Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.116592976del | CA2680116115 | RWDD1 | c.611-4del (n.611-4del) c.323-4del (n.323-4del) | gnomAD v4 |
6 | g.116592976G>C | CA2772740437 | RWDD1 | c.611-4G>C (n.611-4G>C) c.323-4G>C (n.323-4G>C) | |
6 | g.116592976G= | CA1657300387 | RWDD1 | c.611-4G= (n.611-4G=) c.323-4G= (n.323-4G=) | |
6 | g.116592976G>T | CA569698059 | RWDD1 | c.611-4G>T (n.611-4G>T) c.323-4G>T (n.323-4G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592976_116592977del | CA2772740439 | RWDD1 | c.611-4_611-3del (n.611-4_611-3del) c.323-4_323-3del (n.323-4_323-3del) | |
6 | g.116592976_116592979del | CA1093548337 | RWDD1 | c.611-4_611-1del (n.611-4_611-1del) c.323-4_323-1del (n.323-4_323-1del) | gnomAD v3 gnomAD v4 |
6 | g.116592976_116592980del | CA1093548332 | RWDD1 | c.611-4_611del c.323-4_323del | gnomAD v3 gnomAD v4 |
6 | g.116592978_116592980del | CA1093548340 | RWDD1 | c.611-2_611del c.323-2_323del | gnomAD v3 gnomAD v4 |
6 | g.116592976_116592983del | CA2772740438 | RWDD1 | c.611-4_614del c.323-4_326del | |
6 | g.116592977C>A | CA2680116116 | RWDD1 | c.611-3C>A (n.611-3C>A) c.323-3C>A (n.323-3C>A) | gnomAD v4 |
6 | g.116592977C= | CA1657300388 | RWDD1 | c.611-3C= (n.611-3C=) c.323-3C= (n.323-3C=) | |
6 | g.116592977C>G | CA2680116117 | RWDD1 | c.611-3C>G (n.611-3C>G) c.323-3C>G (n.323-3C>G) | gnomAD v4 |
6 | g.116592977C>T | CA569698061 | RWDD1 | c.611-3C>T (n.611-3C>T) c.323-3C>T (n.323-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592977_116592980del | CA2772740440 | RWDD1 | c.611-3_611del c.323-3_323del | |
6 | g.116592977_116592978insTTTTTT | CA2680116118 | RWDD1 | c.611-3_611-2insTTTTTT (n.611-3_611-2insTTTTTT) c.323-3_323-2insTTTTTT (n.323-3_323-2insTTTTTT) | gnomAD v4 |
6 | g.116592978A>C | CA365417082 | RWDD1 | c.611-2A>C (n.611-2A>C) c.323-2A>C (n.323-2A>C) | gnomAD v4 |
6 | g.116592978A>G | CA365417081 | RWDD1 | c.611-2A>G (n.611-2A>G) c.323-2A>G (n.323-2A>G) | |
6 | g.116592978A>T | CA365417079 | RWDD1 | c.611-2A>T (n.611-2A>T) c.323-2A>T (n.323-2A>T) | gnomAD v4 |
6 | g.116592978_116592979insTTTTTTTT | CA1093548349 | RWDD1 | c.611-2_611-1insTTTTTTTT (n.611-2_611-1insTTTTTTTT) c.323-2_323-1insTTTTTTTT (n.323-2_323-1insTTTTTTTT) | gnomAD v3 gnomAD v4 |
6 | g.116592979G>A | CA365417084 | RWDD1 | c.611-1G>A (n.611-1G>A) c.323-1G>A (n.323-1G>A) | |
6 | g.116592979G>C | CA365417086 | RWDD1 | c.611-1G>C (n.611-1G>C) c.323-1G>C (n.323-1G>C) | |
6 | g.116592979G= | CA1657300389 | RWDD1 | c.611-1G= (n.611-1G=) c.323-1G= (n.323-1G=) | |
6 | g.116592979G>T | CA365417088 | RWDD1 | c.611-1G>T (n.611-1G>T) c.323-1G>T (n.323-1G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116592979_116592980insTTTT | CA1093548355 | RWDD1 | c.611-1_611insTTTT (n.611-1_611insTTTT) c.323-1_323insTTTT (n.323-1_323insTTTT) | gnomAD v3 gnomAD v4 |
6 | g.116592980C>A | CA365417090 | RWDD1 | c.611C>A (p.Ala204Asp) c.323C>A (p.Ala108Asp) | gnomAD v4 |
6 | g.116592980C>G | CA365417092 | RWDD1 | c.611C>G (p.Ala204Gly) c.323C>G (p.Ala108Gly) | |
6 | g.116592980C>T | CA365417094 | RWDD1 | c.611C>T (p.Ala204Val) c.323C>T (p.Ala108Val) | gnomAD v3 gnomAD v4 |
6 | g.116592981T>A | CA451623066 | RWDD1 | c.612T>A (p.Ala204=) c.324T>A (p.Ala108=) | |
6 | g.116592981T>C | CA451623067 | RWDD1 | c.612T>C (p.Ala204=) c.324T>C (p.Ala108=) | gnomAD v4 |
6 | g.116592981T>G | CA145912763 | RWDD1 | c.612T>G (p.Ala204=) c.324T>G (p.Ala108=) | dbSNP gnomAD v4 |
6 | g.116592981T= | CA1657300390 | RWDD1 | c.612T= (p.Ala204=) c.324T= (p.Ala108=) | |
6 | g.116592982G>A | CA365417095 | RWDD1 | c.613G>A (p.Gly205Arg) c.325G>A (p.Gly109Arg) | dbSNP gnomAD v4 COSMIC |
6 | g.116592982G>C | CA365417097 | RWDD1 | c.613G>C (p.Gly205Arg) c.325G>C (p.Gly109Arg) | |
6 | g.116592982G= | CA1657300391 | RWDD1 | c.613G= (p.Gly205=) c.325G= (p.Gly109=) | |
6 | g.116592982G>T | CA365417099 | RWDD1 | c.613G>T (p.Gly205Ter) c.325G>T (p.Gly109Ter) | gnomAD v3 gnomAD v4 |
6 | g.116592982_116592984del | CA2772740442 | RWDD1 | c.613_615del (p.Gly205del) c.325_327del (p.Gly109del) | |
6 | g.116592983G>A | CA365417101 | RWDD1 | c.614G>A (p.Gly205Glu) c.326G>A (p.Gly109Glu) | |
6 | g.116592983G>C | CA365417103 | RWDD1 | c.614G>C (p.Gly205Ala) c.326G>C (p.Gly109Ala) | COSMIC |
6 | g.116592983G>T | CA365417104 | RWDD1 | c.614G>T (p.Gly205Val) c.326G>T (p.Gly109Val) | gnomAD v4 |
6 | g.116592984A>C | CA451623069 | RWDD1 | c.615A>C (p.Gly205=) c.327A>C (p.Gly109=) | gnomAD v4 |
6 | g.116592984A>G | CA451623070 | RWDD1 | c.615A>G (p.Gly205=) c.327A>G (p.Gly109=) | |
6 | g.116592984A>T | CA451623072 | RWDD1 | c.615A>T (p.Gly205=) c.327A>T (p.Gly109=) | |
6 | g.116592984_116592987delinsAAAC | CA1657300392 | RWDD1 | c.615_618delinsAAAC (p.Gly205=) c.327_330delinsAAAC (p.Gly109=) | |
6 | g.116592985A= | CA1657300393 | RWDD1 | c.616A= (p.Asn206=) c.328A= (p.Asn110=) | |
6 | g.116592985A>C | CA365417109 | RWDD1 | c.616A>C (p.Asn206His) c.328A>C (p.Asn110His) | dbSNP gnomAD v2 |
6 | g.116592985A>G | CA365417107 | RWDD1 | c.616A>G (p.Asn206Asp) c.328A>G (p.Asn110Asp) | gnomAD v4 |
6 | g.116592985A>T | CA365417105 | RWDD1 | c.616A>T (p.Asn206Tyr) c.328A>T (p.Asn110Tyr) | |
6 | g.116592988_116592990del | CA569698063 | RWDD1 | c.619_621del (p.Asn207del) c.331_333del (p.Asn111del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592986A>C | CA365417111 | RWDD1 | c.617A>C (p.Asn206Thr) c.329A>C (p.Asn110Thr) | |
6 | g.116592986A>G | CA365417115 | RWDD1 | c.617A>G (p.Asn206Ser) c.329A>G (p.Asn110Ser) | |
6 | g.116592986A>T | CA365417113 | RWDD1 | c.617A>T (p.Asn206Ile) c.329A>T (p.Asn110Ile) | |
6 | g.116592987C>A | CA365417117 | RWDD1 | c.618C>A (p.Asn206Lys) c.330C>A (p.Asn110Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592987C= | CA1657300394 | RWDD1 | c.618C= (p.Asn206=) c.330C= (p.Asn110=) | |
6 | g.116592987C>G | CA365417119 | RWDD1 | c.618C>G (p.Asn206Lys) c.330C>G (p.Asn110Lys) | |
6 | g.116592987C>T | CA451623074 | RWDD1 | c.618C>T (p.Asn206=) c.330C>T (p.Asn110=) | |
6 | g.116592988A>C | CA365417120 | RWDD1 | c.619A>C (p.Asn207His) c.331A>C (p.Asn111His) | |
6 | g.116592988A>G | CA365417122 | RWDD1 | c.619A>G (p.Asn207Asp) c.331A>G (p.Asn111Asp) | |
6 | g.116592988A>T | CA365417124 | RWDD1 | c.619A>T (p.Asn207Tyr) c.331A>T (p.Asn111Tyr) | |
6 | g.116592989A>C | CA365417126 | RWDD1 | c.620A>C (p.Asn207Thr) c.332A>C (p.Asn111Thr) | |
6 | g.116592989A>G | CA365417128 | RWDD1 | c.620A>G (p.Asn207Ser) c.332A>G (p.Asn111Ser) | gnomAD v4 |
6 | g.116592989A>T | CA365417130 | RWDD1 | c.620A>T (p.Asn207Ile) c.332A>T (p.Asn111Ile) | |
6 | g.116592990C>A | CA365417131 | RWDD1 | c.621C>A (p.Asn207Lys) c.333C>A (p.Asn111Lys) | gnomAD v3 gnomAD v4 |
6 | g.116592990C= | CA1657300395 | RWDD1 | c.621C= (p.Asn207=) c.333C= (p.Asn111=) | |
6 | g.116592990C>G | CA365417132 | RWDD1 | c.621C>G (p.Asn207Lys) c.333C>G (p.Asn111Lys) | |
6 | g.116592990C>T | CA3970650 | RWDD1 | c.621C>T (p.Asn207=) c.333C>T (p.Asn111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592991G>A | CA3970651 | RWDD1 | c.622G>A (p.Val208Met) c.334G>A (p.Val112Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592991G>C | CA365417135 | RWDD1 | c.622G>C (p.Val208Leu) c.334G>C (p.Val112Leu) | gnomAD v4 |
6 | g.116592991G= | CA1657300396 | RWDD1 | c.622G= (p.Val208=) c.334G= (p.Val112=) | |
6 | g.116592991G>T | CA365417137 | RWDD1 | c.622G>T (p.Val208Leu) c.334G>T (p.Val112Leu) | gnomAD v3 gnomAD v4 |
6 | g.116592992T>A | CA365417140 | RWDD1 | c.623T>A (p.Val208Glu) c.335T>A (p.Val112Glu) | |
6 | g.116592992T>C | CA365417142 | RWDD1 | c.623T>C (p.Val208Ala) c.335T>C (p.Val112Ala) | |
6 | g.116592992T>G | CA365417144 | RWDD1 | c.623T>G (p.Val208Gly) c.335T>G (p.Val112Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592992T= | CA1657300397 | RWDD1 | c.623T= (p.Val208=) c.335T= (p.Val112=) | |
6 | g.116592993G>A | CA451623079 | RWDD1 | c.624G>A (p.Val208=) c.336G>A (p.Val112=) | dbSNP gnomAD v4 COSMIC |
6 | g.116592993G>C | CA451623080 | RWDD1 | c.624G>C (p.Val208=) c.336G>C (p.Val112=) | |
6 | g.116592993G= | CA1657300398 | RWDD1 | c.624G= (p.Val208=) c.336G= (p.Val112=) | |
6 | g.116592993G>T | CA451623081 | RWDD1 | c.624G>T (p.Val208=) c.336G>T (p.Val112=) | gnomAD v3 gnomAD v4 |
6 | g.116592994G>A | CA145912783 | RWDD1 | c.625G>A (p.Glu209Lys) c.337G>A (p.Glu113Lys) | dbSNP COSMIC |
6 | g.116592994G>C | CA365417146 | RWDD1 | c.625G>C (p.Glu209Gln) c.337G>C (p.Glu113Gln) | |
6 | g.116592994G= | CA1657300399 | RWDD1 | c.625G= (p.Glu209=) c.337G= (p.Glu113=) | |
6 | g.116592994G>T | CA365417147 | RWDD1 | c.625G>T (p.Glu209Ter) c.337G>T (p.Glu113Ter) | |
6 | g.116592995A= | CA1657300400 | RWDD1 | c.626A= (p.Glu209=) c.338A= (p.Glu113=) | |
6 | g.116592995A>C | CA3970652 | RWDD1 | c.626A>C (p.Glu209Ala) c.338A>C (p.Glu113Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116592995A>G | CA3970653 | RWDD1 | c.626A>G (p.Glu209Gly) c.338A>G (p.Glu113Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116592995A>T | CA365417151 | RWDD1 | c.626A>T (p.Glu209Val) c.338A>T (p.Glu113Val) | |
6 | g.116592996G>A | CA451623086 | RWDD1 | c.627G>A (p.Glu209=) c.339G>A (p.Glu113=) | |
6 | g.116592996G>C | CA365417153 | RWDD1 | c.627G>C (p.Glu209Asp) c.339G>C (p.Glu113Asp) | |
6 | g.116592996G>T | CA365417155 | RWDD1 | c.627G>T (p.Glu209Asp) c.339G>T (p.Glu113Asp) | gnomAD v3 gnomAD v4 |
6 | g.116592997G>A | CA365417159 | RWDD1 | c.628G>A (p.Val210Ile) c.340G>A (p.Val114Ile) | |
6 | g.116592997G>C | CA365417160 | RWDD1 | c.628G>C (p.Val210Leu) c.340G>C (p.Val114Leu) | |
6 | g.116592997G>T | CA365417157 | RWDD1 | c.628G>T (p.Val210Leu) c.340G>T (p.Val114Leu) | |
6 | g.116592998T>A | CA365417162 | RWDD1 | c.629T>A (p.Val210Glu) c.341T>A (p.Val114Glu) | |
6 | g.116592998T>C | CA365417163 | RWDD1 | c.629T>C (p.Val210Ala) c.341T>C (p.Val114Ala) | |
6 | g.116592998T>G | CA365417165 | RWDD1 | c.629T>G (p.Val210Gly) c.341T>G (p.Val114Gly) | dbSNP |
6 | g.116592998T= | CA1657300401 | RWDD1 | c.629T= (p.Val210=) c.341T= (p.Val114=) | |
6 | g.116592999A= | CA1657300402 | RWDD1 | c.630A= (p.Val210=) c.342A= (p.Val114=) | |
6 | g.116592999A>C | CA451623090 | RWDD1 | c.630A>C (p.Val210=) c.342A>C (p.Val114=) | |
6 | g.116592999A>G | CA3970654 | RWDD1 | c.630A>G (p.Val210=) c.342A>G (p.Val114=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116592999A>T | CA451623092 | RWDD1 | c.630A>T (p.Val210=) c.342A>T (p.Val114=) | |
6 | g.116593000G>A | CA365417168 | RWDD1 | c.631G>A (p.Asp211Asn) c.343G>A (p.Asp115Asn) | |
6 | g.116593000G>C | CA365417169 | RWDD1 | c.631G>C (p.Asp211His) c.343G>C (p.Asp115His) | |
6 | g.116593000G>T | CA365417171 | RWDD1 | c.631G>T (p.Asp211Tyr) c.343G>T (p.Asp115Tyr) | gnomAD v3 gnomAD v4 |
6 | g.116593001A>C | CA365417173 | RWDD1 | c.632A>C (p.Asp211Ala) c.344A>C (p.Asp115Ala) | |
6 | g.116593001A>G | CA365417174 | RWDD1 | c.632A>G (p.Asp211Gly) c.344A>G (p.Asp115Gly) | |
6 | g.116593001A>T | CA365417176 | RWDD1 | c.632A>T (p.Asp211Val) c.344A>T (p.Asp115Val) | |
6 | g.116593002T>A | CA365417178 | RWDD1 | c.633T>A (p.Asp211Glu) c.345T>A (p.Asp115Glu) | |
6 | g.116593002T>C | CA451623094 | RWDD1 | c.633T>C (p.Asp211=) c.345T>C (p.Asp115=) | |
6 | g.116593002T>G | CA365417180 | RWDD1 | c.633T>G (p.Asp211Glu) c.345T>G (p.Asp115Glu) | gnomAD v4 |
6 | g.116593003G>A | CA365417184 | RWDD1 | c.634G>A (p.Glu212Lys) c.346G>A (p.Glu116Lys) | |
6 | g.116593003G>C | CA365417185 | RWDD1 | c.634G>C (p.Glu212Gln) c.346G>C (p.Glu116Gln) | |
6 | g.116593003G>T | CA365417182 | RWDD1 | c.634G>T (p.Glu212Ter) c.346G>T (p.Glu116Ter) | gnomAD v3 gnomAD v4 |
6 | g.116593004A>C | CA365417187 | RWDD1 | c.635A>C (p.Glu212Ala) c.347A>C (p.Glu116Ala) | |
6 | g.116593004A>G | CA365417189 | RWDD1 | c.635A>G (p.Glu212Gly) c.347A>G (p.Glu116Gly) | |
6 | g.116593004A>T | CA365417191 | RWDD1 | c.635A>T (p.Glu212Val) c.347A>T (p.Glu116Val) | |
6 | g.116593005G>A | CA451623095 | RWDD1 | c.636G>A (p.Glu212=) c.348G>A (p.Glu116=) | |
6 | g.116593005G>C | CA365417193 | RWDD1 | c.636G>C (p.Glu212Asp) c.348G>C (p.Glu116Asp) | |
6 | g.116593005G>T | CA365417195 | RWDD1 | c.636G>T (p.Glu212Asp) c.348G>T (p.Glu116Asp) | |
6 | g.116593006T>A | CA365417199 | RWDD1 | c.637T>A (p.Ser213Thr) c.349T>A (p.Ser117Thr) | dbSNP gnomAD v4 |
6 | g.116593006T>C | CA365417196 | RWDD1 | c.637T>C (p.Ser213Pro) c.349T>C (p.Ser117Pro) | gnomAD v4 |
6 | g.116593006T>G | CA365417198 | RWDD1 | c.637T>G (p.Ser213Ala) c.349T>G (p.Ser117Ala) | |
6 | g.116593006T= | CA1657300403 | RWDD1 | c.637T= (p.Ser213=) c.349T= (p.Ser117=) | |
6 | g.116593007C>A | CA365417202 | RWDD1 | c.638C>A (p.Ser213Tyr) c.350C>A (p.Ser117Tyr) | dbSNP |
6 | g.116593007C= | CA1657300404 | RWDD1 | c.638C= (p.Ser213=) c.350C= (p.Ser117=) | |
6 | g.116593007C>G | CA365417204 | RWDD1 | c.638C>G (p.Ser213Cys) c.350C>G (p.Ser117Cys) | |
6 | g.116593007C>T | CA365417206 | RWDD1 | c.638C>T (p.Ser213Phe) c.350C>T (p.Ser117Phe) | gnomAD v4 |
6 | g.116593008T>A | CA451623098 | RWDD1 | c.639T>A (p.Ser213=) c.351T>A (p.Ser117=) | |
6 | g.116593008T>C | CA451623099 | RWDD1 | c.639T>C (p.Ser213=) c.351T>C (p.Ser117=) | |
6 | g.116593008T>G | CA451623100 | RWDD1 | c.639T>G (p.Ser213=) c.351T>G (p.Ser117=) | |
6 | g.116593009T>A | CA365417208 | RWDD1 | c.640T>A (p.Leu214Met) c.352T>A (p.Leu118Met) | |
6 | g.116593009T>C | CA451623101 | RWDD1 | c.640T>C (p.Leu214=) c.352T>C (p.Leu118=) | dbSNP |
6 | g.116593009T>G | CA365417209 | RWDD1 | c.640T>G (p.Leu214Val) c.352T>G (p.Leu118Val) | |
6 | g.116593009T= | CA1657300405 | RWDD1 | c.640T= (p.Leu214=) c.352T= (p.Leu118=) | |
6 | g.116593010T>A | CA365417215 | RWDD1 | c.641T>A (p.Leu214Ter) c.353T>A (p.Leu118Ter) | |
6 | g.116593010T>C | CA365417213 | RWDD1 | c.641T>C (p.Leu214Ser) c.353T>C (p.Leu118Ser) | |
6 | g.116593010T>G | CA365417211 | RWDD1 | c.641T>G (p.Leu214Trp) c.353T>G (p.Leu118Trp) | |
6 | g.116593011G>A | CA3970655 | RWDD1 | c.642G>A (p.Leu214=) c.354G>A (p.Leu118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116593011G>C | CA365417220 | RWDD1 | c.642G>C (p.Leu214Phe) c.354G>C (p.Leu118Phe) | |
6 | g.116593011G= | CA1657300406 | RWDD1 | c.642G= (p.Leu214=) c.354G= (p.Leu118=) | |
6 | g.116593011G>T | CA365417218 | RWDD1 | c.642G>T (p.Leu214Phe) c.354G>T (p.Leu118Phe) | gnomAD v4 |
6 | g.116593012T>A | CA365417222 | RWDD1 | c.643T>A (p.Phe215Ile) c.355T>A (p.Phe119Ile) | |
6 | g.116593012T>C | CA365417225 | RWDD1 | c.643T>C (p.Phe215Leu) c.355T>C (p.Phe119Leu) | |
6 | g.116593012T>G | CA365417223 | RWDD1 | c.643T>G (p.Phe215Val) c.355T>G (p.Phe119Val) | |
6 | g.116593013T>A | CA365417226 | RWDD1 | c.644T>A (p.Phe215Tyr) c.356T>A (p.Phe119Tyr) | |
6 | g.116593013T>C | CA365417228 | RWDD1 | c.644T>C (p.Phe215Ser) c.356T>C (p.Phe119Ser) | |
6 | g.116593013T>G | CA365417230 | RWDD1 | c.644T>G (p.Phe215Cys) c.356T>G (p.Phe119Cys) | |
6 | g.116593014C>A | CA365417232 | RWDD1 | c.645C>A (p.Phe215Leu) c.357C>A (p.Phe119Leu) | |
6 | g.116593014C= | CA1657300407 | RWDD1 | c.645C= (p.Phe215=) c.357C= (p.Phe119=) | |
6 | g.116593014C>G | CA365417233 | RWDD1 | c.645C>G (p.Phe215Leu) c.357C>G (p.Phe119Leu) | |
6 | g.116593014C>T | CA3970656 | RWDD1 | c.645C>T (p.Phe215=) c.357C>T (p.Phe119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116593015C>A | CA365417237 | RWDD1 | c.646C>A (p.Gln216Lys) c.358C>A (p.Gln120Lys) | |
6 | g.116593015C= | CA1657300408 | RWDD1 | c.646C= (p.Gln216=) c.358C= (p.Gln120=) | |
6 | g.116593015C>G | CA365417238 | RWDD1 | c.646C>G (p.Gln216Glu) c.358C>G (p.Gln120Glu) | gnomAD v4 |
6 | g.116593015C>T | CA365417240 | RWDD1 | c.646C>T (p.Gln216Ter) c.358C>T (p.Gln120Ter) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116593016A>C | CA365417242 | RWDD1 | c.647A>C (p.Gln216Pro) c.359A>C (p.Gln120Pro) | |
6 | g.116593016A>G | CA365417244 | RWDD1 | c.647A>G (p.Gln216Arg) c.359A>G (p.Gln120Arg) | |
6 | g.116593016A>T | CA365417246 | RWDD1 | c.647A>T (p.Gln216Leu) c.359A>T (p.Gln120Leu) | |
6 | g.116593017A>C | CA365417250 | RWDD1 | c.648A>C (p.Gln216His) c.360A>C (p.Gln120His) | |
6 | g.116593017A>G | CA451623111 | RWDD1 | c.648A>G (p.Gln216=) c.360A>G (p.Gln120=) | |
6 | g.116593017A>T | CA365417247 | RWDD1 | c.648A>T (p.Gln216His) c.360A>T (p.Gln120His) | |
6 | g.116593018G>A | CA365417252 | RWDD1 | c.649G>A (p.Glu217Lys) c.361G>A (p.Glu121Lys) | |
6 | g.116593018G>C | CA365417253 | RWDD1 | c.649G>C (p.Glu217Gln) c.361G>C (p.Glu121Gln) | |
6 | g.116593018G>T | CA365417255 | RWDD1 | c.649G>T (p.Glu217Ter) c.361G>T (p.Glu121Ter) | |
6 | g.116593019A>C | CA365417257 | RWDD1 | c.650A>C (p.Glu217Ala) c.362A>C (p.Glu121Ala) | |
6 | g.116593019A>G | CA365417259 | RWDD1 | c.650A>G (p.Glu217Gly) c.362A>G (p.Glu121Gly) | |
6 | g.116593019A>T | CA365417261 | RWDD1 | c.650A>T (p.Glu217Val) c.362A>T (p.Glu121Val) | |
6 | g.116593020A>C | CA365417263 | RWDD1 | c.651A>C (p.Glu217Asp) c.363A>C (p.Glu121Asp) | |
6 | g.116593020A>G | CA451623115 | RWDD1 | c.651A>G (p.Glu217=) c.363A>G (p.Glu121=) | |
6 | g.116593020A>T | CA365417264 | RWDD1 | c.651A>T (p.Glu217Asp) c.363A>T (p.Glu121Asp) | |
6 | g.116593021A>C | CA365417267 | RWDD1 | c.652A>C (p.Met218Leu) c.364A>C (p.Met122Leu) | |
6 | g.116593021A>G | CA365417269 | RWDD1 | c.652A>G (p.Met218Val) c.364A>G (p.Met122Val) | |
6 | g.116593021A>T | CA365417270 | RWDD1 | c.652A>T (p.Met218Leu) c.364A>T (p.Met122Leu) | |
6 | g.116593022T>A | CA365417276 | RWDD1 | c.653T>A (p.Met218Lys) c.365T>A (p.Met122Lys) | |
6 | g.116593022T>C | CA365417275 | RWDD1 | c.653T>C (p.Met218Thr) c.365T>C (p.Met122Thr) | |
6 | g.116593022T>G | CA365417273 | RWDD1 | c.653T>G (p.Met218Arg) c.365T>G (p.Met122Arg) | |
6 | g.116593023G>A | CA365417278 | RWDD1 | c.654G>A (p.Met218Ile) c.366G>A (p.Met122Ile) | dbSNP |
6 | g.116593023G>C | CA365417280 | RWDD1 | c.654G>C (p.Met218Ile) c.366G>C (p.Met122Ile) | |
6 | g.116593023G= | CA1657300409 | RWDD1 | c.654G= (p.Met218=) c.366G= (p.Met122=) | |
6 | g.116593023G>T | CA365417282 | RWDD1 | c.654G>T (p.Met218Ile) c.366G>T (p.Met122Ile) | |
6 | g.116593024G>A | CA365417284 | RWDD1 | c.655G>A (p.Asp219Asn) c.367G>A (p.Asp123Asn) | |
6 | g.116593024G>C | CA365417286 | RWDD1 | c.655G>C (p.Asp219His) c.367G>C (p.Asp123His) | |
6 | g.116593024G>T | CA365417287 | RWDD1 | c.655G>T (p.Asp219Tyr) c.367G>T (p.Asp123Tyr) | |
6 | g.116593025A>C | CA365417293 | RWDD1 | c.656A>C (p.Asp219Ala) c.368A>C (p.Asp123Ala) | |
6 | g.116593025A>G | CA365417289 | RWDD1 | c.656A>G (p.Asp219Gly) c.368A>G (p.Asp123Gly) | |
6 | g.116593025A>T | CA365417291 | RWDD1 | c.656A>T (p.Asp219Val) c.368A>T (p.Asp123Val) | |
6 | g.116593026T>A | CA365417294 | RWDD1 | c.657T>A (p.Asp219Glu) c.369T>A (p.Asp123Glu) | |
6 | g.116593026T>C | CA451623120 | RWDD1 | c.657T>C (p.Asp219=) c.369T>C (p.Asp123=) | gnomAD v4 |
6 | g.116593026T>G | CA365417296 | RWDD1 | c.657T>G (p.Asp219Glu) c.369T>G (p.Asp123Glu) | gnomAD v4 |
6 | g.116593027G>A | CA365417299 | RWDD1 | c.658G>A (p.Asp220Asn) c.370G>A (p.Asp124Asn) | |
6 | g.116593027G>C | CA365417300 | RWDD1 | c.658G>C (p.Asp220His) c.370G>C (p.Asp124His) | |
6 | g.116593027G>T | CA365417301 | RWDD1 | c.658G>T (p.Asp220Tyr) c.370G>T (p.Asp124Tyr) | gnomAD v4 |
6 | g.116593028A>C | CA365417303 | RWDD1 | c.659A>C (p.Asp220Ala) c.371A>C (p.Asp124Ala) | |
6 | g.116593028A>G | CA365417307 | RWDD1 | c.659A>G (p.Asp220Gly) c.371A>G (p.Asp124Gly) | |
6 | g.116593028A>T | CA365417305 | RWDD1 | c.659A>T (p.Asp220Val) c.371A>T (p.Asp124Val) | |
6 | g.116593028_116593029insTAAAA | CA2740780469 | RWDD1 | c.659_660insTAAAA (p.Leu221LysfsTer?) c.371_372insTAAAA (p.Leu125LysfsTer?) | |
6 | g.116593029C>A | CA365417309 | RWDD1 | c.660C>A (p.Asp220Glu) c.372C>A (p.Asp124Glu) | |
6 | g.116593029C= | CA1657300410 | RWDD1 | c.660C= (p.Asp220=) c.372C= (p.Asp124=) | |
6 | g.116593029C>G | CA3970657 | RWDD1 | c.660C>G (p.Asp220Glu) c.372C>G (p.Asp124Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116593029C>T | CA3970658 | RWDD1 | c.660C>T (p.Asp220=) c.372C>T (p.Asp124=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116593030T>A | CA365417312 | RWDD1 | c.661T>A (p.Leu221Met) c.373T>A (p.Leu125Met) | |
6 | g.116593030T>C | CA451623126 | RWDD1 | c.661T>C (p.Leu221=) c.373T>C (p.Leu125=) | |
6 | g.116593030T>G | CA365417313 | RWDD1 | c.661T>G (p.Leu221Val) c.373T>G (p.Leu125Val) | |
6 | g.116593031T>A | CA365417316 | RWDD1 | c.662T>A (p.Leu221Ter) c.374T>A (p.Leu125Ter) | |
6 | g.116593031T>C | CA365417318 | RWDD1 | c.662T>C (p.Leu221Ser) c.374T>C (p.Leu125Ser) | |
6 | g.116593031T>G | CA365417320 | RWDD1 | c.662T>G (p.Leu221Trp) c.374T>G (p.Leu125Trp) | gnomAD v4 |
6 | g.116593032G>A | CA451623130 | RWDD1 | c.663G>A (p.Leu221=) c.375G>A (p.Leu125=) | |
6 | g.116593032G>C | CA365417322 | RWDD1 | c.663G>C (p.Leu221Phe) c.375G>C (p.Leu125Phe) | |
6 | g.116593032G>T | CA365417323 | RWDD1 | c.663G>T (p.Leu221Phe) c.375G>T (p.Leu125Phe) | |
6 | g.116593033G>A | CA365417328 | RWDD1 | c.664G>A (p.Glu222Lys) c.376G>A (p.Glu126Lys) | |
6 | g.116593033G>C | CA365417326 | RWDD1 | c.664G>C (p.Glu222Gln) c.376G>C (p.Glu126Gln) | |
6 | g.116593033G>T | CA365417324 | RWDD1 | c.664G>T (p.Glu222Ter) c.376G>T (p.Glu126Ter) | |
6 | g.116593034A>C | CA365417330 | RWDD1 | c.665A>C (p.Glu222Ala) c.377A>C (p.Glu126Ala) | |
6 | g.116593034A>G | CA365417331 | RWDD1 | c.665A>G (p.Glu222Gly) c.377A>G (p.Glu126Gly) | |
6 | g.116593034A>T | CA365417333 | RWDD1 | c.665A>T (p.Glu222Val) c.377A>T (p.Glu126Val) | |
6 | g.116593035G>A | CA451623132 | RWDD1 | c.666G>A (p.Glu222=) c.378G>A (p.Glu126=) | |
6 | g.116593035G>C | CA365417335 | RWDD1 | c.666G>C (p.Glu222Asp) c.378G>C (p.Glu126Asp) | |
6 | g.116593035G>T | CA365417336 | RWDD1 | c.666G>T (p.Glu222Asp) c.378G>T (p.Glu126Asp) | |
6 | g.116593036C>A | CA365417337 | RWDD1 | c.667C>A (p.Leu223Met) c.379C>A (p.Leu127Met) | |
6 | g.116593036C>G | CA365417338 | RWDD1 | c.667C>G (p.Leu223Val) c.379C>G (p.Leu127Val) | |
6 | g.116593036C>T | CA451623134 | RWDD1 | c.667C>T (p.Leu223=) c.379C>T (p.Leu127=) | |
6 | g.116593037T>A | CA365417341 | RWDD1 | c.668T>A (p.Leu223Gln) c.380T>A (p.Leu127Gln) | dbSNP |
6 | g.116593037T>C | CA365417343 | RWDD1 | c.668T>C (p.Leu223Pro) c.380T>C (p.Leu127Pro) | gnomAD v4 |
6 | g.116593037T>G | CA365417344 | RWDD1 | c.668T>G (p.Leu223Arg) c.380T>G (p.Leu127Arg) | |
6 | g.116593037T= | CA1657300411 | RWDD1 | c.668T= (p.Leu223=) c.380T= (p.Leu127=) | |
6 | g.116593038G>A | CA451623138 | RWDD1 | c.669G>A (p.Leu223=) c.381G>A (p.Leu127=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116593038G>C | CA451623137 | RWDD1 | c.669G>C (p.Leu223=) c.381G>C (p.Leu127=) | |
6 | g.116593038G= | CA1657300412 | RWDD1 | c.669G= (p.Leu223=) c.381G= (p.Leu127=) | |
6 | g.116593038G>T | CA451623136 | RWDD1 | c.669G>T (p.Leu223=) c.381G>T (p.Leu127=) | |
6 | g.116593039G>A | CA365417346 | RWDD1 | c.670G>A (p.Glu224Lys) c.382G>A (p.Glu128Lys) | |
6 | g.116593039G>C | CA365417348 | RWDD1 | c.670G>C (p.Glu224Gln) c.382G>C (p.Glu128Gln) | |
6 | g.116593039G>T | CA365417350 | RWDD1 | c.670G>T (p.Glu224Ter) c.382G>T (p.Glu128Ter) | |
6 | g.116593040A= | CA1657300413 | RWDD1 | c.671A= (p.Glu224=) c.383A= (p.Glu128=) | |
6 | g.116593040A>C | CA365417354 | RWDD1 | c.671A>C (p.Glu224Ala) c.383A>C (p.Glu128Ala) | |
6 | g.116593040A>G | CA3970659 | RWDD1 | c.671A>G (p.Glu224Gly) c.383A>G (p.Glu128Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116593040A>T | CA365417352 | RWDD1 | c.671A>T (p.Glu224Val) c.383A>T (p.Glu128Val) | |
6 | g.116593041G>A | CA3970660 | RWDD1 | c.672G>A (p.Glu224=) c.384G>A (p.Glu128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.116593041G>C | CA365417357 | RWDD1 | c.672G>C (p.Glu224Asp) c.384G>C (p.Glu128Asp) | |
6 | g.116593041G= | CA1657300414 | RWDD1 | c.672G= (p.Glu224=) c.384G= (p.Glu128=) | |
6 | g.116593041G>T | CA365417360 | RWDD1 | c.672G>T (p.Glu224Asp) c.384G>T (p.Glu128Asp) | |
6 | g.116593042G>A | CA145912832 | RWDD1 | c.673G>A (p.Asp225Asn) c.385G>A (p.Asp129Asn) | dbSNP |
6 | g.116593042G>C | CA365417363 | RWDD1 | c.673G>C (p.Asp225His) c.385G>C (p.Asp129His) | |
6 | g.116593042G= | CA1657300415 | RWDD1 | c.673G= (p.Asp225=) c.385G= (p.Asp129=) | |
6 | g.116593042G>T | CA365417364 | RWDD1 | c.673G>T (p.Asp225Tyr) c.385G>T (p.Asp129Tyr) | |
6 | g.116593043A>C | CA365417369 | RWDD1 | c.674A>C (p.Asp225Ala) c.386A>C (p.Asp129Ala) | |
6 | g.116593043A>G | CA365417371 | RWDD1 | c.674A>G (p.Asp225Gly) c.386A>G (p.Asp129Gly) | |
6 | g.116593043A>T | CA365417372 | RWDD1 | c.674A>T (p.Asp225Val) c.386A>T (p.Asp129Val) | |
6 | g.116593044T>A | CA365417375 | RWDD1 | c.675T>A (p.Asp225Glu) c.387T>A (p.Asp129Glu) | |
6 | g.116593044T>C | CA451623140 | RWDD1 | c.675T>C (p.Asp225=) c.387T>C (p.Asp129=) | gnomAD v4 |
6 | g.116593044T>G | CA365417378 | RWDD1 | c.675T>G (p.Asp225Glu) c.387T>G (p.Asp129Glu) | |
6 | g.116593045G>A | CA3970661 | RWDD1 | c.676G>A (p.Asp226Asn) c.388G>A (p.Asp130Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116593045G>C | CA365417383 | RWDD1 | c.676G>C (p.Asp226His) c.388G>C (p.Asp130His) | |
6 | g.116593045G= | CA1657300416 | RWDD1 | c.676G= (p.Asp226=) c.388G= (p.Asp130=) | |
6 | g.116593045G>T | CA365417385 | RWDD1 | c.676G>T (p.Asp226Tyr) c.388G>T (p.Asp130Tyr) | |
6 | g.116593046A= | CA1657300417 | RWDD1 | c.677A= (p.Asp226=) c.389A= (p.Asp130=) | |
6 | g.116593046A>C | CA365417391 | RWDD1 | c.677A>C (p.Asp226Ala) c.389A>C (p.Asp130Ala) | |
6 | g.116593046A>G | CA365417392 | RWDD1 | c.677A>G (p.Asp226Gly) c.389A>G (p.Asp130Gly) | |
6 | g.116593046A>T | CA365417389 | RWDD1 | c.677A>T (p.Asp226Val) c.389A>T (p.Asp130Val) | dbSNP gnomAD v4 |
6 | g.116593047T>A | CA365417397 | RWDD1 | c.678T>A (p.Asp226Glu) c.390T>A (p.Asp130Glu) | |
6 | g.116593047T>C | CA451623147 | RWDD1 | c.678T>C (p.Asp226=) c.390T>C (p.Asp130=) | |
6 | g.116593047T>G | CA365417402 | RWDD1 | c.678T>G (p.Asp226Glu) c.390T>G (p.Asp130Glu) | |
6 | g.116593048G>A | CA365417405 | RWDD1 | c.679G>A (p.Glu227Lys) c.391G>A (p.Glu131Lys) | COSMIC |
6 | g.116593048G>C | CA365417407 | RWDD1 | c.679G>C (p.Glu227Gln) c.391G>C (p.Glu131Gln) | |
6 | g.116593048G>T | CA365417410 | RWDD1 | c.679G>T (p.Glu227Ter) c.391G>T (p.Glu131Ter) | |
6 | g.116593049A>C | CA365417412 | RWDD1 | c.680A>C (p.Glu227Ala) c.392A>C (p.Glu131Ala) | |
6 | g.116593049A>G | CA365417414 | RWDD1 | c.680A>G (p.Glu227Gly) c.392A>G (p.Glu131Gly) | |
6 | g.116593049A>T | CA365417418 | RWDD1 | c.680A>T (p.Glu227Val) c.392A>T (p.Glu131Val) | |
6 | g.116593050A= | CA1657300418 | RWDD1 | c.681A= (p.Glu227=) c.393A= (p.Glu131=) | |
6 | g.116593050A>C | CA365417420 | RWDD1 | c.681A>C (p.Glu227Asp) c.393A>C (p.Glu131Asp) | COSMIC |
6 | g.116593050A>G | CA451623151 | RWDD1 | c.681A>G (p.Glu227=) c.393A>G (p.Glu131=) | |
6 | g.116593050A>T | CA12205732 | RWDD1 | c.681A>T (p.Glu227Asp) c.393A>T (p.Glu131Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.116593051G>A | CA365417425 | RWDD1 | c.682G>A (p.Asp228Asn) c.394G>A (p.Asp132Asn) | |
6 | g.116593051G>C | CA365417428 | RWDD1 | c.682G>C (p.Asp228His) c.394G>C (p.Asp132His) | |
6 | g.116593051G>T | CA365417430 | RWDD1 | c.682G>T (p.Asp228Tyr) c.394G>T (p.Asp132Tyr) | gnomAD v4 |
6 | g.116593052A>C | CA365417433 | RWDD1 | c.683A>C (p.Asp228Ala) c.395A>C (p.Asp132Ala) | |
6 | g.116593052A>G | CA365417437 | RWDD1 | c.683A>G (p.Asp228Gly) c.395A>G (p.Asp132Gly) | |
6 | g.116593052A>T | CA365417436 | RWDD1 | c.683A>T (p.Asp228Val) c.395A>T (p.Asp132Val) | |
6 | g.116593053T>A | CA365417440 | RWDD1 | c.684T>A (p.Asp228Glu) c.396T>A (p.Asp132Glu) | |
6 | g.116593053T>C | CA451623158 | RWDD1 | c.684T>C (p.Asp228=) c.396T>C (p.Asp132=) | dbSNP |
6 | g.116593053T>G | CA365417443 | RWDD1 | c.684T>G (p.Asp228Glu) c.396T>G (p.Asp132Glu) | |
6 | g.116593054G>A | CA365417446 | RWDD1 | c.685G>A (p.Asp229Asn) c.397G>A (p.Asp133Asn) | COSMIC |
6 | g.116593054G>C | CA365417449 | RWDD1 | c.685G>C (p.Asp229His) c.397G>C (p.Asp133His) | gnomAD v4 |
6 | g.116593054G>T | CA365417452 | RWDD1 | c.685G>T (p.Asp229Tyr) c.397G>T (p.Asp133Tyr) | |
6 | g.116593055A>C | CA365417455 | RWDD1 | c.686A>C (p.Asp229Ala) c.398A>C (p.Asp133Ala) | |
6 | g.116593055A>G | CA365417458 | RWDD1 | c.686A>G (p.Asp229Gly) c.398A>G (p.Asp133Gly) | |
6 | g.116593055A>T | CA365417460 | RWDD1 | c.686A>T (p.Asp229Val) c.398A>T (p.Asp133Val) | |
6 | g.116593056T>A | CA365417463 | RWDD1 | c.687T>A (p.Asp229Glu) c.399T>A (p.Asp133Glu) | |
6 | g.116593056T>C | CA451623160 | RWDD1 | c.687T>C (p.Asp229=) c.399T>C (p.Asp133=) | |
6 | g.116593056T>G | CA365417464 | RWDD1 | c.687T>G (p.Asp229Glu) c.399T>G (p.Asp133Glu) | |
6 | g.116593057C>A | CA365417473 | RWDD1 | c.688C>A (p.Pro230Thr) c.400C>A (p.Pro134Thr) | COSMIC |
6 | g.116593057C= | CA1657300419 | RWDD1 | c.688C= (p.Pro230=) c.400C= (p.Pro134=) | |
6 | g.116593057C>G | CA365417469 | RWDD1 | c.688C>G (p.Pro230Ala) c.400C>G (p.Pro134Ala) | dbSNP gnomAD v4 |
6 | g.116593057C>T | CA365417467 | RWDD1 | c.688C>T (p.Pro230Ser) c.400C>T (p.Pro134Ser) | |
6 | g.116593058C>A | CA365417476 | RWDD1 | c.689C>A (p.Pro230Gln) c.401C>A (p.Pro134Gln) | COSMIC |
6 | g.116593058C= | CA1657300420 | RWDD1 | c.689C= (p.Pro230=) c.401C= (p.Pro134=) | |
6 | g.116593058C>G | CA365417482 | RWDD1 | c.689C>G (p.Pro230Arg) c.401C>G (p.Pro134Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116593058C>T | CA365417477 | RWDD1 | c.689C>T (p.Pro230Leu) c.401C>T (p.Pro134Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.116593059A>C | CA451623167 | RWDD1 | c.690A>C (p.Pro230=) c.402A>C (p.Pro134=) | |
6 | g.116593059A>G | CA451623168 | RWDD1 | c.690A>G (p.Pro230=) c.402A>G (p.Pro134=) | gnomAD v4 |
6 | g.116593059A>T | CA451623169 | RWDD1 | c.690A>T (p.Pro230=) c.402A>T (p.Pro134=) | |
6 | g.116593060G>A | CA365417485 | RWDD1 | c.691G>A (p.Asp231Asn) c.403G>A (p.Asp135Asn) | ClinVar dbSNP gnomAD v4 |
6 | g.116593060G>C | CA365417488 | RWDD1 | c.691G>C (p.Asp231His) c.403G>C (p.Asp135His) | |
6 | g.116593060G= | CA1657300421 | RWDD1 | c.691G= (p.Asp231=) c.403G= (p.Asp135=) | |
6 | g.116593060G>T | CA365417487 | RWDD1 | c.691G>T (p.Asp231Tyr) c.403G>T (p.Asp135Tyr) | gnomAD v4 |
6 | g.116593061A>C | CA365417491 | RWDD1 | c.692A>C (p.Asp231Ala) c.404A>C (p.Asp135Ala) | |
6 | g.116593061A>G | CA365417495 | RWDD1 | c.692A>G (p.Asp231Gly) c.404A>G (p.Asp135Gly) | gnomAD v4 |
6 | g.116593061A>T | CA365417493 | RWDD1 | c.692A>T (p.Asp231Val) c.404A>T (p.Asp135Val) | |
6 | g.116593062C>A | CA365417497 | RWDD1 | c.693C>A (p.Asp231Glu) c.405C>A (p.Asp135Glu) | |
6 | g.116593062C>G | CA365417498 | RWDD1 | c.693C>G (p.Asp231Glu) c.405C>G (p.Asp135Glu) | |
6 | g.116593062C>T | CA451623171 | RWDD1 | c.693C>T (p.Asp231=) c.405C>T (p.Asp135=) | |
6 | g.116593063T>A | CA365417499 | RWDD1 | c.694T>A (p.Tyr232Asn) c.406T>A (p.Tyr136Asn) | |
6 | g.116593063T>C | CA365417500 | RWDD1 | c.694T>C (p.Tyr232His) c.406T>C (p.Tyr136His) | gnomAD v4 |
6 | g.116593063T>G | CA365417501 | RWDD1 | c.694T>G (p.Tyr232Asp) c.406T>G (p.Tyr136Asp) | |
6 | g.116593064A>C | CA365417505 | RWDD1 | c.695A>C (p.Tyr232Ser) c.407A>C (p.Tyr136Ser) | |
6 | g.116593064A>G | CA365417503 | RWDD1 | c.695A>G (p.Tyr232Cys) c.407A>G (p.Tyr136Cys) | gnomAD v4 |
6 | g.116593064A>T | CA365417502 | RWDD1 | c.695A>T (p.Tyr232Phe) c.407A>T (p.Tyr136Phe) | |
6 | g.116593065T>A | CA365417507 | RWDD1 | c.696T>A (p.Tyr232Ter) c.408T>A (p.Tyr136Ter) | |
6 | g.116593065T>C | CA3970662 | RWDD1 | c.696T>C (p.Tyr232=) c.408T>C (p.Tyr136=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.116593065T>G | CA365417509 | RWDD1 | c.696T>G (p.Tyr232Ter) c.408T>G (p.Tyr136Ter) | |
6 | g.116593065T= | CA1657300422 | RWDD1 | c.696T= (p.Tyr232=) c.408T= (p.Tyr136=) | |
6 | g.116593066A>C | CA365417511 | RWDD1 | c.697A>C (p.Asn233His) c.409A>C (p.Asn137His) | |
6 | g.116593066A>G | CA365417514 | RWDD1 | c.697A>G (p.Asn233Asp) c.409A>G (p.Asn137Asp) | |
6 | g.116593066A>T | CA365417515 | RWDD1 | c.697A>T (p.Asn233Tyr) c.409A>T (p.Asn137Tyr) | |
6 | g.116593067A>C | CA365417520 | RWDD1 | c.698A>C (p.Asn233Thr) c.410A>C (p.Asn137Thr) | |
6 | g.116593067A>G | CA365417525 | RWDD1 | c.698A>G (p.Asn233Ser) c.410A>G (p.Asn137Ser) | |
6 | g.116593067A>T | CA365417522 | RWDD1 | c.698A>T (p.Asn233Ile) c.410A>T (p.Asn137Ile) | |
6 | g.116593068T>A | CA365417527 | RWDD1 | c.699T>A (p.Asn233Lys) c.411T>A (p.Asn137Lys) | |
6 | g.116593068T>C | CA451623172 | RWDD1 | c.699T>C (p.Asn233=) c.411T>C (p.Asn137=) | |
6 | g.116593068T>G | CA365417528 | RWDD1 | c.699T>G (p.Asn233Lys) c.411T>G (p.Asn137Lys) | |
6 | g.116593069C>A | CA365417531 | RWDD1 | c.700C>A (p.Pro234Thr) c.412C>A (p.Pro138Thr) | |
6 | g.116593069C>G | CA365417534 | RWDD1 | c.700C>G (p.Pro234Ala) c.412C>G (p.Pro138Ala) | |
6 | g.116593069C>T | CA365417537 | RWDD1 | c.700C>T (p.Pro234Ser) c.412C>T (p.Pro138Ser) | COSMIC |
6 | g.116593070C>A | CA365417541 | RWDD1 | c.701C>A (p.Pro234His) c.413C>A (p.Pro138His) | |
6 | g.116593070C= | CA1657300423 | RWDD1 | c.701C= (p.Pro234=) c.413C= (p.Pro138=) | |
6 | g.116593070C>G | CA365417543 | RWDD1 | c.701C>G (p.Pro234Arg) c.413C>G (p.Pro138Arg) | |
6 | g.116593070C>T | CA365417546 | RWDD1 | c.701C>T (p.Pro234Leu) c.413C>T (p.Pro138Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.116593071T>A | CA451623173 | RWDD1 | c.702T>A (p.Pro234=) c.414T>A (p.Pro138=) | |
6 | g.116593071T>C | CA451623175 | RWDD1 | c.702T>C (p.Pro234=) c.414T>C (p.Pro138=) | |
6 | g.116593071T>G | CA451623174 | RWDD1 | c.702T>G (p.Pro234=) c.414T>G (p.Pro138=) | |
6 | g.116593072G>A | CA365417549 | RWDD1 | c.703G>A (p.Ala235Thr) c.415G>A (p.Ala139Thr) | |
6 | g.116593072G>C | CA365417552 | RWDD1 | c.703G>C (p.Ala235Pro) c.415G>C (p.Ala139Pro) | |
6 | g.116593072G>T | CA365417555 | RWDD1 | c.703G>T (p.Ala235Ser) c.415G>T (p.Ala139Ser) | |
6 | g.116593073C>A | CA365417558 | RWDD1 | c.704C>A (p.Ala235Asp) c.416C>A (p.Ala139Asp) | |
6 | g.116593073C>G | CA365417562 | RWDD1 | c.704C>G (p.Ala235Gly) c.416C>G (p.Ala139Gly) | |
6 | g.116593073C>T | CA365417560 | RWDD1 | c.704C>T (p.Ala235Val) c.416C>T (p.Ala139Val) | |
6 | g.116593074T>A | CA451623176 | RWDD1 | c.705T>A (p.Ala235=) c.417T>A (p.Ala139=) | |
6 | g.116593074T>C | CA451623177 | RWDD1 | c.705T>C (p.Ala235=) c.417T>C (p.Ala139=) | |
6 | g.116593074T>G | CA451623178 | RWDD1 | c.705T>G (p.Ala235=) c.417T>G (p.Ala139=) | |
6 | g.116593075G>A | CA365417565 | RWDD1 | c.706G>A (p.Asp236Asn) c.418G>A (p.Asp140Asn) | |
6 | g.116593075G>C | CA365417567 | RWDD1 | c.706G>C (p.Asp236His) c.418G>C (p.Asp140His) | |
6 | g.116593075G>T | CA365417569 | RWDD1 | c.706G>T (p.Asp236Tyr) c.418G>T (p.Asp140Tyr) | gnomAD v4 |
6 | g.116593076A= | CA1657300424 | RWDD1 | c.707A= (p.Asp236=) c.419A= (p.Asp140=) | |
6 | g.116593076A>C | CA145912844 | RWDD1 | c.707A>C (p.Asp236Ala) c.419A>C (p.Asp140Ala) | dbSNP |
6 | g.116593076A>G | CA365417576 | RWDD1 | c.707A>G (p.Asp236Gly) c.419A>G (p.Asp140Gly) | |
6 | g.116593076A>T | CA365417580 | RWDD1 | c.707A>T (p.Asp236Val) c.419A>T (p.Asp140Val) |