| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.860685_860700del | CA2576540610 | CFD | c.145_160del (p.Ser49AlafsTer16) c.7_22del (p.Ser3AlafsTer16) c.124_139del (p.Ser42AlafsTer16) | |
| 19 | g.860686C>A | CA126674 | CFD | c.146C>A (p.Ser49Ter) c.8C>A (p.Ser3Ter) c.125C>A (p.Ser42Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.860686C= | CA2317364693 | CFD | c.146C= (p.Ser49=) c.8C= (p.Ser3=) c.125C= (p.Ser42=) | |
| 19 | g.860686C>G | CA402920655 | CFD | c.146C>G (p.Ser49Trp) c.8C>G (p.Ser3Trp) c.125C>G (p.Ser42Trp) | |
| 19 | g.860686C>T | CA402920654 | CFD | c.146C>T (p.Ser49Leu) c.8C>T (p.Ser3Leu) c.125C>T (p.Ser42Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.860687G>A | CA504881817 | CFD | c.147G>A (p.Ser49=) c.9G>A (p.Ser3=) c.126G>A (p.Ser42=) | gnomAD v4 |
| 19 | g.860687G>C | CA303952415 | CFD | c.147G>C (p.Ser49=) c.9G>C (p.Ser3=) c.126G>C (p.Ser42=) | dbSNP gnomAD v4 |
| 19 | g.860687G= | CA2317364694 | CFD | c.147G= (p.Ser49=) c.9G= (p.Ser3=) c.126G= (p.Ser42=) | |
| 19 | g.860687G>T | CA504881818 | CFD | c.147G>T (p.Ser49=) c.9G>T (p.Ser3=) c.126G>T (p.Ser42=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.860688G>A | CA9026226 | CFD | c.148G>A (p.Val50Met) c.10G>A (p.Val4Met) c.127G>A (p.Val43Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.860688G>C | CA402920656 | CFD | c.148G>C (p.Val50Leu) c.10G>C (p.Val4Leu) c.127G>C (p.Val43Leu) | |
| 19 | g.860688G= | CA2317364695 | CFD | c.148G= (p.Val50=) c.10G= (p.Val4=) c.127G= (p.Val43=) | |
| 19 | g.860688G>T | CA402920657 | CFD | c.148G>T (p.Val50Leu) c.10G>T (p.Val4Leu) c.127G>T (p.Val43Leu) | dbSNP gnomAD v4 |
| 19 | g.860692_860714dup | CA2587806181 | CFD | c.152_174dup (p.Gly59SerfsTer2) c.14_36dup (p.Gly13SerfsTer2) c.131_153dup (p.Gly52SerfsTer2) | gnomAD v4 |
| 19 | g.860689T>A | CA402920658 | CFD | c.149T>A (p.Val50Glu) c.11T>A (p.Val4Glu) c.128T>A (p.Val43Glu) | gnomAD v4 |
| 19 | g.860689T>C | CA402920659 | CFD | c.149T>C (p.Val50Ala) c.11T>C (p.Val4Ala) c.128T>C (p.Val43Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.860689T>G | CA402920660 | CFD | c.149T>G (p.Val50Gly) c.11T>G (p.Val4Gly) c.128T>G (p.Val43Gly) | |
| 19 | g.860689T= | CA2317364696 | CFD | c.149T= (p.Val50=) c.11T= (p.Val4=) c.128T= (p.Val43=) | |
| 19 | g.860690G>A | CA303952417 | CFD | c.150G>A (p.Val50=) c.12G>A (p.Val4=) c.129G>A (p.Val43=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.860690G>C | CA504881819 | CFD | c.150G>C (p.Val50=) c.12G>C (p.Val4=) c.129G>C (p.Val43=) | gnomAD v4 |
| 19 | g.860690G= | CA2317364697 | CFD | c.150G= (p.Val50=) c.12G= (p.Val4=) c.129G= (p.Val43=) | |
| 19 | g.860690G>T | CA504881820 | CFD | c.150G>T (p.Val50=) c.12G>T (p.Val4=) c.129G>T (p.Val43=) | dbSNP gnomAD v4 |
| 19 | g.860691C>A | CA402920661 | CFD | c.151C>A (p.Gln51Lys) c.13C>A (p.Gln5Lys) c.130C>A (p.Gln44Lys) | gnomAD v4 |
| 19 | g.860691C= | CA2317364698 | CFD | c.151C= (p.Gln51=) c.13C= (p.Gln5=) c.130C= (p.Gln44=) | |
| 19 | g.860691C>G | CA402920663 | CFD | c.151C>G (p.Gln51Glu) c.13C>G (p.Gln5Glu) c.130C>G (p.Gln44Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.860691C>T | CA402920662 | CFD | c.151C>T (p.Gln51Ter) c.13C>T (p.Gln5Ter) c.130C>T (p.Gln44Ter) | dbSNP gnomAD v4 |
| 19 | g.860692A>C | CA402920664 | CFD | c.152A>C (p.Gln51Pro) c.14A>C (p.Gln5Pro) c.131A>C (p.Gln44Pro) | |
| 19 | g.860692A>G | CA402920665 | CFD | c.152A>G (p.Gln51Arg) c.14A>G (p.Gln5Arg) c.131A>G (p.Gln44Arg) | gnomAD v4 |
| 19 | g.860692A>T | CA402920666 | CFD | c.152A>T (p.Gln51Leu) c.14A>T (p.Gln5Leu) c.131A>T (p.Gln44Leu) | gnomAD v4 |
| 19 | g.860692_860693delinsAG | CA2317364699 | CFD | c.152_153delinsAG (p.Gln51=) c.14_15delinsAG (p.Gln5=) c.131_132delinsAG (p.Gln44=) | |
| 19 | g.860693del | CA631295265 | CFD | c.153del (p.Gln51HisfsTer2) c.15del (p.Gln5HisfsTer2) c.132del (p.Gln44HisfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.860693G>A | CA504881821 | CFD | c.153G>A (p.Gln51=) c.15G>A (p.Gln5=) c.132G>A (p.Gln44=) | gnomAD v4 |
| 19 | g.860693G>C | CA402920667 | CFD | c.153G>C (p.Gln51His) c.15G>C (p.Gln5His) c.132G>C (p.Gln44His) | gnomAD v4 |
| 19 | g.860693G>T | CA402920668 | CFD | c.153G>T (p.Gln51His) c.15G>T (p.Gln5His) c.132G>T (p.Gln44His) | gnomAD v4 |
| 19 | g.860694C>A | CA402920669 | CFD | c.154C>A (p.Leu52Met) c.16C>A (p.Leu6Met) c.133C>A (p.Leu45Met) | gnomAD v4 |
| 19 | g.860694C= | CA2317364700 | CFD | c.154C= (p.Leu52=) c.16C= (p.Leu6=) c.133C= (p.Leu45=) | |
| 19 | g.860694C>G | CA402920670 | CFD | c.154C>G (p.Leu52Val) c.16C>G (p.Leu6Val) c.133C>G (p.Leu45Val) | gnomAD v4 |
| 19 | g.860694C>T | CA504881822 | CFD | c.154C>T (p.Leu52=) c.16C>T (p.Leu6=) c.133C>T (p.Leu45=) | dbSNP gnomAD v4 |
| 19 | g.860695T>A | CA402920671 | CFD | c.155T>A (p.Leu52Gln) c.17T>A (p.Leu6Gln) c.134T>A (p.Leu45Gln) | gnomAD v4 |
| 19 | g.860695T>C | CA402920672 | CFD | c.155T>C (p.Leu52Pro) c.17T>C (p.Leu6Pro) c.134T>C (p.Leu45Pro) | dbSNP gnomAD v4 |
| 19 | g.860695T>G | CA402920673 | CFD | c.155T>G (p.Leu52Arg) c.17T>G (p.Leu6Arg) c.134T>G (p.Leu45Arg) | |
| 19 | g.860695T= | CA2317364701 | CFD | c.155T= (p.Leu52=) c.17T= (p.Leu6=) c.134T= (p.Leu45=) | |
| 19 | g.860696G>A | CA9026227 | CFD | c.156G>A (p.Leu52=) c.18G>A (p.Leu6=) c.135G>A (p.Leu45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.860696G>C | CA504881823 | CFD | c.156G>C (p.Leu52=) c.18G>C (p.Leu6=) c.135G>C (p.Leu45=) | gnomAD v4 |
| 19 | g.860696G= | CA2317364702 | CFD | c.156G= (p.Leu52=) c.18G= (p.Leu6=) c.135G= (p.Leu45=) | |
| 19 | g.860696G>T | CA504881824 | CFD | c.156G>T (p.Leu52=) c.18G>T (p.Leu6=) c.135G>T (p.Leu45=) | gnomAD v4 |
| 19 | g.860697A>C | CA402920676 | CFD | c.157A>C (p.Asn53His) c.19A>C (p.Asn7His) c.136A>C (p.Asn46His) | |
| 19 | g.860697A>G | CA402920674 | CFD | c.157A>G (p.Asn53Asp) c.19A>G (p.Asn7Asp) c.136A>G (p.Asn46Asp) | gnomAD v4 |
| 19 | g.860697A>T | CA402920675 | CFD | c.157A>T (p.Asn53Tyr) c.19A>T (p.Asn7Tyr) c.136A>T (p.Asn46Tyr) | |
| 19 | g.860698A= | CA2317364703 | CFD | c.158A= (p.Asn53=) c.20A= (p.Asn7=) c.137A= (p.Asn46=) |