly)
n.4512A>G
9g.132327270T>GCA375326509SETXc.4328A>C (p.Asp1443Ala)
n.4512A>C
dbSNP gnomAD v3 gnomAD v4
9g.132327270T=CA1882147265SETXc.4328A= (p.Asp1443=)
n.4512A=
9g.132327271C>ACA375326512SETXc.4327G>T (p.Asp1443Tyr)
n.4511G>T
9g.132327271C=CA1882147266SETXc.4327G= (p.Asp1443=)
n.4511G=
9g.132327271C>GCA375326513SETXc.4327G>C (p.Asp1443His)
n.4511G>C
9g.132327271C>TCA200807109SETXc.4327G>A (p.Asp1443Asn)
n.4511G>A
ClinVar dbSNP
9g.132327272A>CCA375326515SETXc.4326T>G (p.Cys1442Trp)
n.4510T>G
9g.132327272A>GCA467806405SETXc.4326T>C (p.Cys1442=)
n.4510T>C
9g.132327272A>TCA375326516SETXc.4326T>A (p.Cys1442Ter)
n.4510T>A
9g.132327273C>ACA375326518SETXc.4325G>T (p.Cys1442Phe)
n.4509G>T
9g.132327273C=CA1882147267SETXc.4325G= (p.Cys1442=)
n.4509G=
9g.132327273C>GCA375326519SETXc.4325G>C (p.Cys1442Ser)
n.4509G>C
9g.132327273C>TCA375326521SETXc.4325G>A (p.Cys1442Tyr)
n.4509G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.132327274A=CA1882147268SETXc.4324T= (p.Cys1442=)
n.4508T=
9g.132327274A>CCA200807113SETXc.4324T>G (p.Cys1442Gly)
n.4508T>G
dbSNP gnomAD v2 gnomAD v4
9g.132327274A>GCA375326523SETXc.4324T>C (p.Cys1442Arg)
n.4508T>C
9g.132327274A>TCA375326525SETXc.4324T>A (p.Cys1442Ser)
n.4508T>A
9g.132327275C>ACA375326527SETXc.4323G>T (p.Gln1441His)
n.4507G>T
9g.132327275C=CA1882147269SETXc.4323G= (p.Gln1441=)
n.4507G=
9g.132327275C>GCA375326528SETXc.4323G>C (p.Gln1441His)
n.4507G>C
9g.132327275C>TCA5297222SETXc.4323G>A (p.Gln1441=)
n.4507G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327276T>ACA375326530SETXc.4322A>T (p.Gln1441Leu)
n.4506A>T
9g.132327276T>CCA5297223SETXc.4322A>G (p.Gln1441Arg)
n.4506A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327276T>GCA375326533SETXc.4322A>C (p.Gln1441Pro)
n.4506A>C
9g.132327276T=CA1882147270SETXc.4322A= (p.Gln1441=)
n.4506A=
9g.132327277G>ACA375326538SETXc.4321C>T (p.Gln1441Ter)
n.4505C>T
dbSNP
9g.132327277G>CCA375326536SETXc.4321C>G (p.Gln1441Glu)
n.4505C>G
dbSNP gnomAD v3 gnomAD v4
9g.132327277G=CA1882147271SETXc.4321C= (p.Gln1441=)
n.4505C=
9g.132327277G>TCA375326534SETXc.4321C>A (p.Gln1441Lys)
n.4505C>A
dbSNP
9g.132327278G>ACA467806406SETXc.4320C>T (p.Asn1440=)
n.4504C>T
9g.132327278G>CCA5297224SETXc.4320C>G (p.Asn1440Lys)
n.4504C>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327278G=CA1882147272SETXc.4320C= (p.Asn1440=)
n.4504C=
9g.132327278G>TCA375326540SETXc.4320C>A (p.Asn1440Lys)
n.4504C>A
9g.132327279T>ACA375326543SETXc.4319A>T (p.Asn1440Ile)
n.4503A>T
9g.132327279T>CCA375326546SETXc.4319A>G (p.Asn1440Ser)
n.4503A>G
9g.132327279T>GCA375326544SETXc.4319A>C (p.Asn1440Thr)
n.4503A>C
9g.132327280T>ACA375326548SETXc.4318A>T (p.Asn1440Tyr)
n.4502A>T
9g.132327280T>CCA375326550SETXc.4318A>G (p.Asn1440Asp)
n.4502A>G
9g.132327280T>GCA375326551SETXc.4318A>C (p.Asn1440His)
n.4502A>C
9g.132327281C>ACA375326553SETXc.4317G>T (p.Leu1439Phe)
n.4501G>T
9g.132327281C>GCA375326555SETXc.4317G>C (p.Leu1439Phe)
n.4501G>C
9g.132327281C>TCA467807686SETXc.4317G>A (p.Leu1439=)
n.4501G>A
9g.132327282A=CA1882147273SETXc.4316T= (p.Leu1439=)
n.4500T=
9g.132327282A>CCA375326557SETXc.4316T>G (p.Leu1439Trp)
n.4500T>G
9g.132327282A>GCA375326558SETXc.4316T>C (p.Leu1439Ser)
n.4500T>C
ClinVar dbSNP
9g.132327282A>TCA375326560SETXc.4316T>A (p.Leu1439Ter)
n.4500T>A
9g.132327283A>CCA375326562SETXc.4315T>G (p.Leu1439Val)
n.4499T>G
9g.132327283A>GCA467807687SETXc.4315T>C (p.Leu1439=)
n.4499T>C
9g.132327283A>TCA375326564SETXc.4315T>A (p.Leu1439Met)
n.4499T>A
9g.132327284A=CA1882147274SETXc.4314T= (p.Pro1438=)
n.4498T=
9g.132327284A>CCA467807688SETXc.4314T>G (p.Pro1438=)
n.4498T>G
dbSNP gnomAD v4
9g.132327284A>GCA467807689SETXc.4314T>C (p.Pro1438=)
n.4498T>C
9g.132327284A>TCA467807690SETXc.4314T>A (p.Pro1438=)
n.4498T>A
9g.132327285G>ACA375326569SETXc.4313C>T (p.Pro1438Leu)
n.4497C>T
9g.132327285G>CCA375326567SETXc.4313C>G (p.Pro1438Arg)
n.4497C>G
gnomAD v4
9g.132327285G>TCA375326566SETXc.4313C>A (p.Pro1438His)
n.4497C>A
9g.132327286G>ACA5297225SETXc.4312C>T (p.Pro1438Ser)
n.4496C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327286G>CCA375326571SETXc.4312C>G (p.Pro1438Ala)
n.4496C>G
9g.132327286G=CA1882147275SETXc.4312C= (p.Pro1438=)
n.4496C=
9g.132327286G>TCA375326573SETXc.4312C>A (p.Pro1438Thr)
n.4496C>A
9g.132327287G>ACA467807691SETXc.4311C>T (p.Cys1437=)
n.4495C>T
9g.132327287G>CCA375326574SETXc.4311C>G (p.Cys1437Trp)
n.4495C>G
9g.132327287G>TCA375326576SETXc.4311C>A (p.Cys1437Ter)
n.4495C>A
9g.132327288C>ACA375326578SETXc.4310G>T (p.Cys1437Phe)
n.4494G>T
9g.132327288C=CA1882147276SETXc.4310G= (p.Cys1437=)
n.4494G=
9g.132327288C>GCA375326580SETXc.4310G>C (p.Cys1437Ser)
n.4494G>C
9g.132327288C>TCA200807132SETXc.4310G>A (p.Cys1437Tyr)
n.4494G>A
dbSNP
9g.132327289A>CCA375326582SETXc.4309T>G (p.Cys1437Gly)
n.4493T>G
9g.132327289A>GCA375326584SETXc.4309T>C (p.Cys1437Arg)
n.4493T>C
9g.132327289A>TCA375326586SETXc.4309T>A (p.Cys1437Ser)
n.4493T>A
9g.132327290A=CA1882147277SETXc.4308T= (p.Ala1436=)
n.4492T=
9g.132327290A>CCA467807692SETXc.4308T>G (p.Ala1436=)
n.4492T>G
9g.132327290A>GCA467807693SETXc.4308T>C (p.Ala1436=)
n.4492T>C
dbSNP gnomAD v3 gnomAD v4
9g.132327290A>TCA467807694SETXc.4308T>A (p.Ala1436=)
n.4492T>A
9g.132327291G>ACA375326589SETXc.4307C>T (p.Ala1436Val)
n.4491C>T
gnomAD v4
9g.132327291G>CCA375326588SETXc.4307C>G (p.Ala1436Gly)
n.4491C>G
9g.132327291G>TCA375326587SETXc.4307C>A (p.Ala1436Asp)
n.4491C>A
9g.132327292C>ACA375326591SETXc.4306G>T (p.Ala1436Ser)
n.4490G>T
9g.132327292C>GCA375326593SETXc.4306G>C (p.Ala1436Pro)
n.4490G>C
9g.132327292C>TCA375326595SETXc.4306G>A (p.Ala1436Thr)
n.4490G>A
9g.132327293A>CCA375326596SETXc.4305T>G (p.Asp1435Glu)
n.4489T>G
gnomAD v4
9g.132327293A>GCA467807695SETXc.4305T>C (p.Asp1435=)
n.4489T>C
9g.132327293A>TCA375326598SETXc.4305T>A (p.Asp1435Glu)
n.4489T>A
9g.132327294T>ACA5297226SETXc.4304A>T (p.Asp1435Val)
n.4488A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327294T>CCA375326601SETXc.4304A>G (p.Asp1435Gly)
n.4488A>G
9g.132327294T>GCA375326602SETXc.4304A>C (p.Asp1435Ala)
n.4488A>C
9g.132327294T=CA1882147278SETXc.4304A= (p.Asp1435=)
n.4488A=
9g.132327295C>ACA375326603SETXc.4303G>T (p.Asp1435Tyr)
n.4487G>T
9g.132327295C>GCA375326604SETXc.4303G>C (p.Asp1435His)
n.4487G>C
9g.132327295C>TCA375326606SETXc.4303G>A (p.Asp1435Asn)
n.4487G>A
gnomAD v4
9g.132327296A=CA1882147279SETXc.4302T= (p.Asp1434=)
n.4486T=
9g.132327296A>CCA375326611SETXc.4302T>G (p.Asp1434Glu)
n.4486T>G
9g.132327296A>GCA5297227SETXc.4302T>C (p.Asp1434=)
n.4486T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327296A>TCA375326609SETXc.4302T>A (p.Asp1434Glu)
n.4486T>A
9g.132327297T>ACA375326613SETXc.4301A>T (p.Asp1434Val)
n.4485A>T
9g.132327297T>CCA375326614SETXc.4301A>G (p.Asp1434Gly)
n.4485A>G
dbSNP
9g.132327297T>GCA375326616SETXc.4301A>C (p.Asp1434Ala)
n.4485A>C
9g.132327297T=CA1882147280SETXc.4301A= (p.Asp1434=)
n.4485A=
9g.132327298C>ACA375326617SETXc.4300G>T (p.Asp1434Tyr)
n.4484G>T
9g.132327298C>GCA375326619SETXc.4300G>C (p.Asp1434His)
n.4484G>C
9g.132327298C>TCA375326621SETXc.4300G>A (p.Asp1434Asn)
n.4484G>A
9g.132327299A=CA1882147281SETXc.4299T= (p.Thr1433=)
n.4483T=
9g.132327299A>CCA467807696SETXc.4299T>G (p.Thr1433=)
n.4483T>G
9g.132327299A>GCA5297228SETXc.4299T>C (p.Thr1433=)
n.4483T>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.132327299A>TCA467807697SETXc.4299T>A (p.Thr1433=)
n.4483T>A
9g.132327300G>ACA375326624SETXc.4298C>T (p.Thr1433Ile)
n.4482C>T
gnomAD v4
9g.132327300G>CCA375326625SETXc.4298C>G (p.Thr1433Ser)
n.4482C>G
gnomAD v4
9g.132327300G=CA1882147282SETXc.4298C= (p.Thr1433=)
n.4482C=
9g.132327300G>TCA375326626SETXc.4298C>A (p.Thr1433Asn)
n.4482C>A
9g.132327301T>ACA375326628SETXc.4297A>T (p.Thr1433Ser)
n.4481A>T
9g.132327301T>CCA200807138SETXc.4297A>G (p.Thr1433Ala)
n.4481A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.132327301T>GCA375326630SETXc.4297A>C (p.Thr1433Pro)
n.4481A>C
9g.132327301T=CA1882147283SETXc.4297A= (p.Thr1433=)
n.4481A=
9g.132327302dupCA860630293SETXc.4297dup (p.Thr1433AsnfsTer2)
n.4481dup
dbSNP gnomAD v3 gnomAD v4
9g.132327302T>ACA467807698SETXc.4296A>T (p.Ala1432=)
n.4480A>T
9g.132327302T>CCA467807699SETXc.4296A>G (p.Ala1432=)
n.4480A>G
9g.132327302T>GCA467807700SETXc.4296A>C (p.Ala1432=)
n.4480A>C
9g.132327303G>ACA375326634SETXc.4295C>T (p.Ala1432Val)
n.4479C>T
9g.132327303G>CCA375326636SETXc.4295C>G (p.Ala1432Gly)
n.4479C>G
9g.132327303G>TCA375326632SETXc.4295C>A (p.Ala1432Glu)
n.4479C>A
9g.132327303dupCA2695211648SETXc.4295dup (p.Thr1433AsnfsTer2)
n.4479dup
9g.132327304C>ACA375326640SETXc.4294G>T (p.Ala1432Ser)
n.4478G>T
9g.132327304C>GCA375326638SETXc.4294G>C (p.Ala1432Pro)
n.4478G>C
9g.132327304C>TCA375326639SETXc.4294G>A (p.Ala1432Thr)
n.4478G>A
9g.132327305T>ACA467807701SETXc.4293A>T (p.Pro1431=)
n.4477A>T
9g.132327305T>CCA467807702SETXc.4293A>G (p.Pro1431=)
n.4477A>G
9g.132327305T>GCA467807703SETXc.4293A>C (p.Pro1431=)
n.4477A>C
9g.132327306G>ACA375326641SETXc.4292C>T (p.Pro1431Leu)
n.4476C>T
dbSNP gnomAD v4
9g.132327306G>CCA375326642SETXc.4292C>G (p.Pro1431Arg)
n.4476C>G
9g.132327306G=CA1882147284SETXc.4292C= (p.Pro1431=)
n.4476C=
9g.132327306G>TCA375326643SETXc.4292C>A (p.Pro1431Gln)
n.4476C>A
9g.132327307G>ACA375326648SETXc.4291C>T (p.Pro1431Ser)
n.4475C>T
dbSNP gnomAD v2 gnomAD v4
9g.132327307G>CCA5297229SETXc.4291C>G (p.Pro1431Ala)
n.4475C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327307G=CA1882147285SETXc.4291C= (p.Pro1431=)
n.4475C=
9g.132327307G>TCA375326646SETXc.4291C>A (p.Pro1431Thr)
n.4475C>A
9g.132327308A>CCA467807706SETXc.4290T>G (p.Ser1430=)
n.4474T>G
9g.132327308A>GCA467807705SETXc.4290T>C (p.Ser1430=)
n.4474T>C
9g.132327308A>TCA467807704SETXc.4290T>A (p.Ser1430=)
n.4474T>A
9g.132327309G>ACA375326649SETXc.4289C>T (p.Ser1430Phe)
n.4473C>T
9g.132327309G>CCA375326651SETXc.4289C>G (p.Ser1430Cys)
n.4473C>G
9g.132327309G>TCA375326653SETXc.4289C>A (p.Ser1430Tyr)
n.4473C>A
gnomAD v4
9g.132327310A>CCA375326655SETXc.4288T>G (p.Ser1430Ala)
n.4472T>G
9g.132327310A>GCA375326656SETXc.4288T>C (p.Ser1430Pro)
n.4472T>C
9g.132327310A>TCA375326658SETXc.4288T>A (p.Ser1430Thr)
n.4472T>A
9g.132327311C>ACA467807707SETXc.4287G>T (p.Gly1429=)
n.4471G>T
9g.132327311C=CA1882147286SETXc.4287G= (p.Gly1429=)
n.4471G=
9g.132327311C>GCA467807708SETXc.4287G>C (p.Gly1429=)
n.4471G>C
9g.132327311C>TCA200807146SETXc.4287G>A (p.Gly1429=)
n.4471G>A
dbSNP gnomAD v3 gnomAD v4
9g.132327312C>ACA375326661SETXc.4286G>T (p.Gly1429Val)
n.4470G>T
9g.132327312C>GCA375326663SETXc.4286G>C (p.Gly1429Ala)
n.4470G>C
9g.132327312C>TCA375326662SETXc.4286G>A (p.Gly1429Glu)
n.4470G>A
9g.132327313C>ACA375326665SETXc.4285G>T (p.Gly1429Trp)
n.4469G>T
9g.132327313C>GCA375326667SETXc.4285G>C (p.Gly1429Arg)
n.4469G>C
9g.132327313C>TCA375326668SETXc.4285G>A (p.Gly1429Arg)
n.4469G>A
9g.132327314A=CA1882147287SETXc.4284T= (p.His1428=)
n.4468T=
9g.132327314A>CCA375326669SETXc.4284T>G (p.His1428Gln)
n.4468T>G
9g.132327314A>GCA467807709SETXc.4284T>C (p.His1428=)
n.4468T>C
dbSNP
9g.132327314A>TCA375326671SETXc.4284T>A (p.His1428Gln)
n.4468T>A
9g.132327315T>ACA375326673SETXc.4283A>T (p.His1428Leu)
n.4467A>T
9g.132327315T>CCA5297230SETXc.4283A>G (p.His1428Arg)
n.4467A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327315T>GCA375326675SETXc.4283A>C (p.His1428Pro)
n.4467A>C
9g.132327315T=CA1882147288SETXc.4283A= (p.His1428=)
n.4467A=
9g.132327316G>ACA375326677SETXc.4282C>T (p.His1428Tyr)
n.4466C>T
9g.132327316G>CCA375326678SETXc.4282C>G (p.His1428Asp)
n.4466C>G
9g.132327316G>TCA375326680SETXc.4282C>A (p.His1428Asn)
n.4466C>A
9g.132327317T>ACA375326683SETXc.4281A>T (p.Lys1427Asn)
n.4465A>T
9g.132327317T>CCA467807710SETXc.4281A>G (p.Lys1427=)
n.4465A>G
9g.132327317T>GCA375326681SETXc.4281A>C (p.Lys1427Asn)
n.4465A>C
9g.132327318T>ACA375326684SETXc.4280A>T (p.Lys1427Ile)
n.4464A>T
9g.132327318T>CCA375326686SETXc.4280A>G (p.Lys1427Arg)
n.4464A>G
9g.132327318T>GCA375326685SETXc.4280A>C (p.Lys1427Thr)
n.4464A>C
9g.132327319T>ACA375326687SETXc.4279A>T (p.Lys1427Ter)
n.4463A>T
9g.132327319T>CCA375326689SETXc.4279A>G (p.Lys1427Glu)
n.4463A>G
9g.132327319T>GCA375326690SETXc.4279A>C (p.Lys1427Gln)
n.4463A>C
9g.132327320T>ACA467807713SETXc.4278A>T (p.Ala1426=)
n.4462A>T
9g.132327320T>CCA467807712SETXc.4278A>G (p.Ala1426=)
n.4462A>G
9g.132327320T>GCA467807711SETXc.4278A>C (p.Ala1426=)
n.4462A>C
9g.132327321G>ACA375326692SETXc.4277C>T (p.Ala1426Val)
n.4461C>T
dbSNP
9g.132327321G>CCA375326694SETXc.4277C>G (p.Ala1426Gly)
n.4461C>G
9g.132327321G>TCA375326696SETXc.4277C>A (p.Ala1426Glu)
n.4461C>A
9g.132327322C>ACA375326697SETXc.4276G>T (p.Ala1426Ser)
n.4460G>T
dbSNP
9g.132327322C>GCA375326698SETXc.4276G>C (p.Ala1426Pro)
n.4460G>C
9g.132327322C>TCA375326700SETXc.4276G>A (p.Ala1426Thr)
n.4460G>A
gnomAD v4
9g.132327323T>ACA375326702SETXc.4275A>T (p.Lys1425Asn)
n.4459A>T
gnomAD v4
9g.132327323T>CCA467807714SETXc.4275A>G (p.Lys1425=)
n.4459A>G
dbSNP
9g.132327323T>GCA375326703SETXc.4275A>C (p.Lys1425Asn)
n.4459A>C
9g.132327323T=CA1882147289SETXc.4275A= (p.Lys1425=)
n.4459A=
9g.132327324_132327328delCA2692256380SETXc.4271_4275del (p.Ile1424SerfsTer9)
n.4455_4459del
gnomAD v4
9g.132327324T>ACA375326708SETXc.4274A>T (p.Lys1425Ile)
n.4458A>T
9g.132327324T>CCA375326706SETXc.4274A>G (p.Lys1425Arg)
n.4458A>G
9g.132327324T>GCA375326705SETXc.4274A>C (p.Lys1425Thr)
n.4458A>C
9g.132327325T>ACA375326710SETXc.4273A>T (p.Lys1425Ter)
n.4457A>T
9g.132327325T>CCA233102SETXc.4273A>G (p.Lys1425Glu)
n.4457A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327325T>GCA375326712SETXc.4273A>C (p.Lys1425Gln)
n.4457A>C
9g.132327325T=CA1882147290SETXc.4273A= (p.Lys1425=)
n.4457A=
9g.132327326T>ACA467807715SETXc.4272A>T (p.Ile1424=)
n.4456A>T
9g.132327326T>CCA375326714SETXc.4272A>G (p.Ile1424Met)
n.4456A>G
9g.132327326T>GCA467807716SETXc.4272A>C (p.Ile1424=)
n.4456A>C
gnomAD v4
9g.132327327A>CCA375326715SETXc.4271T>G (p.Ile1424Arg)
n.4455T>G
9g.132327327A>GCA375326716SETXc.4271T>C (p.Ile1424Thr)
n.4455T>C
gnomAD v4
9g.132327327A>TCA375326718SETXc.4271T>A (p.Ile1424Lys)
n.4455T>A
9g.132327328T>ACA375326719SETXc.4270A>T (p.Ile1424Leu)
n.4454A>T
9g.132327328T>CCA5297231SETXc.4270A>G (p.Ile1424Val)
n.4454A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.132327328T>GCA375326721SETXc.4270A>C (p.Ile1424Leu)
n.4454A>C
9g.132327328T=CA1882147291SETXc.4270A= (p.Ile1424=)
n.4454A=
9g.132327329G>ACA467807717SETXc.4269C>T (p.Thr1423=)
n.4453C>T
9g.132327329G>CCA467807718SETXc.4269C>G (p.Thr1423=)
n.4453C>G
9g.132327329G>TCA467807719SETXc.4269C>A (p.Thr1423=)
n.4453C>A
9g.132327330G>ACA375326722SETXc.4268C>T (p.Thr1423Ile)
n.4452C>T
dbSNP gnomAD v3 gnomAD v4
9g.132327330G>CCA375326724SETXc.4268C>G (p.Thr1423Ser)
n.4452C>G
9g.132327330G=CA1882147292SETXc.4268C= (p.Thr1423=)
n.4452C=
9g.132327330G>TCA375326725SETXc.4268C>A (p.Thr1423Asn)
n.4452C>A
9g.132327331T>ACA375326731SETXc.4267A>T (p.Thr1423Ser)
n.4451A>T
9g.132327331T>CCA375326729SETXc.4267A>G (p.Thr1423Ala)
n.4451A>G
dbSNP gnomAD v4
9g.132327331T>GCA375326727SETXc.4267A>C (p.Thr1423Pro)
n.4451A>C
9g.132327331T=CA1882147293SETXc.4267A= (p.Thr1423=)
n.4451A=
9g.132327332T>ACA375326734SETXc.4266A>T (p.Glu1422Asp)
n.4450A>T
9g.132327332T>CCA467807720SETXc.4266A>G (p.Glu1422=)
n.4450A>G
9g.132327332T>GCA375326732SETXc.4266A>C (p.Glu1422Asp)
n.4450A>C
9g.132327333T>ACA375326738SETXc.4265A>T (p.Glu1422Val)
n.4449A>T
9g.132327333T>CCA375326736SETXc.4265A>G (p.Glu1422Gly)
n.4449A>G
9g.132327333T>GCA375326739SETXc.4265A>C (p.Glu1422Ala)
n.4449A>C
gnomAD v4
9g.132327334C>ACA375326741SETXc.4264G>T (p.Glu1422Ter)
n.4448G>T
9g.132327334C>GCA375326742SETXc.4264G>C (p.Glu1422Gln)
n.4448G>C
9g.132327334C>TCA375326744SETXc.4264G>A (p.Glu1422Lys)
n.4448G>A
9g.132327335T>ACA467807721SETXc.4263A>T (p.Pro1421=)
n.4447A>T
9g.132327335T>CCA467807722SETXc.4263A>G (p.Pro1421=)
n.4447A>G
9g.132327335T>GCA5297232SETXc.4263A>C (p.Pro1421=)
n.4447A>C
dbSNP ExAC gnomAD v2
9g.132327335T=CA1882147294SETXc.4263A= (p.Pro1421=)
n.4447A=
9g.132327336G>ACA375326747SETXc.4262C>T (p.Pro1421Leu)
n.4446C>T
9g.132327336G>CCA200807172SETXc.4262C>G (p.Pro1421Arg)
n.4446C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.132327336G=CA1882147295SETXc.4262C= (p.Pro1421=)
n.4446C=
9g.132327336G>TCA375326750SETXc.4262C>A (p.Pro1421Gln)
n.4446C>A
9g.132327337G>ACA375326752SETXc.4261C>T (p.Pro1421Ser)
n.4445C>T
gnomAD v4
9g.132327337G>CCA375326759SETXc.4261C>G (p.Pro1421Ala)
n.4445C>G
dbSNP gnomAD v4
9g.132327337G>TCA375326761SETXc.4261C>A (p.Pro1421Thr)
n.4445C>A
9g.132327338T>ACA375326765SETXc.4260A>T (p.Glu1420Asp)
n.4444A>T
gnomAD v4
9g.132327338T>CCA467807723SETXc.4260A>G (p.Glu1420=)
n.4444A>G
gnomAD v4
9g.132327338T>GCA375326767SETXc.4260A>C (p.Glu1420Asp)
n.4444A>C
9g.132327339T>ACA375326773SETXc.4259A>T (p.Glu1420Val)
n.4443A>T
9g.132327339T>CCA375326768SETXc.4259A>G (p.Glu1420Gly)
n.4443A>G
ClinVar
9g.132327339T>GCA375326770SETXc.4259A>C (p.Glu1420Ala)
n.4443A>C
dbSNP gnomAD v3 gnomAD v4
9g.132327339T=CA1882147296SETXc.4259A= (p.Glu1420=)
n.4443A=
9g.132327340C>ACA375326775SETXc.4258G>T (p.Glu1420Ter)
n.4442G>T
9g.132327340C>GCA375326777SETXc.4258G>C (p.Glu1420Gln)
n.4442G>C
9g.132327340C>TCA375326778SETXc.4258G>A (p.Glu1420Lys)
n.4442G>A
9g.132327341A>CCA467807724SETXc.4257T>G (p.Ser1419=)
n.4441T>G
9g.132327341A>GCA467807725SETXc.4257T>C (p.Ser1419=)
n.4441T>C
9g.132327341A>TCA467807726SETXc.4257T>A (p.Ser1419=)
n.4441T>A
9g.132327342G>ACA375326780SETXc.4256C>T (p.Ser1419Phe)
n.4440C>T
gnomAD v4
9g.132327342G>CCA375326782SETXc.4256C>G (p.Ser1419Cys)
n.4440C>G
9g.132327342G>TCA375326784SETXc.4256C>A (p.Ser1419Tyr)
n.4440C>A
9g.132327343A>CCA375326785SETXc.4255T>G (p.Ser1419Ala)
n.4439T>G
9g.132327343A>GCA375326787SETXc.4255T>C (p.Ser1419Pro)
n.4439T>C
9g.132327343A>TCA375326788SETXc.4255T>A (p.Ser1419Thr)
n.4439T>A

Number of alleles fetched