Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209617434G>A | CA1374954 | LAMB3 | c.3204C>T (p.Ser1068=) c.411C>T (p.Ser137=) c.3012C>T (p.Ser1004=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617434G>C | CA1374955 | LAMB3 | c.3204C>G (p.Ser1068Arg) c.411C>G (p.Ser137Arg) c.3012C>G (p.Ser1004Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617434G= | CA2484295859 | LAMB3 | c.3204C= (p.Ser1068=) c.411C= (p.Ser137=) c.3012C= (p.Ser1004=) | |
1 | g.209617434G>T | CA344583664 | LAMB3 | c.3204C>A (p.Ser1068Arg) c.411C>A (p.Ser137Arg) c.3012C>A (p.Ser1004Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617435C>A | CA344583669 | LAMB3 | c.3203G>T (p.Ser1068Ile) c.410G>T (p.Ser137Ile) c.3011G>T (p.Ser1004Ile) | |
1 | g.209617435C>G | CA344583671 | LAMB3 | c.3203G>C (p.Ser1068Thr) c.410G>C (p.Ser137Thr) c.3011G>C (p.Ser1004Thr) | |
1 | g.209617435C>T | CA344583679 | LAMB3 | c.3203G>A (p.Ser1068Asn) c.410G>A (p.Ser137Asn) c.3011G>A (p.Ser1004Asn) | |
1 | g.209617436T>A | CA344583687 | LAMB3 | c.3202A>T (p.Ser1068Cys) c.409A>T (p.Ser137Cys) c.3010A>T (p.Ser1004Cys) | |
1 | g.209617436T>C | CA344583690 | LAMB3 | c.3202A>G (p.Ser1068Gly) c.409A>G (p.Ser137Gly) c.3010A>G (p.Ser1004Gly) | |
1 | g.209617436T>G | CA344583684 | LAMB3 | c.3202A>C (p.Ser1068Arg) c.409A>C (p.Ser137Arg) c.3010A>C (p.Ser1004Arg) | |
1 | g.209617437G>A | CA423029371 | LAMB3 | c.3201C>T (p.Ala1067=) c.408C>T (p.Ala136=) c.3009C>T (p.Ala1003=) | ClinVar dbSNP gnomAD v4 |
1 | g.209617437G>C | CA423029373 | LAMB3 | c.3201C>G (p.Ala1067=) c.408C>G (p.Ala136=) c.3009C>G (p.Ala1003=) | |
1 | g.209617437G>T | CA423029372 | LAMB3 | c.3201C>A (p.Ala1067=) c.408C>A (p.Ala136=) c.3009C>A (p.Ala1003=) | |
1 | g.209617438G>A | CA344583693 | LAMB3 | c.3200C>T (p.Ala1067Val) c.407C>T (p.Ala136Val) c.3008C>T (p.Ala1003Val) | |
1 | g.209617438G>C | CA344583695 | LAMB3 | c.3200C>G (p.Ala1067Gly) c.407C>G (p.Ala136Gly) c.3008C>G (p.Ala1003Gly) | |
1 | g.209617438G>T | CA344583704 | LAMB3 | c.3200C>A (p.Ala1067Asp) c.407C>A (p.Ala136Asp) c.3008C>A (p.Ala1003Asp) | gnomAD v4 |
1 | g.209617439C>A | CA344583707 | LAMB3 | c.3199G>T (p.Ala1067Ser) c.406G>T (p.Ala136Ser) c.3007G>T (p.Ala1003Ser) | |
1 | g.209617439C>G | CA344583716 | LAMB3 | c.3199G>C (p.Ala1067Pro) c.406G>C (p.Ala136Pro) c.3007G>C (p.Ala1003Pro) | |
1 | g.209617439C>T | CA344583719 | LAMB3 | c.3199G>A (p.Ala1067Thr) c.406G>A (p.Ala136Thr) c.3007G>A (p.Ala1003Thr) | |
1 | g.209617440A= | CA2484295860 | LAMB3 | c.3198T= (p.Gly1066=) c.405T= (p.Gly135=) c.3006T= (p.Gly1002=) | |
1 | g.209617440A>C | CA423029377 | LAMB3 | c.3198T>G (p.Gly1066=) c.405T>G (p.Gly135=) c.3006T>G (p.Gly1002=) | dbSNP |
1 | g.209617440A>G | CA423029378 | LAMB3 | c.3198T>C (p.Gly1066=) c.405T>C (p.Gly135=) c.3006T>C (p.Gly1002=) | gnomAD v4 |
1 | g.209617440A>T | CA423029379 | LAMB3 | c.3198T>A (p.Gly1066=) c.405T>A (p.Gly135=) c.3006T>A (p.Gly1002=) | |
1 | g.209617441C>A | CA344583732 | LAMB3 | c.3197G>T (p.Gly1066Val) c.404G>T (p.Gly135Val) c.3005G>T (p.Gly1002Val) | gnomAD v4 |
1 | g.209617441C= | CA2484295861 | LAMB3 | c.3197G= (p.Gly1066=) c.404G= (p.Gly135=) c.3005G= (p.Gly1002=) | |
1 | g.209617441C>G | CA344583723 | LAMB3 | c.3197G>C (p.Gly1066Ala) c.404G>C (p.Gly135Ala) c.3005G>C (p.Gly1002Ala) | gnomAD v4 |
1 | g.209617441C>T | CA344583726 | LAMB3 | c.3197G>A (p.Gly1066Asp) c.404G>A (p.Gly135Asp) c.3005G>A (p.Gly1002Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209617442C>A | CA344583735 | LAMB3 | c.3196G>T (p.Gly1066Cys) c.403G>T (p.Gly135Cys) c.3004G>T (p.Gly1002Cys) | |
1 | g.209617442C>G | CA344583737 | LAMB3 | c.3196G>C (p.Gly1066Arg) c.403G>C (p.Gly135Arg) c.3004G>C (p.Gly1002Arg) | |
1 | g.209617442C>T | CA344583739 | LAMB3 | c.3196G>A (p.Gly1066Ser) c.403G>A (p.Gly135Ser) c.3004G>A (p.Gly1002Ser) | |
1 | g.209617443T>A | CA344583743 | LAMB3 | c.3195A>T (p.Glu1065Asp) c.402A>T (p.Glu134Asp) c.3003A>T (p.Glu1001Asp) | |
1 | g.209617443T>C | CA423029387 | LAMB3 | c.3195A>G (p.Glu1065=) c.402A>G (p.Glu134=) c.3003A>G (p.Glu1001=) | |
1 | g.209617443T>G | CA344583751 | LAMB3 | c.3195A>C (p.Glu1065Asp) c.402A>C (p.Glu134Asp) c.3003A>C (p.Glu1001Asp) | |
1 | g.209617444T>A | CA344583761 | LAMB3 | c.3194A>T (p.Glu1065Val) c.401A>T (p.Glu134Val) c.3002A>T (p.Glu1001Val) | |
1 | g.209617444T>C | CA344583755 | LAMB3 | c.3194A>G (p.Glu1065Gly) c.401A>G (p.Glu134Gly) c.3002A>G (p.Glu1001Gly) | gnomAD v4 |
1 | g.209617444T>G | CA344583758 | LAMB3 | c.3194A>C (p.Glu1065Ala) c.401A>C (p.Glu134Ala) c.3002A>C (p.Glu1001Ala) | |
1 | g.209617445C>A | CA344583764 | LAMB3 | c.3193G>T (p.Glu1065Ter) c.400G>T (p.Glu134Ter) c.3001G>T (p.Glu1001Ter) | gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617445C= | CA2484295862 | LAMB3 | c.3193G= (p.Glu1065=) c.400G= (p.Glu134=) c.3001G= (p.Glu1001=) | |
1 | g.209617445C>G | CA344583767 | LAMB3 | c.3193G>C (p.Glu1065Gln) c.400G>C (p.Glu134Gln) c.3001G>C (p.Glu1001Gln) | |
1 | g.209617445C>T | CA1374956 | LAMB3 | c.3193G>A (p.Glu1065Lys) c.400G>A (p.Glu134Lys) c.3001G>A (p.Glu1001Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209617446C>A | CA423029392 | LAMB3 | c.3192G>T (p.Ala1064=) c.399G>T (p.Ala133=) c.3000G>T (p.Ala1000=) | |
1 | g.209617446C= | CA1141454234 | LAMB3 | c.3192G= (p.Ala1064=) c.399G= (p.Ala133=) c.3000G= (p.Ala1000=) | |
1 | g.209617446C>G | CA423029393 | LAMB3 | c.3192G>C (p.Ala1064=) c.399G>C (p.Ala133=) c.3000G>C (p.Ala1000=) | |
1 | g.209617446C>T | CA1374957 | LAMB3 | c.3192G>A (p.Ala1064=) c.399G>A (p.Ala133=) c.3000G>A (p.Ala1000=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209617447G>A | CA1374958 | LAMB3 | c.3191C>T (p.Ala1064Val) c.398C>T (p.Ala133Val) c.2999C>T (p.Ala1000Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209617447G>C | CA344583782 | LAMB3 | c.3191C>G (p.Ala1064Gly) c.398C>G (p.Ala133Gly) c.2999C>G (p.Ala1000Gly) | |
1 | g.209617447G= | CA1143575845 | LAMB3 | c.3191C= (p.Ala1064=) c.398C= (p.Ala133=) c.2999C= (p.Ala1000=) | |
1 | g.209617447G>T | CA344583787 | LAMB3 | c.3191C>A (p.Ala1064Glu) c.398C>A (p.Ala133Glu) c.2999C>A (p.Ala1000Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209617447_209617448delinsTA | CA2586967983 | LAMB3 | c.3190_3191delinsTA (p.Ala1064Ter) c.397_398delinsTA (p.Ala133Ter) c.2998_2999delinsTA (p.Ala1000Ter) | ClinVar |
1 | g.209617448C>A | CA344583788 | LAMB3 | c.3190G>T (p.Ala1064Ser) c.397G>T (p.Ala133Ser) c.2998G>T (p.Ala1000Ser) | gnomAD v4 |