Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.1416097C>ACA359083760SLC6A3c.1031+1G>T (n.1031+1G>T)
n.481+1G>T
gnomAD v4
5g.1416097C=CA1522637758SLC6A3c.1031+1G= (n.1031+1G=)
n.481+1G=
5g.1416097C>GCA359083761SLC6A3c.1031+1G>C (n.1031+1G>C)
n.481+1G>C
5g.1416097C>TCA149713SLC6A3c.1031+1G>A (n.1031+1G>A)
n.481+1G>A
ClinVar dbSNP gnomAD v4
5g.1416098C>ACA359083762SLC6A3c.1031G>T (p.Arg344Met)
n.481G>T
5g.1416098C=CA1522637759SLC6A3c.1031G= (p.Arg344=)
n.481G=
5g.1416098C>GCA359083764SLC6A3c.1031G>C (p.Arg344Thr)
n.481G>C
gnomAD v4
5g.1416098C>TCA112964309SLC6A3c.1031G>A (p.Arg344Lys)
n.481G>A
dbSNP
5g.1416099T>ACA359083766SLC6A3c.1030A>T (p.Arg344Trp)
n.480A>T
5g.1416099T>CCA359083768SLC6A3c.1030A>G (p.Arg344Gly)
n.480A>G
gnomAD v4
5g.1416099T>GCA443020984SLC6A3c.1030A>C (p.Arg344=)
n.480A>C
5g.1416100G>ACA443020987SLC6A3c.1029C>T (p.Tyr343=)
n.479C>T
5g.1416100G>CCA359083770SLC6A3c.1029C>G (p.Tyr343Ter)
n.479C>G
5g.1416100G>TCA359083771SLC6A3c.1029C>A (p.Tyr343Ter)
n.479C>A
5g.1416101T>ACA359083774SLC6A3c.1028A>T (p.Tyr343Phe)
n.478A>T
5g.1416101T>CCA359083776SLC6A3c.1028A>G (p.Tyr343Cys)
n.478A>G
5g.1416101T>GCA359083777SLC6A3c.1028A>C (p.Tyr343Ser)
n.478A>C
5g.1416102A=CA1522637760SLC6A3c.1027T= (p.Tyr343=)
n.477T=
5g.1416102A>CCA359083780SLC6A3c.1027T>G (p.Tyr343Asp)
n.477T>G
5g.1416102A>GCA359083782SLC6A3c.1027T>C (p.Tyr343His)
n.477T>C
dbSNP gnomAD v4
5g.1416102A>TCA359083784SLC6A3c.1027T>A (p.Tyr343Asn)
n.477T>A
5g.1416103G>ACA443020989SLC6A3c.1026C>T (p.Cys342=)
n.476C>T
5g.1416103G>CCA359083787SLC6A3c.1026C>G (p.Cys342Trp)
n.476C>G
5g.1416103G>TCA359083786SLC6A3c.1026C>A (p.Cys342Ter)
n.476C>A
5g.1416104C>ACA359083790SLC6A3c.1025G>T (p.Cys342Phe)
n.475G>T
5g.1416104C>GCA359083791SLC6A3c.1025G>C (p.Cys342Ser)
n.475G>C
5g.1416104C>TCA359083793SLC6A3c.1025G>A (p.Cys342Tyr)
n.475G>A
5g.1416105A>CCA359083795SLC6A3c.1024T>G (p.Cys342Gly)
n.474T>G
5g.1416105A>GCA359083797SLC6A3c.1024T>C (p.Cys342Arg)
n.474T>C
5g.1416105A>TCA359083799SLC6A3c.1024T>A (p.Cys342Ser)
n.474T>A
5g.1416106G>ACA443020993SLC6A3c.1023C>T (p.Asn341=)
n.473C>T
dbSNP gnomAD v2
5g.1416106G>CCA359083801SLC6A3c.1023C>G (p.Asn341Lys)
n.473C>G
5g.1416106G=CA1522637761SLC6A3c.1023C= (p.Asn341=)
n.473C=
5g.1416106G>TCA359083802SLC6A3c.1023C>A (p.Asn341Lys)
n.473C>A
5g.1416107T>ACA359083804SLC6A3c.1022A>T (p.Asn341Ile)
n.472A>T
5g.1416107T>CCA112964310SLC6A3c.1022A>G (p.Asn341Ser)
n.472A>G
dbSNP gnomAD v4
5g.1416107T>GCA359083806SLC6A3c.1022A>C (p.Asn341Thr)
n.472A>C
5g.1416107T=CA1522637762SLC6A3c.1022A= (p.Asn341=)
n.472A=
5g.1416108T>ACA359083807SLC6A3c.1021A>T (p.Asn341Tyr)
n.471A>T
5g.1416108T>CCA359083809SLC6A3c.1021A>G (p.Asn341Asp)
n.471A>G
5g.1416108T>GCA359083811SLC6A3c.1021A>C (p.Asn341His)
n.471A>C
5g.1416109G>ACA443020999SLC6A3c.1020C>T (p.Asn340=)
n.470C>T
5g.1416109G>CCA359083813SLC6A3c.1020C>G (p.Asn340Lys)
n.470C>G
5g.1416109G>TCA359083815SLC6A3c.1020C>A (p.Asn340Lys)
n.470C>A
5g.1416110T>ACA359083818SLC6A3c.1019A>T (p.Asn340Ile)
n.469A>T
5g.1416110T>CCA359083819SLC6A3c.1019A>G (p.Asn340Ser)
n.469A>G
5g.1416110T>GCA359083821SLC6A3c.1019A>C (p.Asn340Thr)
n.469A>C
5g.1416111T>ACA359083824SLC6A3c.1018A>T (p.Asn340Tyr)
n.468A>T
5g.1416111T>CCA359083825SLC6A3c.1018A>G (p.Asn340Asp)
n.468A>G
5g.1416111T>GCA359083826SLC6A3c.1018A>C (p.Asn340His)
n.468A>C

Number of alleles fetched