Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131851136_131851147delinsTTCTAGAACATA | CA1664253720 | ENPP1 | c.431-6_436delinsTTCTAGAACATA c.109-6_114delinsTTCTAGAACATA c.108+1030_108+1041delinsTTCTAGAACATA n.451-6_456delinsTTCTAGAACATA | |
6 | g.131851138_131851148del | CA1664253721 | ENPP1 | c.431-4_437del c.109-4_115del c.108+1032_108+1042del n.451-4_457del | dbSNP |
6 | g.131851139T>C | CA2680366336 | ENPP1 | c.431-3T>C (n.431-3T>C) c.109-3T>C c.108+1033T>C n.451-3T>C | gnomAD v4 |
6 | g.131851140A= | CA1664253722 | ENPP1 | c.431-2A= (n.431-2A=) c.109-2A= c.108+1034A= n.451-2A= | |
6 | g.131851140A>C | CA365660798 | ENPP1 | c.431-2A>C (n.431-2A>C) c.109-2A>C c.108+1034A>C n.451-2A>C | |
6 | g.131851140A>G | CA4001908 | ENPP1 | c.431-2A>G (n.431-2A>G) c.109-2A>G c.108+1034A>G n.451-2A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851140A>T | CA365660801 | ENPP1 | c.431-2A>T (n.431-2A>T) c.109-2A>T c.108+1034A>T n.451-2A>T | |
6 | g.131851141G>A | CA365660825 | ENPP1 | c.431-1G>A (n.431-1G>A) c.109-1G>A c.108+1035G>A n.451-1G>A | |
6 | g.131851141G>C | CA365660832 | ENPP1 | c.431-1G>C (n.431-1G>C) c.109-1G>C c.108+1035G>C n.451-1G>C | gnomAD v4 |
6 | g.131851141G>T | CA365660853 | ENPP1 | c.431-1G>T (n.431-1G>T) c.109-1G>T c.108+1035G>T n.451-1G>T | |
6 | g.131851142A>C | CA365660858 | ENPP1 | c.431A>C (p.Glu144Ala) c.109A>C c.108+1036A>C n.451A>C | |
6 | g.131851142A>G | CA365660863 | ENPP1 | c.431A>G (p.Glu144Gly) c.109A>G c.108+1036A>G n.451A>G | |
6 | g.131851142A>T | CA365660870 | ENPP1 | c.431A>T (p.Glu144Val) c.109A>T c.108+1036A>T n.451A>T | |
6 | g.131851143A>C | CA365660885 | ENPP1 | c.432A>C (p.Glu144Asp) c.110A>C c.108+1037A>C n.452A>C | |
6 | g.131851143A>G | CA452154531 | ENPP1 | c.432A>G (p.Glu144=) c.110A>G c.108+1037A>G n.452A>G | gnomAD v4 |
6 | g.131851143A>T | CA365660892 | ENPP1 | c.432A>T (p.Glu144Asp) c.110A>T c.108+1037A>T n.452A>T | ClinVar |
6 | g.131851144C>A | CA365660899 | ENPP1 | c.433C>A (p.His145Asn) c.111C>A c.108+1038C>A n.453C>A | |
6 | g.131851144C>G | CA365660905 | ENPP1 | c.433C>G (p.His145Asp) c.111C>G c.108+1038C>G n.453C>G | |
6 | g.131851144C>T | CA365660910 | ENPP1 | c.433C>T (p.His145Tyr) c.111C>T c.108+1038C>T n.453C>T | gnomAD v4 |
6 | g.131851144_131851146delinsCAT | CA1664253723 | ENPP1 | c.433_435delinsCAT (p.His145=) c.111_113delinsCAT c.108+1038_108+1040delinsCAT n.453_455delinsCAT | |
6 | g.131851145A= | CA1664253725 | ENPP1 | c.434A= (p.His145=) c.112A= c.108+1039A= n.454A= | |
6 | g.131851145A>C | CA365660923 | ENPP1 | c.434A>C (p.His145Pro) c.112A>C c.108+1039A>C n.454A>C | |
6 | g.131851145A>G | CA4001909 | ENPP1 | c.434A>G (p.His145Arg) c.112A>G c.108+1039A>G n.454A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131851145A>T | CA365660915 | ENPP1 | c.434A>T (p.His145Leu) c.112A>T c.108+1039A>T n.454A>T | |
6 | g.131851149_131851150del | CA1664253724 | ENPP1 | c.438_439del (p.Ile146MetfsTer10) c.116_117del c.108+1043_108+1044del n.458_459del | dbSNP |
6 | g.131851146T>A | CA365660935 | ENPP1 | c.435T>A (p.His145Gln) c.113T>A c.108+1040T>A n.455T>A | |
6 | g.131851146T>C | CA452154533 | ENPP1 | c.435T>C (p.His145=) c.113T>C c.108+1040T>C n.455T>C | gnomAD v4 |
6 | g.131851146T>G | CA365660934 | ENPP1 | c.435T>G (p.His145Gln) c.113T>G c.108+1040T>G n.455T>G | |
6 | g.131851147A= | CA1664253726 | ENPP1 | c.436A= (p.Ile146=) c.114A= c.108+1041A= n.456A= | |
6 | g.131851147A>C | CA147926200 | ENPP1 | c.436A>C (p.Ile146Leu) c.114A>C c.108+1041A>C n.456A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.131851147A>G | CA365660941 | ENPP1 | c.436A>G (p.Ile146Val) c.114A>G c.108+1041A>G n.456A>G | gnomAD v4 |
6 | g.131851147A>T | CA365660946 | ENPP1 | c.436A>T (p.Ile146Leu) c.114A>T c.108+1041A>T n.456A>T | |
6 | g.131851148T>A | CA365660947 | ENPP1 | c.437T>A (p.Ile146Lys) c.115T>A c.108+1042T>A n.457T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851148T>C | CA365660948 | ENPP1 | c.437T>C (p.Ile146Thr) c.115T>C c.108+1042T>C n.457T>C | |
6 | g.131851148T>G | CA365660949 | ENPP1 | c.437T>G (p.Ile146Arg) c.115T>G c.108+1042T>G n.457T>G | dbSNP |
6 | g.131851148T= | CA1664253727 | ENPP1 | c.437T= (p.Ile146=) c.115T= c.108+1042T= n.457T= | |
6 | g.131851149A= | CA1664253728 | ENPP1 | c.438A= (p.Ile146=) c.116A= c.108+1043A= n.458A= | |
6 | g.131851149A>C | CA452154534 | ENPP1 | c.438A>C (p.Ile146=) c.116A>C c.108+1043A>C n.458A>C | |
6 | g.131851149A>G | CA147926209 | ENPP1 | c.438A>G (p.Ile146Met) c.116A>G c.108+1043A>G n.458A>G | dbSNP gnomAD v4 |
6 | g.131851149A>T | CA452154535 | ENPP1 | c.438A>T (p.Ile146=) c.116A>T c.108+1043A>T n.458A>T | |
6 | g.131851150T>A | CA365660984 | ENPP1 | c.439T>A (p.Trp147Arg) c.117T>A c.108+1044T>A n.459T>A | |
6 | g.131851150T>C | CA147926211 | ENPP1 | c.439T>C (p.Trp147Arg) c.117T>C c.108+1044T>C n.459T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.131851150T>G | CA365660987 | ENPP1 | c.439T>G (p.Trp147Gly) c.117T>G c.108+1044T>G n.459T>G | |
6 | g.131851150T= | CA1664253729 | ENPP1 | c.439T= (p.Trp147=) c.117T= c.108+1044T= n.459T= | |
6 | g.131851151G>A | CA4001910 | ENPP1 | c.440G>A (p.Trp147Ter) c.118G>A c.108+1045G>A n.460G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131851151G>C | CA365661003 | ENPP1 | c.440G>C (p.Trp147Ser) c.118G>C c.108+1045G>C n.460G>C | |
6 | g.131851151G= | CA1664253730 | ENPP1 | c.440G= (p.Trp147=) c.118G= c.108+1045G= n.460G= | |
6 | g.131851151G>T | CA365661009 | ENPP1 | c.440G>T (p.Trp147Leu) c.118G>T c.108+1045G>T n.460G>T | |
6 | g.131851152G>A | CA365661010 | ENPP1 | c.441G>A (p.Trp147Ter) c.119G>A c.108+1046G>A n.461G>A | gnomAD v4 |
6 | g.131851152G>C | CA365661016 | ENPP1 | c.441G>C (p.Trp147Cys) c.119G>C c.108+1046G>C n.461G>C |