Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.72007785_72007829del | CA2541830907 | CHST3 | c.754_798del (p.Cys252_Arg266del) | |
10 | g.72007788G>A | CA5548159 | CHST3 | c.757G>A (p.Gly253Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007788G>C | CA377146550 | CHST3 | c.757G>C (p.Gly253Arg) | |
10 | g.72007788G= | CA1918976296 | CHST3 | c.757G= (p.Gly253=) | |
10 | g.72007788G>T | CA377146553 | CHST3 | c.757G>T (p.Gly253Cys) | |
10 | g.72007789G>A | CA377146556 | CHST3 | c.758G>A (p.Gly253Asp) | |
10 | g.72007789G>C | CA377146558 | CHST3 | c.758G>C (p.Gly253Ala) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.72007789G= | CA1918976300 | CHST3 | c.758G= (p.Gly253=) | |
10 | g.72007789G>T | CA377146561 | CHST3 | c.758G>T (p.Gly253Val) | |
10 | g.72007789_72007790delinsGC | CA1918976302 | CHST3 | c.758_759delinsGC (p.Gly253=) | |
10 | g.72007790C>A | CA470283831 | CHST3 | c.759C>A (p.Gly253=) | dbSNP gnomAD v4 |
10 | g.72007790C= | CA1918976307 | CHST3 | c.759C= (p.Gly253=) | |
10 | g.72007790C>G | CA470283832 | CHST3 | c.759C>G (p.Gly253=) | |
10 | g.72007790C>T | CA5548160 | CHST3 | c.759C>T (p.Gly253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007794dup | CA2739291345 | CHST3 | c.763dup (p.Leu255ProfsTer?) | |
10 | g.72007794del | CA594706448 | CHST3 | c.763del (p.Leu255SerfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.72007791C>A | CA377146566 | CHST3 | c.760C>A (p.Pro254Thr) | |
10 | g.72007791C= | CA1918976312 | CHST3 | c.760C= (p.Pro254=) | |
10 | g.72007791C>G | CA5548161 | CHST3 | c.760C>G (p.Pro254Ala) | dbSNP ExAC gnomAD v2 |
10 | g.72007791C>T | CA209479226 | CHST3 | c.760C>T (p.Pro254Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.72007792C>A | CA377146577 | CHST3 | c.761C>A (p.Pro254His) | gnomAD v4 |
10 | g.72007792C>G | CA377146573 | CHST3 | c.761C>G (p.Pro254Arg) | |
10 | g.72007792C>T | CA377146576 | CHST3 | c.761C>T (p.Pro254Leu) | gnomAD v4 |
10 | g.72007793C>A | CA470283839 | CHST3 | c.762C>A (p.Pro254=) | |
10 | g.72007793C= | CA1918976315 | CHST3 | c.762C= (p.Pro254=) | |
10 | g.72007793C>G | CA470283837 | CHST3 | c.762C>G (p.Pro254=) | |
10 | g.72007793C>T | CA470283838 | CHST3 | c.762C>T (p.Pro254=) | dbSNP gnomAD v4 |
10 | g.72007794C>A | CA377146582 | CHST3 | c.763C>A (p.Leu255Ile) | |
10 | g.72007794C>G | CA377146584 | CHST3 | c.763C>G (p.Leu255Val) | |
10 | g.72007794C>T | CA377146586 | CHST3 | c.763C>T (p.Leu255Phe) | |
10 | g.72007795T>A | CA377146588 | CHST3 | c.764T>A (p.Leu255His) | |
10 | g.72007795T>C | CA377146590 | CHST3 | c.764T>C (p.Leu255Pro) | |
10 | g.72007795T>G | CA377146592 | CHST3 | c.764T>G (p.Leu255Arg) | |
10 | g.72007796C>A | CA470283843 | CHST3 | c.765C>A (p.Leu255=) | |
10 | g.72007796C>G | CA470283844 | CHST3 | c.765C>G (p.Leu255=) | |
10 | g.72007796C>T | CA470283845 | CHST3 | c.765C>T (p.Leu255=) | gnomAD v4 |
10 | g.72007797A>C | CA377146595 | CHST3 | c.766A>C (p.Asn256His) | |
10 | g.72007797A>G | CA377146596 | CHST3 | c.766A>G (p.Asn256Asp) | |
10 | g.72007797A>T | CA377146599 | CHST3 | c.766A>T (p.Asn256Tyr) | gnomAD v4 |
10 | g.72007798A= | CA1918976318 | CHST3 | c.767A= (p.Asn256=) | |
10 | g.72007798A>C | CA5548163 | CHST3 | c.767A>C (p.Asn256Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.72007798A>G | CA5548162 | CHST3 | c.767A>G (p.Asn256Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.72007798A>T | CA377146605 | CHST3 | c.767A>T (p.Asn256Ile) | |
10 | g.72007799C>A | CA377146607 | CHST3 | c.768C>A (p.Asn256Lys) | |
10 | g.72007799C= | CA1918976321 | CHST3 | c.768C= (p.Asn256=) | |
10 | g.72007799C>G | CA377146609 | CHST3 | c.768C>G (p.Asn256Lys) | ClinVar dbSNP |
10 | g.72007799C>T | CA470283850 | CHST3 | c.768C>T (p.Asn256=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.72007800G>A | CA377146612 | CHST3 | c.769G>A (p.Val257Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007800G>C | CA5548164 | CHST3 | c.769G>C (p.Val257Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.72007800G= | CA1918976324 | CHST3 | c.769G= (p.Val257=) |