Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6021960C>A | CA228427 | VWF | c.3614G>T (p.Arg1205Leu) n.421-28026G>T | ClinVar dbSNP |
12 | g.6021960C= | CA2013874091 | VWF | c.3614G= (p.Arg1205=) n.421-28026G= | |
12 | g.6021960C>G | CA383510653 | VWF | c.3614G>C (p.Arg1205Pro) n.421-28026G>C | |
12 | g.6021960C>T | CA114160 | VWF | c.3614G>A (p.Arg1205His) n.421-28026G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6021961G>A | CA6402724 | VWF | c.3613C>T (p.Arg1205Cys) n.421-28027C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021961G>C | CA383510671 | VWF | c.3613C>G (p.Arg1205Gly) n.421-28027C>G | |
12 | g.6021961G= | CA2013874092 | VWF | c.3613C= (p.Arg1205=) n.421-28027C= | |
12 | g.6021961G>T | CA383510675 | VWF | c.3613C>A (p.Arg1205Ser) n.421-28027C>A | gnomAD v4 |
12 | g.6021962C>A | CA478101251 | VWF | c.3612G>T (p.Arg1204=) n.421-28028G>T | |
12 | g.6021962C= | CA2013874093 | VWF | c.3612G= (p.Arg1204=) n.421-28028G= | |
12 | g.6021962C>G | CA478101252 | VWF | c.3612G>C (p.Arg1204=) n.421-28028G>C | gnomAD v4 |
12 | g.6021962C>T | CA478101253 | VWF | c.3612G>A (p.Arg1204=) n.421-28028G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6021963C>A | CA383510676 | VWF | c.3611G>T (p.Arg1204Leu) n.421-28029G>T | dbSNP COSMIC |
12 | g.6021963C= | CA2013874094 | VWF | c.3611G= (p.Arg1204=) n.421-28029G= | |
12 | g.6021963C>G | CA383510678 | VWF | c.3611G>C (p.Arg1204Pro) n.421-28029G>C | |
12 | g.6021963C>T | CA232297980 | VWF | c.3611G>A (p.Arg1204Gln) n.421-28029G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021964G>A | CA6402725 | VWF | c.3610C>T (p.Arg1204Trp) n.421-28030C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6021964G>C | CA383510690 | VWF | c.3610C>G (p.Arg1204Gly) n.421-28030C>G | |
12 | g.6021964G= | CA2013874095 | VWF | c.3610C= (p.Arg1204=) n.421-28030C= | |
12 | g.6021964G>T | CA478101254 | VWF | c.3610C>A (p.Arg1204=) n.421-28030C>A | |
12 | g.6021965G>A | CA478101255 | VWF | c.3609C>T (p.Gly1203=) n.421-28031C>T | COSMIC |
12 | g.6021965G>C | CA478101256 | VWF | c.3609C>G (p.Gly1203=) n.421-28031C>G | |
12 | g.6021965G>T | CA478101257 | VWF | c.3609C>A (p.Gly1203=) n.421-28031C>A | |
12 | g.6021966C>A | CA383510697 | VWF | c.3608G>T (p.Gly1203Val) n.421-28032G>T | |
12 | g.6021966C= | CA2013874096 | VWF | c.3608G= (p.Gly1203=) n.421-28032G= | |
12 | g.6021966C>G | CA383510700 | VWF | c.3608G>C (p.Gly1203Ala) n.421-28032G>C | |
12 | g.6021966C>T | CA6402726 | VWF | c.3608G>A (p.Gly1203Asp) n.421-28032G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021967C>A | CA383510708 | VWF | c.3607G>T (p.Gly1203Cys) n.421-28033G>T | |
12 | g.6021967C>G | CA383510710 | VWF | c.3607G>C (p.Gly1203Arg) n.421-28033G>C | |
12 | g.6021967C>T | CA383510716 | VWF | c.3607G>A (p.Gly1203Ser) n.421-28033G>A | |
12 | g.6021968A>C | CA478101258 | VWF | c.3606T>G (p.Ala1202=) n.421-28034T>G | |
12 | g.6021968A>G | CA478101259 | VWF | c.3606T>C (p.Ala1202=) n.421-28034T>C | |
12 | g.6021968A>T | CA478101260 | VWF | c.3606T>A (p.Ala1202=) n.421-28034T>A | |
12 | g.6021969G>A | CA6402727 | VWF | c.3605C>T (p.Ala1202Val) n.421-28035C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6021969G>C | CA383510719 | VWF | c.3605C>G (p.Ala1202Gly) n.421-28035C>G | |
12 | g.6021969G= | CA2013874097 | VWF | c.3605C= (p.Ala1202=) n.421-28035C= | |
12 | g.6021969G>T | CA383510718 | VWF | c.3605C>A (p.Ala1202Asp) n.421-28035C>A | |
12 | g.6021970C>A | CA383510720 | VWF | c.3604G>T (p.Ala1202Ser) n.421-28036G>T | gnomAD v4 |
12 | g.6021970C>G | CA383510722 | VWF | c.3604G>C (p.Ala1202Pro) n.421-28036G>C | |
12 | g.6021970C>T | CA383510725 | VWF | c.3604G>A (p.Ala1202Thr) n.421-28036G>A | |
12 | g.6021970_6021971insTTAGAGA | CA2545606998 | VWF | c.3603_3604insTCTCTAA (p.Ala1202SerfsTer19) n.421-28037_421-28036insTCTCTAA | |
12 | g.6021971C>A | CA478101263 | VWF | c.3603G>T (p.Val1201=) n.421-28037G>T | |
12 | g.6021971C>G | CA478101262 | VWF | c.3603G>C (p.Val1201=) n.421-28037G>C | |
12 | g.6021971C>T | CA478101261 | VWF | c.3603G>A (p.Val1201=) n.421-28037G>A | |
12 | g.6021972A= | CA2013874098 | VWF | c.3602T= (p.Val1201=) n.421-28038T= | |
12 | g.6021972A>C | CA383510728 | VWF | c.3602T>G (p.Val1201Gly) n.421-28038T>G | |
12 | g.6021972A>G | CA383510731 | VWF | c.3602T>C (p.Val1201Ala) n.421-28038T>C | dbSNP |
12 | g.6021972A>T | CA383510734 | VWF | c.3602T>A (p.Val1201Glu) n.421-28038T>A | |
12 | g.6021973C>A | CA383510738 | VWF | c.3601G>T (p.Val1201Leu) n.421-28039G>T | |
12 | g.6021973C>G | CA383510739 | VWF | c.3601G>C (p.Val1201Leu) n.421-28039G>C |