| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131851069C>A | CA2680366313 | ENPP1 | c.431-73C>A (n.431-73C>A) c.109-73C>A c.108+963C>A n.451-73C>A | gnomAD v4 |
| 6 | g.131851069C>T | CA2578742751 | ENPP1 | c.431-73C>T (n.431-73C>T) c.109-73C>T c.108+963C>T n.451-73C>T | |
| 6 | g.131851071G>A | CA147926129 | ENPP1 | c.431-71G>A (n.431-71G>A) c.109-71G>A c.108+965G>A n.451-71G>A | dbSNP gnomAD v4 |
| 6 | g.131851071G= | CA1664253691 | ENPP1 | c.431-71G= (n.431-71G=) c.109-71G= c.108+965G= n.451-71G= | |
| 6 | g.131851072C>A | CA2578742752 | ENPP1 | c.431-70C>A (n.431-70C>A) c.109-70C>A c.108+966C>A n.451-70C>A | gnomAD v4 |
| 6 | g.131851072C>T | CA2680366314 | ENPP1 | c.431-70C>T (n.431-70C>T) c.109-70C>T c.108+966C>T n.451-70C>T | gnomAD v4 |
| 6 | g.131851073A= | CA1664253692 | ENPP1 | c.431-69A= (n.431-69A=) c.109-69A= c.108+967A= n.451-69A= | |
| 6 | g.131851073A>C | CA1664253693 | ENPP1 | c.431-69A>C (n.431-69A>C) c.109-69A>C c.108+967A>C n.451-69A>C | dbSNP |
| 6 | g.131851073A>T | CA2680366315 | ENPP1 | c.431-69A>T (n.431-69A>T) c.109-69A>T c.108+967A>T n.451-69A>T | gnomAD v4 |
| 6 | g.131851074A= | CA1664253694 | ENPP1 | c.431-68A= (n.431-68A=) c.109-68A= c.108+968A= n.451-68A= | |
| 6 | g.131851074A>C | CA1664253695 | ENPP1 | c.431-68A>C (n.431-68A>C) c.109-68A>C c.108+968A>C n.451-68A>C | dbSNP |
| 6 | g.131851074A>G | CA1664253696 | ENPP1 | c.431-68A>G (n.431-68A>G) c.109-68A>G c.108+968A>G n.451-68A>G | dbSNP gnomAD v4 |
| 6 | g.131851077C>A | CA2680366316 | ENPP1 | c.431-65C>A (n.431-65C>A) c.109-65C>A c.108+971C>A n.451-65C>A | gnomAD v4 |
| 6 | g.131851077C>T | CA2680366317 | ENPP1 | c.431-65C>T (n.431-65C>T) c.109-65C>T c.108+971C>T n.451-65C>T | gnomAD v4 |
| 6 | g.131851078T>C | CA2680366318 | ENPP1 | c.431-64T>C (n.431-64T>C) c.109-64T>C c.108+972T>C n.451-64T>C | gnomAD v4 |
| 6 | g.131851079G>A | CA2680366319 | ENPP1 | c.431-63G>A (n.431-63G>A) c.109-63G>A c.108+973G>A n.451-63G>A | gnomAD v4 |
| 6 | g.131851079G>C | CA2578742753 | ENPP1 | c.431-63G>C (n.431-63G>C) c.109-63G>C c.108+973G>C n.451-63G>C | gnomAD v4 |
| 6 | g.131851081G>A | CA2680366320 | ENPP1 | c.431-61G>A (n.431-61G>A) c.109-61G>A c.108+975G>A n.451-61G>A | gnomAD v4 |
| 6 | g.131851084C>A | CA2578742754 | ENPP1 | c.431-58C>A (n.431-58C>A) c.109-58C>A c.108+978C>A n.451-58C>A | gnomAD v4 |
| 6 | g.131851084C= | CA1664253697 | ENPP1 | c.431-58C= (n.431-58C=) c.109-58C= c.108+978C= n.451-58C= | |
| 6 | g.131851084C>G | CA819061547 | ENPP1 | c.431-58C>G (n.431-58C>G) c.109-58C>G c.108+978C>G n.451-58C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851084C>T | CA819061549 | ENPP1 | c.431-58C>T (n.431-58C>T) c.109-58C>T c.108+978C>T n.451-58C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851085A= | CA1664253698 | ENPP1 | c.431-57A= (n.431-57A=) c.109-57A= c.108+979A= n.451-57A= | |
| 6 | g.131851085A>G | CA1664253699 | ENPP1 | c.431-57A>G (n.431-57A>G) c.109-57A>G c.108+979A>G n.451-57A>G | dbSNP gnomAD v4 |
| 6 | g.131851086C= | CA1664253700 | ENPP1 | c.431-56C= (n.431-56C=) c.109-56C= c.108+980C= n.451-56C= | |
| 6 | g.131851086C>T | CA1094554998 | ENPP1 | c.431-56C>T (n.431-56C>T) c.109-56C>T c.108+980C>T n.451-56C>T | dbSNP |
| 6 | g.131851089del | CA2680366321 | ENPP1 | c.431-53del (n.431-53del) c.109-53del c.108+983del n.451-53del | gnomAD v4 |
| 6 | g.131851088T>C | CA2680366322 | ENPP1 | c.431-54T>C (n.431-54T>C) c.109-54T>C c.108+982T>C n.451-54T>C | gnomAD v4 |
| 6 | g.131851089T>C | CA2713037970 | ENPP1 | c.431-53T>C (n.431-53T>C) c.109-53T>C c.108+983T>C n.451-53T>C | dbSNP |
| 6 | g.131851090G>T | CA2680366323 | ENPP1 | c.431-52G>T (n.431-52G>T) c.109-52G>T c.108+984G>T n.451-52G>T | gnomAD v4 |
| 6 | g.131851091G>A | CA2680366324 | ENPP1 | c.431-51G>A (n.431-51G>A) c.109-51G>A c.108+985G>A n.451-51G>A | gnomAD v4 |
| 6 | g.131851092A= | CA1664253701 | ENPP1 | c.431-50A= (n.431-50A=) c.109-50A= c.108+986A= n.451-50A= | |
| 6 | g.131851092A>C | CA570097309 | ENPP1 | c.431-50A>C (n.431-50A>C) c.109-50A>C c.108+986A>C n.451-50A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851093C>A | CA2578742755 | ENPP1 | c.431-49C>A (n.431-49C>A) c.109-49C>A c.108+987C>A n.451-49C>A | gnomAD v4 |
| 6 | g.131851093C= | CA1664253702 | ENPP1 | c.431-49C= (n.431-49C=) c.109-49C= c.108+987C= n.451-49C= | |
| 6 | g.131851093C>T | CA4001901 | ENPP1 | c.431-49C>T (n.431-49C>T) c.109-49C>T c.108+987C>T n.451-49C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851094A= | CA1664253703 | ENPP1 | c.431-48A= (n.431-48A=) c.109-48A= c.108+988A= n.451-48A= | |
| 6 | g.131851094A>G | CA4001903 | ENPP1 | c.431-48A>G (n.431-48A>G) c.109-48A>G c.108+988A>G n.451-48A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851094A>T | CA4001902 | ENPP1 | c.431-48A>T (n.431-48A>T) c.109-48A>T c.108+988A>T n.451-48A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131851095T>A | CA819061554 | ENPP1 | c.431-47T>A (n.431-47T>A) c.109-47T>A c.108+989T>A n.451-47T>A | dbSNP |
| 6 | g.131851095T>C | CA570097310 | ENPP1 | c.431-47T>C (n.431-47T>C) c.109-47T>C c.108+989T>C n.451-47T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851095T= | CA1664253704 | ENPP1 | c.431-47T= (n.431-47T=) c.109-47T= c.108+989T= n.451-47T= | |
| 6 | g.131851096G>C | CA2680366325 | ENPP1 | c.431-46G>C (n.431-46G>C) c.109-46G>C c.108+990G>C n.451-46G>C | gnomAD v4 |
| 6 | g.131851096G= | CA1664253705 | ENPP1 | c.431-46G= (n.431-46G=) c.109-46G= c.108+990G= n.451-46G= | |
| 6 | g.131851098dup | CA570097311 | ENPP1 | c.431-44dup (n.431-44dup) c.109-44dup c.108+992dup n.451-44dup | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131851099G>T | CA2680366326 | ENPP1 | c.431-43G>T (n.431-43G>T) c.109-43G>T c.108+993G>T n.451-43G>T | gnomAD v4 |
| 6 | g.131851100A= | CA1664253706 | ENPP1 | c.431-42A= (n.431-42A=) c.109-42A= c.108+994A= n.451-42A= | |
| 6 | g.131851100A>C | CA4001904 | ENPP1 | c.431-42A>C (n.431-42A>C) c.109-42A>C c.108+994A>C n.451-42A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131851100A>T | CA2680366327 | ENPP1 | c.431-42A>T (n.431-42A>T) c.109-42A>T c.108+994A>T n.451-42A>T | gnomAD v4 |
| 6 | g.131851103T>A | CA147926162 | ENPP1 | c.431-39T>A (n.431-39T>A) c.109-39T>A c.108+997T>A n.451-39T>A | dbSNP |
| 6 | g.131851103T= | CA1664253707 | ENPP1 | c.431-39T= (n.431-39T=) c.109-39T= c.108+997T= n.451-39T= | |
| 6 | g.131851105G>A | CA2680366328 | ENPP1 | c.431-37G>A (n.431-37G>A) c.109-37G>A c.108+999G>A n.451-37G>A | gnomAD v4 |
| 6 | g.131851106A>T | CA2578742756 | ENPP1 | c.431-36A>T (n.431-36A>T) c.109-36A>T c.108+1000A>T n.451-36A>T | |
| 6 | g.131851107G>A | CA2680366329 | ENPP1 | c.431-35G>A (n.431-35G>A) c.109-35G>A c.108+1001G>A n.451-35G>A | gnomAD v4 |
| 6 | g.131851112_131851120del | CA2680366330 | ENPP1 | c.431-30_431-22del (n.431-30_431-22del) c.109-30_109-22del c.108+1006_108+1014del n.451-30_451-22del | gnomAD v4 |
| 6 | g.131851110A= | CA1664253708 | ENPP1 | c.431-32A= (n.431-32A=) c.109-32A= c.108+1004A= n.451-32A= | |
| 6 | g.131851110A>G | CA570097312 | ENPP1 | c.431-32A>G (n.431-32A>G) c.109-32A>G c.108+1004A>G n.451-32A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131851111_131851112del | CA2680366331 | ENPP1 | c.431-31_431-30del (n.431-31_431-30del) c.109-31_109-30del c.108+1005_108+1006del n.451-31_451-30del | gnomAD v4 |
| 6 | g.131851112A>G | CA2680366332 | ENPP1 | c.431-30A>G (n.431-30A>G) c.109-30A>G c.108+1006A>G n.451-30A>G | gnomAD v4 |
| 6 | g.131851113A>G | CA2578742757 | ENPP1 | c.431-29A>G (n.431-29A>G) c.109-29A>G c.108+1007A>G n.451-29A>G | |
| 6 | g.131851115A= | CA1664253709 | ENPP1 | c.431-27A= (n.431-27A=) c.109-27A= c.108+1009A= n.451-27A= | |
| 6 | g.131851115A>G | CA1664253710 | ENPP1 | c.431-27A>G (n.431-27A>G) c.109-27A>G c.108+1009A>G n.451-27A>G | dbSNP |
| 6 | g.131851116C>T | CA2680366333 | ENPP1 | c.431-26C>T (n.431-26C>T) c.109-26C>T c.108+1010C>T n.451-26C>T | gnomAD v4 |
| 6 | g.131851118C>A | CA4001905 | ENPP1 | c.431-24C>A (n.431-24C>A) c.109-24C>A c.108+1012C>A n.451-24C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131851118C= | CA1664253711 | ENPP1 | c.431-24C= (n.431-24C=) c.109-24C= c.108+1012C= n.451-24C= | |
| 6 | g.131851119A= | CA1664253712 | ENPP1 | c.431-23A= (n.431-23A=) c.109-23A= c.108+1013A= n.451-23A= | |
| 6 | g.131851119A>C | CA1094555005 | ENPP1 | c.431-23A>C (n.431-23A>C) c.109-23A>C c.108+1013A>C n.451-23A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851119A>G | CA4001906 | ENPP1 | c.431-23A>G (n.431-23A>G) c.109-23A>G c.108+1013A>G n.451-23A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851120T>C | CA147926177 | ENPP1 | c.431-22T>C (n.431-22T>C) c.109-22T>C c.108+1014T>C n.451-22T>C | dbSNP gnomAD v4 |
| 6 | g.131851120T>G | CA1664253714 | ENPP1 | c.431-22T>G (n.431-22T>G) c.109-22T>G c.108+1014T>G n.451-22T>G | dbSNP |
| 6 | g.131851120T= | CA1664253713 | ENPP1 | c.431-22T= (n.431-22T=) c.109-22T= c.108+1014T= n.451-22T= | |
| 6 | g.131851124G>C | CA570097313 | ENPP1 | c.431-18G>C (n.431-18G>C) c.109-18G>C c.108+1018G>C n.451-18G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851124G= | CA1664253715 | ENPP1 | c.431-18G= (n.431-18G=) c.109-18G= c.108+1018G= n.451-18G= | |
| 6 | g.131851126T>C | CA4001907 | ENPP1 | c.431-16T>C (n.431-16T>C) c.109-16T>C c.108+1020T>C n.451-16T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851126T= | CA1664253716 | ENPP1 | c.431-16T= (n.431-16T=) c.109-16T= c.108+1020T= n.451-16T= | |
| 6 | g.131851129T>A | CA1664253718 | ENPP1 | c.431-13T>A (n.431-13T>A) c.109-13T>A c.108+1023T>A n.451-13T>A | dbSNP |
| 6 | g.131851129T= | CA1664253717 | ENPP1 | c.431-13T= (n.431-13T=) c.109-13T= c.108+1023T= n.451-13T= | |
| 6 | g.131851133T>C | CA2578742758 | ENPP1 | c.431-9T>C (n.431-9T>C) c.109-9T>C c.108+1027T>C n.451-9T>C | |
| 6 | g.131851134G>A | CA2680366334 | ENPP1 | c.431-8G>A (n.431-8G>A) c.109-8G>A c.108+1028G>A n.451-8G>A | gnomAD v4 |
| 6 | g.131851134G>C | CA1094555011 | ENPP1 | c.431-8G>C (n.431-8G>C) c.109-8G>C c.108+1028G>C n.451-8G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851134G= | CA1664253719 | ENPP1 | c.431-8G= (n.431-8G=) c.109-8G= c.108+1028G= n.451-8G= | |
| 6 | g.131851134G>T | CA2578742759 | ENPP1 | c.431-8G>T (n.431-8G>T) c.109-8G>T c.108+1028G>T n.451-8G>T | |
| 6 | g.131851137del | CA2680366335 | ENPP1 | c.431-5del (n.431-5del) c.109-5del c.108+1031del n.451-5del | gnomAD v4 |
| 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 | |
| 6 | g.131851152G>T | CA365661011 | ENPP1 | c.441G>T (p.Trp147Cys) c.119G>T c.108+1046G>T n.461G>T | |
| 6 | g.131851153A>C | CA365661025 | ENPP1 | c.442A>C (p.Thr148Pro) c.120A>C c.108+1047A>C n.462A>C | gnomAD v4 |
| 6 | g.131851153A>G | CA365661034 | ENPP1 | c.442A>G (p.Thr148Ala) c.120A>G c.108+1047A>G n.462A>G | |
| 6 | g.131851153A>T | CA365661053 | ENPP1 | c.442A>T (p.Thr148Ser) c.120A>T c.108+1047A>T n.462A>T | |
| 6 | g.131851154C>A | CA365661062 | ENPP1 | c.443C>A (p.Thr148Asn) c.121C>A c.108+1048C>A n.463C>A | |
| 6 | g.131851154C= | CA1664253731 | ENPP1 | c.443C= (p.Thr148=) c.121C= c.108+1048C= n.463C= | |
| 6 | g.131851154C>G | CA365661063 | ENPP1 | c.443C>G (p.Thr148Ser) c.121C>G c.108+1048C>G n.463C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851154C>T | CA365661064 | ENPP1 | c.443C>T (p.Thr148Ile) c.121C>T c.108+1048C>T n.463C>T | |
| 6 | g.131851155T>A | CA452154536 | ENPP1 | c.444T>A (p.Thr148=) c.122T>A c.108+1049T>A n.464T>A | |
| 6 | g.131851155T>C | CA452154537 | ENPP1 | c.444T>C (p.Thr148=) c.122T>C c.108+1049T>C n.464T>C | |
| 6 | g.131851155T>G | CA452154538 | ENPP1 | c.444T>G (p.Thr148=) c.122T>G c.108+1049T>G n.464T>G | |
| 6 | g.131851156T>A | CA365661065 | ENPP1 | c.445T>A (p.Cys149Ser) c.123T>A c.108+1050T>A n.465T>A | |
| 6 | g.131851156T>C | CA365661070 | ENPP1 | c.445T>C (p.Cys149Arg) c.123T>C c.108+1050T>C n.465T>C | |
| 6 | g.131851156T>G | CA365661082 | ENPP1 | c.445T>G (p.Cys149Gly) c.123T>G c.108+1050T>G n.465T>G | |
| 6 | g.131851157G>A | CA365661089 | ENPP1 | c.446G>A (p.Cys149Tyr) c.124G>A c.108+1051G>A n.466G>A | |
| 6 | g.131851157G>C | CA145332 | ENPP1 | c.446G>C (p.Cys149Ser) c.124G>C c.108+1051G>C n.466G>C | ClinVar dbSNP |
| 6 | g.131851157G= | CA1664253732 | ENPP1 | c.446G= (p.Cys149=) c.124G= c.108+1051G= n.466G= | |
| 6 | g.131851157G>T | CA365661092 | ENPP1 | c.446G>T (p.Cys149Phe) c.124G>T c.108+1051G>T n.466G>T | |
| 6 | g.131851158C>A | CA365661093 | ENPP1 | c.447C>A (p.Cys149Ter) c.125C>A c.108+1052C>A n.467C>A | |
| 6 | g.131851158C>G | CA365661096 | ENPP1 | c.447C>G (p.Cys149Trp) c.125C>G c.108+1052C>G n.467C>G | |
| 6 | g.131851158C>T | CA452154539 | ENPP1 | c.447C>T (p.Cys149=) c.125C>T c.108+1052C>T n.467C>T | gnomAD v4 |
| 6 | g.131851159A= | CA1664253733 | ENPP1 | c.448A= (p.Asn150=) c.126A= c.108+1053A= n.468A= | |
| 6 | g.131851159A>C | CA147926229 | ENPP1 | c.448A>C (p.Asn150His) c.126A>C c.108+1053A>C n.468A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131851159A>G | CA365661109 | ENPP1 | c.448A>G (p.Asn150Asp) c.126A>G c.108+1053A>G n.468A>G | COSMIC |
| 6 | g.131851159A>T | CA365661113 | ENPP1 | c.448A>T (p.Asn150Tyr) c.126A>T c.108+1053A>T n.468A>T | |
| 6 | g.131851160A= | CA1664253734 | ENPP1 | c.449A= (p.Asn150=) c.127A= c.108+1054A= n.469A= | |
| 6 | g.131851160A>C | CA365661114 | ENPP1 | c.449A>C (p.Asn150Thr) c.127A>C c.108+1054A>C n.469A>C | |
| 6 | g.131851160A>G | CA4001911 | ENPP1 | c.449A>G (p.Asn150Ser) c.127A>G c.108+1054A>G n.469A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131851160A>T | CA365661120 | ENPP1 | c.449A>T (p.Asn150Ile) c.127A>T c.108+1054A>T n.469A>T | |
| 6 | g.131851161C>A | CA365661121 | ENPP1 | c.450C>A (p.Asn150Lys) c.128C>A c.108+1055C>A n.470C>A | dbSNP |
| 6 | g.131851161C>G | CA365661122 | ENPP1 | c.450C>G (p.Asn150Lys) c.128C>G c.108+1055C>G n.470C>G | gnomAD v4 |
| 6 | g.131851161C>T | CA452154540 | ENPP1 | c.450C>T (p.Asn150=) c.128C>T c.108+1055C>T n.470C>T | |
| 6 | g.131851162A>C | CA365661124 | ENPP1 | c.451A>C (p.Lys151Gln) c.129A>C c.108+1056A>C n.471A>C | |
| 6 | g.131851162A>G | CA365661127 | ENPP1 | c.451A>G (p.Lys151Glu) c.129A>G c.108+1056A>G n.471A>G | |
| 6 | g.131851162A>T | CA365661131 | ENPP1 | c.451A>T (p.Lys151Ter) c.129A>T c.108+1056A>T n.471A>T | |
| 6 | g.131851163A>C | CA365661137 | ENPP1 | c.452A>C (p.Lys151Thr) c.130A>C c.108+1057A>C n.472A>C | |
| 6 | g.131851163A>G | CA365661139 | ENPP1 | c.452A>G (p.Lys151Arg) c.130A>G c.108+1057A>G n.472A>G | |
| 6 | g.131851163A>T | CA365661140 | ENPP1 | c.452A>T (p.Lys151Ile) c.130A>T c.108+1057A>T n.472A>T | |
| 6 | g.131851164A>C | CA365661158 | ENPP1 | c.453A>C (p.Lys151Asn) c.131A>C c.108+1058A>C n.473A>C | |
| 6 | g.131851164A>G | CA452154541 | ENPP1 | c.453A>G (p.Lys151=) c.131A>G c.108+1058A>G n.473A>G | |
| 6 | g.131851164A>T | CA365661145 | ENPP1 | c.453A>T (p.Lys151Asn) c.131A>T c.108+1058A>T n.473A>T | |
| 6 | g.131851165T>A | CA365661168 | ENPP1 | c.454T>A (p.Phe152Ile) c.132T>A c.108+1059T>A n.474T>A | |
| 6 | g.131851165T>C | CA365661183 | ENPP1 | c.454T>C (p.Phe152Leu) c.132T>C c.108+1059T>C n.474T>C | |
| 6 | g.131851165T>G | CA365661192 | ENPP1 | c.454T>G (p.Phe152Val) c.132T>G c.108+1059T>G n.474T>G | ClinVar gnomAD v4 |
| 6 | g.131851166T>A | CA365661197 | ENPP1 | c.455T>A (p.Phe152Tyr) c.133T>A c.108+1060T>A n.475T>A | |
| 6 | g.131851166T>C | CA365661209 | ENPP1 | c.455T>C (p.Phe152Ser) c.133T>C c.108+1060T>C n.475T>C | gnomAD v4 |
| 6 | g.131851166T>G | CA365661211 | ENPP1 | c.455T>G (p.Phe152Cys) c.133T>G c.108+1060T>G n.475T>G | |
| 6 | g.131851167C>A | CA365661213 | ENPP1 | c.456C>A (p.Phe152Leu) c.134C>A c.108+1061C>A n.476C>A | |
| 6 | g.131851167C>G | CA365661215 | ENPP1 | c.456C>G (p.Phe152Leu) c.134C>G c.108+1061C>G n.476C>G | |
| 6 | g.131851167C>T | CA452154542 | ENPP1 | c.456C>T (p.Phe152=) c.134C>T c.108+1061C>T n.476C>T | |
| 6 | g.131851168A>C | CA452154543 | ENPP1 | c.457A>C (p.Arg153=) c.135A>C c.108+1062A>C n.477A>C | |
| 6 | g.131851168A>G | CA365661220 | ENPP1 | c.457A>G (p.Arg153Gly) c.135A>G c.108+1062A>G n.477A>G | |
| 6 | g.131851168A>T | CA365661229 | ENPP1 | c.457A>T (p.Arg153Trp) c.135A>T c.108+1062A>T n.477A>T | |
| 6 | g.131851169G>A | CA365661230 | ENPP1 | c.458G>A (p.Arg153Lys) c.136G>A c.108+1063G>A n.478G>A | |
| 6 | g.131851169G>C | CA365661231 | ENPP1 | c.458G>C (p.Arg153Thr) c.136G>C c.108+1063G>C n.478G>C | |
| 6 | g.131851169G>T | CA365661234 | ENPP1 | c.458G>T (p.Arg153Met) c.136G>T c.108+1063G>T n.478G>T |