Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.48981532_48981554del | CA605233429 | WNT1 | c.1005_1027del (p.Thr336AlafsTer?) c.972_994del (p.Thr325AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.48981553del | CA185909 | WNT1 | c.1026del (p.Glu343SerfsTer?) c.993del (p.Glu332SerfsTer?) | ClinVar dbSNP gnomAD v4 |
12 | g.48981553C>A | CA479704478 | WNT1 | c.1026C>A (p.Thr342=) c.993C>A (p.Thr331=) | gnomAD v4 |
12 | g.48981553C>G | CA479704480 | WNT1 | c.1026C>G (p.Thr342=) c.993C>G (p.Thr331=) | |
12 | g.48981553C>T | CA479704479 | WNT1 | c.1026C>T (p.Thr342=) c.993C>T (p.Thr331=) | |
12 | g.48981554G>A | CA384638502 | WNT1 | c.1027G>A (p.Glu343Lys) c.994G>A (p.Glu332Lys) | gnomAD v4 |
12 | g.48981554G>C | CA6544499 | WNT1 | c.1027G>C (p.Glu343Gln) c.994G>C (p.Glu332Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48981554G= | CA2034902088 | WNT1 | c.1027G= (p.Glu343=) c.994G= (p.Glu332=) | |
12 | g.48981554G>T | CA384638511 | WNT1 | c.1027G>T (p.Glu343Ter) c.994G>T (p.Glu332Ter) | gnomAD v4 |
12 | g.48981555A>C | CA384638524 | WNT1 | c.1028A>C (p.Glu343Ala) c.995A>C (p.Glu332Ala) | |
12 | g.48981555A>G | CA384638538 | WNT1 | c.1028A>G (p.Glu343Gly) c.995A>G (p.Glu332Gly) | |
12 | g.48981555A>T | CA384638528 | WNT1 | c.1028A>T (p.Glu343Val) c.995A>T (p.Glu332Val) | |
12 | g.48981556G>A | CA479704487 | WNT1 | c.1029G>A (p.Glu343=) c.996G>A (p.Glu332=) | |
12 | g.48981556G>C | CA384638555 | WNT1 | c.1029G>C (p.Glu343Asp) c.996G>C (p.Glu332Asp) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.48981556G= | CA2034902089 | WNT1 | c.1029G= (p.Glu343=) c.996G= (p.Glu332=) | |
12 | g.48981556G>T | CA384638567 | WNT1 | c.1029G>T (p.Glu343Asp) c.996G>T (p.Glu332Asp) | |
12 | g.48981557C>A | CA384638575 | WNT1 | c.1030C>A (p.Arg344Ser) c.997C>A (p.Arg333Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.48981557C= | CA2034902090 | WNT1 | c.1030C= (p.Arg344=) c.997C= (p.Arg333=) | |
12 | g.48981557C>G | CA384638580 | WNT1 | c.1030C>G (p.Arg344Gly) c.997C>G (p.Arg333Gly) | gnomAD v4 |
12 | g.48981557C>T | CA384638594 | WNT1 | c.1030C>T (p.Arg344Cys) c.997C>T (p.Arg333Cys) | gnomAD v4 |
12 | g.48981558G>A | CA384638609 | WNT1 | c.1031G>A (p.Arg344His) c.998G>A (p.Arg333His) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.48981558G>C | CA384638611 | WNT1 | c.1031G>C (p.Arg344Pro) c.998G>C (p.Arg333Pro) | |
12 | g.48981558G= | CA2034902091 | WNT1 | c.1031G= (p.Arg344=) c.998G= (p.Arg333=) | |
12 | g.48981558G>T | CA384638612 | WNT1 | c.1031G>T (p.Arg344Leu) c.998G>T (p.Arg333Leu) | gnomAD v4 |
12 | g.48981559C>A | CA479704490 | WNT1 | c.1032C>A (p.Arg344=) c.999C>A (p.Arg333=) | |
12 | g.48981559C>G | CA479704491 | WNT1 | c.1032C>G (p.Arg344=) c.999C>G (p.Arg333=) | |
12 | g.48981559C>T | CA479704492 | WNT1 | c.1032C>T (p.Arg344=) c.999C>T (p.Arg333=) | gnomAD v4 |
12 | g.48981560del | CA2618599574 | WNT1 | c.1033del (p.Cys345AlafsTer?) c.1000del (p.Cys334AlafsTer?) | gnomAD v4 |
12 | g.48981560T>A | CA384638614 | WNT1 | c.1033T>A (p.Cys345Ser) c.1000T>A (p.Cys334Ser) | |
12 | g.48981560T>C | CA236608820 | WNT1 | c.1033T>C (p.Cys345Arg) c.1000T>C (p.Cys334Arg) | dbSNP gnomAD v4 |
12 | g.48981560T>G | CA384638628 | WNT1 | c.1033T>G (p.Cys345Gly) c.1000T>G (p.Cys334Gly) | dbSNP |
12 | g.48981560T= | CA2034902092 | WNT1 | c.1033T= (p.Cys345=) c.1000T= (p.Cys334=) | |
12 | g.48981561G>A | CA384638633 | WNT1 | c.1034G>A (p.Cys345Tyr) c.1001G>A (p.Cys334Tyr) | gnomAD v4 |
12 | g.48981561G>C | CA384638635 | WNT1 | c.1034G>C (p.Cys345Ser) c.1001G>C (p.Cys334Ser) | |
12 | g.48981561G>T | CA384638639 | WNT1 | c.1034G>T (p.Cys345Phe) c.1001G>T (p.Cys334Phe) | |
12 | g.48981562C>A | CA384638643 | WNT1 | c.1035C>A (p.Cys345Ter) c.1002C>A (p.Cys334Ter) | gnomAD v4 |
12 | g.48981562C>G | CA384638647 | WNT1 | c.1035C>G (p.Cys345Trp) c.1002C>G (p.Cys334Trp) | |
12 | g.48981562C>T | CA479704495 | WNT1 | c.1035C>T (p.Cys345=) c.1002C>T (p.Cys334=) | gnomAD v4 |
12 | g.48981563A>C | CA384638669 | WNT1 | c.1036A>C (p.Asn346His) c.1003A>C (p.Asn335His) | |
12 | g.48981563A>G | CA384638671 | WNT1 | c.1036A>G (p.Asn346Asp) c.1003A>G (p.Asn335Asp) | |
12 | g.48981563A>T | CA384638680 | WNT1 | c.1036A>T (p.Asn346Tyr) c.1003A>T (p.Asn335Tyr) | gnomAD v4 |
12 | g.48981564A>C | CA384638685 | WNT1 | c.1037A>C (p.Asn346Thr) c.1004A>C (p.Asn335Thr) | ClinVar dbSNP |
12 | g.48981564A>G | CA384638688 | WNT1 | c.1037A>G (p.Asn346Ser) c.1004A>G (p.Asn335Ser) | |
12 | g.48981564A>T | CA384638691 | WNT1 | c.1037A>T (p.Asn346Ile) c.1004A>T (p.Asn335Ile) | |
12 | g.48981565C>A | CA384638703 | WNT1 | c.1038C>A (p.Asn346Lys) c.1005C>A (p.Asn335Lys) | gnomAD v4 |
12 | g.48981565C>G | CA384638704 | WNT1 | c.1038C>G (p.Asn346Lys) c.1005C>G (p.Asn335Lys) | |
12 | g.48981565C>T | CA479704501 | WNT1 | c.1038C>T (p.Asn346=) c.1005C>T (p.Asn335=) | |
12 | g.48981566T>A | CA384638705 | WNT1 | c.1039T>A (p.Cys347Ser) c.1006T>A (p.Cys336Ser) | |
12 | g.48981566T>C | CA384638706 | WNT1 | c.1039T>C (p.Cys347Arg) c.1006T>C (p.Cys336Arg) | gnomAD v4 |
12 | g.48981566T>G | CA384638713 | WNT1 | c.1039T>G (p.Cys347Gly) c.1006T>G (p.Cys336Gly) | gnomAD v4 |