Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31529226C>A | CA2658498096 | SRD5A2 | c.698+81G>T (n.698+81G>T) c.476+81G>T (n.476+81G>T) c.443+81G>T (n.443+81G>T) | gnomAD v4 |
2 | g.31529228A= | CA1242197322 | SRD5A2 | c.698+79T= (n.698+79T=) c.476+79T= (n.476+79T=) c.443+79T= (n.443+79T=) | |
2 | g.31529228A>G | CA531711313 | SRD5A2 | c.698+79T>C (n.698+79T>C) c.476+79T>C (n.476+79T>C) c.443+79T>C (n.443+79T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529230C>G | CA2658498097 | SRD5A2 | c.698+77G>C (n.698+77G>C) c.476+77G>C (n.476+77G>C) c.443+77G>C (n.443+77G>C) | gnomAD v4 |
2 | g.31529233C>T | CA2658498098 | SRD5A2 | c.698+74G>A (n.698+74G>A) c.476+74G>A (n.476+74G>A) c.443+74G>A (n.443+74G>A) | gnomAD v4 |
2 | g.31529234C>T | CA2658498099 | SRD5A2 | c.698+73G>A (n.698+73G>A) c.476+73G>A (n.476+73G>A) c.443+73G>A (n.443+73G>A) | gnomAD v4 |
2 | g.31529234_31529235delinsCT | CA1242197323 | SRD5A2 | c.698+72_698+73delinsAG (n.698+72_698+73delinsAG) c.476+72_476+73delinsAG (n.476+72_476+73delinsAG) c.443+72_443+73delinsAG (n.443+72_443+73delinsAG) | |
2 | g.31529235del | CA1028962460 | SRD5A2 | c.698+72del (n.698+72del) c.476+72del (n.476+72del) c.443+72del (n.443+72del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529235T>C | CA45136301 | SRD5A2 | c.698+72A>G (n.698+72A>G) c.476+72A>G (n.476+72A>G) c.443+72A>G (n.443+72A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31529235T= | CA1242197324 | SRD5A2 | c.698+72A= (n.698+72A=) c.476+72A= (n.476+72A=) c.443+72A= (n.443+72A=) | |
2 | g.31529239C>A | CA45136302 | SRD5A2 | c.698+68G>T (n.698+68G>T) c.476+68G>T (n.476+68G>T) c.443+68G>T (n.443+68G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529239C= | CA1242197325 | SRD5A2 | c.698+68G= (n.698+68G=) c.476+68G= (n.476+68G=) c.443+68G= (n.443+68G=) | |
2 | g.31529239C>T | CA45136303 | SRD5A2 | c.698+68G>A (n.698+68G>A) c.476+68G>A (n.476+68G>A) c.443+68G>A (n.443+68G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529240G>A | CA45136304 | SRD5A2 | c.698+67C>T (n.698+67C>T) c.476+67C>T (n.476+67C>T) c.443+67C>T (n.443+67C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529240G>C | CA2581760967 | SRD5A2 | c.698+67C>G (n.698+67C>G) c.476+67C>G (n.476+67C>G) c.443+67C>G (n.443+67C>G) | |
2 | g.31529240G= | CA1242197326 | SRD5A2 | c.698+67C= (n.698+67C=) c.476+67C= (n.476+67C=) c.443+67C= (n.443+67C=) | |
2 | g.31529240G>T | CA2576929386 | SRD5A2 | c.698+67C>A (n.698+67C>A) c.476+67C>A (n.476+67C>A) c.443+67C>A (n.443+67C>A) | |
2 | g.31529241G>A | CA45136305 | SRD5A2 | c.698+66C>T (n.698+66C>T) c.476+66C>T (n.476+66C>T) c.443+66C>T (n.443+66C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529241G= | CA1242197327 | SRD5A2 | c.698+66C= (n.698+66C=) c.476+66C= (n.476+66C=) c.443+66C= (n.443+66C=) | |
2 | g.31529241G>T | CA45136306 | SRD5A2 | c.698+66C>A (n.698+66C>A) c.476+66C>A (n.476+66C>A) c.443+66C>A (n.443+66C>A) | dbSNP gnomAD v4 |
2 | g.31529242G>A | CA2658498100 | SRD5A2 | c.698+65C>T (n.698+65C>T) c.476+65C>T (n.476+65C>T) c.443+65C>T (n.443+65C>T) | gnomAD v4 |
2 | g.31529242G>C | CA767758707 | SRD5A2 | c.698+65C>G (n.698+65C>G) c.476+65C>G (n.476+65C>G) c.443+65C>G (n.443+65C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529242G= | CA1242197328 | SRD5A2 | c.698+65C= (n.698+65C=) c.476+65C= (n.476+65C=) c.443+65C= (n.443+65C=) | |
2 | g.31529242G>T | CA2658498101 | SRD5A2 | c.698+65C>A (n.698+65C>A) c.476+65C>A (n.476+65C>A) c.443+65C>A (n.443+65C>A) | gnomAD v4 |
2 | g.31529243T>C | CA2658498102 | SRD5A2 | c.698+64A>G (n.698+64A>G) c.476+64A>G (n.476+64A>G) c.443+64A>G (n.443+64A>G) | gnomAD v4 |
2 | g.31529246A>T | CA2576929391 | SRD5A2 | c.698+61T>A (n.698+61T>A) c.476+61T>A (n.476+61T>A) c.443+61T>A (n.443+61T>A) | |
2 | g.31529249G>T | CA2658498103 | SRD5A2 | c.698+58C>A (n.698+58C>A) c.476+58C>A (n.476+58C>A) c.443+58C>A (n.443+58C>A) | gnomAD v4 |
2 | g.31529250C>A | CA2658498104 | SRD5A2 | c.698+57G>T (n.698+57G>T) c.476+57G>T (n.476+57G>T) c.443+57G>T (n.443+57G>T) | gnomAD v4 |
2 | g.31529251del | CA2576929393 | SRD5A2 | c.698+57del (n.698+57del) c.476+57del (n.476+57del) c.443+57del (n.443+57del) | |
2 | g.31529253G>A | CA2576929394 | SRD5A2 | c.698+54C>T (n.698+54C>T) c.476+54C>T (n.476+54C>T) c.443+54C>T (n.443+54C>T) | |
2 | g.31529254T>C | CA1242197330 | SRD5A2 | c.698+53A>G (n.698+53A>G) c.476+53A>G (n.476+53A>G) c.443+53A>G (n.443+53A>G) | dbSNP |
2 | g.31529254T= | CA1242197329 | SRD5A2 | c.698+53A= (n.698+53A=) c.476+53A= (n.476+53A=) c.443+53A= (n.443+53A=) | |
2 | g.31529255T>C | CA2658498105 | SRD5A2 | c.698+52A>G (n.698+52A>G) c.476+52A>G (n.476+52A>G) c.443+52A>G (n.443+52A>G) | gnomAD v4 |
2 | g.31529255T>G | CA2576929397 | SRD5A2 | c.698+52A>C (n.698+52A>C) c.476+52A>C (n.476+52A>C) c.443+52A>C (n.443+52A>C) | gnomAD v4 |
2 | g.31529256T>C | CA767758708 | SRD5A2 | c.698+51A>G (n.698+51A>G) c.476+51A>G (n.476+51A>G) c.443+51A>G (n.443+51A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529256T= | CA1242197331 | SRD5A2 | c.698+51A= (n.698+51A=) c.476+51A= (n.476+51A=) c.443+51A= (n.443+51A=) | |
2 | g.31529257G>A | CA531711319 | SRD5A2 | c.698+50C>T (n.698+50C>T) c.476+50C>T (n.476+50C>T) c.443+50C>T (n.443+50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529257G= | CA1242197332 | SRD5A2 | c.698+50C= (n.698+50C=) c.476+50C= (n.476+50C=) c.443+50C= (n.443+50C=) | |
2 | g.31529258del | CA2576929398 | SRD5A2 | c.698+50del (n.698+50del) c.476+50del (n.476+50del) c.443+50del (n.443+50del) | gnomAD v4 |
2 | g.31529258_31529260del | CA2658498106 | SRD5A2 | c.698+48_698+50del (n.698+48_698+50del) c.476+48_476+50del (n.476+48_476+50del) c.443+48_443+50del (n.443+48_443+50del) | dbSNP gnomAD v4 |
2 | g.31529258G>A | CA1599855 | SRD5A2 | c.698+49C>T (n.698+49C>T) c.476+49C>T (n.476+49C>T) c.443+49C>T (n.443+49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529258G= | CA1242197334 | SRD5A2 | c.698+49C= (n.698+49C=) c.476+49C= (n.476+49C=) c.443+49C= (n.443+49C=) | |
2 | g.31529258_31529261delinsGAGA | CA1242197333 | SRD5A2 | c.698+46_698+49delinsTCTC (n.698+46_698+49delinsTCTC) c.476+46_476+49delinsTCTC (n.476+46_476+49delinsTCTC) c.443+46_443+49delinsTCTC (n.443+46_443+49delinsTCTC) | |
2 | g.31529266_31529268del | CA1599856 | SRD5A2 | c.698+46_698+48del (n.698+46_698+48del) c.476+46_476+48del (n.476+46_476+48del) c.443+46_443+48del (n.443+46_443+48del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.31529260_31529261delinsGA | CA1242197335 | SRD5A2 | c.698+46_698+47delinsTC (n.698+46_698+47delinsTC) c.476+46_476+47delinsTC (n.476+46_476+47delinsTC) c.443+46_443+47delinsTC (n.443+46_443+47delinsTC) | |
2 | g.31529262del | CA1242197336 | SRD5A2 | c.698+46del (n.698+46del) c.476+46del (n.476+46del) c.443+46del (n.443+46del) | dbSNP |
2 | g.31529262A= | CA1242197337 | SRD5A2 | c.698+45T= (n.698+45T=) c.476+45T= (n.476+45T=) c.443+45T= (n.443+45T=) | |
2 | g.31529262A>G | CA1242197338 | SRD5A2 | c.698+45T>C (n.698+45T>C) c.476+45T>C (n.476+45T>C) c.443+45T>C (n.443+45T>C) | dbSNP gnomAD v4 |
2 | g.31529263G= | CA1242197340 | SRD5A2 | c.698+44C= (n.698+44C=) c.476+44C= (n.476+44C=) c.443+44C= (n.443+44C=) | |
2 | g.31529263G>T | CA531711326 | SRD5A2 | c.698+44C>A (n.698+44C>A) c.476+44C>A (n.476+44C>A) c.443+44C>A (n.443+44C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529263_31529267delinsGAAGA | CA1242197339 | SRD5A2 | c.698+40_698+44delinsTCTTC (n.698+40_698+44delinsTCTTC) c.476+40_476+44delinsTCTTC (n.476+40_476+44delinsTCTTC) c.443+40_443+44delinsTCTTC (n.443+40_443+44delinsTCTTC) | |
2 | g.31529267_31529270del | CA1599857 | SRD5A2 | c.698+40_698+43del (n.698+40_698+43del) c.476+40_476+43del (n.476+40_476+43del) c.443+40_443+43del (n.443+40_443+43del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529265A>T | CA2658498107 | SRD5A2 | c.698+42T>A (n.698+42T>A) c.476+42T>A (n.476+42T>A) c.443+42T>A (n.443+42T>A) | gnomAD v4 |
2 | g.31529269A>C | CA2658498108 | SRD5A2 | c.698+38T>G (n.698+38T>G) c.476+38T>G (n.476+38T>G) c.443+38T>G (n.443+38T>G) | gnomAD v4 |
2 | g.31529270G>A | CA45136307 | SRD5A2 | c.698+37C>T (n.698+37C>T) c.476+37C>T (n.476+37C>T) c.443+37C>T (n.443+37C>T) | dbSNP |
2 | g.31529270G>C | CA2658498109 | SRD5A2 | c.698+37C>G (n.698+37C>G) c.476+37C>G (n.476+37C>G) c.443+37C>G (n.443+37C>G) | gnomAD v4 |
2 | g.31529270G= | CA1242197342 | SRD5A2 | c.698+37C= (n.698+37C=) c.476+37C= (n.476+37C=) c.443+37C= (n.443+37C=) | |
2 | g.31529270G>T | CA1242197341 | SRD5A2 | c.698+37C>A (n.698+37C>A) c.476+37C>A (n.476+37C>A) c.443+37C>A (n.443+37C>A) | dbSNP |
2 | g.31529271C>A | CA2698934689 | SRD5A2 | c.698+36G>T (n.698+36G>T) c.476+36G>T (n.476+36G>T) c.443+36G>T (n.443+36G>T) | dbSNP |
2 | g.31529274C>A | CA1599859 | SRD5A2 | c.698+33G>T (n.698+33G>T) c.476+33G>T (n.476+33G>T) c.443+33G>T (n.443+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31529274C= | CA1242197343 | SRD5A2 | c.698+33G= (n.698+33G=) c.476+33G= (n.476+33G=) c.443+33G= (n.443+33G=) | |
2 | g.31529274C>G | CA2833294204 | SRD5A2 | c.698+33G>C (n.698+33G>C) c.476+33G>C (n.476+33G>C) c.443+33G>C (n.443+33G>C) | |
2 | g.31529274C>T | CA1599858 | SRD5A2 | c.698+33G>A (n.698+33G>A) c.476+33G>A (n.476+33G>A) c.443+33G>A (n.443+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529275G>A | CA1599860 | SRD5A2 | c.698+32C>T (n.698+32C>T) c.476+32C>T (n.476+32C>T) c.443+32C>T (n.443+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529275G= | CA1242197344 | SRD5A2 | c.698+32C= (n.698+32C=) c.476+32C= (n.476+32C=) c.443+32C= (n.443+32C=) | |
2 | g.31529275G>T | CA45136308 | SRD5A2 | c.698+32C>A (n.698+32C>A) c.476+32C>A (n.476+32C>A) c.443+32C>A (n.443+32C>A) | dbSNP gnomAD v4 |
2 | g.31529276T>A | CA2658498110 | SRD5A2 | c.698+31A>T (n.698+31A>T) c.476+31A>T (n.476+31A>T) c.443+31A>T (n.443+31A>T) | gnomAD v4 |
2 | g.31529276T>C | CA1242197346 | SRD5A2 | c.698+31A>G (n.698+31A>G) c.476+31A>G (n.476+31A>G) c.443+31A>G (n.443+31A>G) | dbSNP |
2 | g.31529276T= | CA1242197345 | SRD5A2 | c.698+31A= (n.698+31A=) c.476+31A= (n.476+31A=) c.443+31A= (n.443+31A=) | |
2 | g.31529277G>A | CA1599861 | SRD5A2 | c.698+30C>T (n.698+30C>T) c.476+30C>T (n.476+30C>T) c.443+30C>T (n.443+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529277G= | CA1242197347 | SRD5A2 | c.698+30C= (n.698+30C=) c.476+30C= (n.476+30C=) c.443+30C= (n.443+30C=) | |
2 | g.31529279A= | CA1242197348 | SRD5A2 | c.698+28T= (n.698+28T=) c.476+28T= (n.476+28T=) c.443+28T= (n.443+28T=) | |
2 | g.31529279A>C | CA1242197349 | SRD5A2 | c.698+28T>G (n.698+28T>G) c.476+28T>G (n.476+28T>G) c.443+28T>G (n.443+28T>G) | dbSNP |
2 | g.31529280T>A | CA2576929405 | SRD5A2 | c.698+27A>T (n.698+27A>T) c.476+27A>T (n.476+27A>T) c.443+27A>T (n.443+27A>T) | |
2 | g.31529282C>T | CA2576929406 | SRD5A2 | c.698+25G>A (n.698+25G>A) c.476+25G>A (n.476+25G>A) c.443+25G>A (n.443+25G>A) | dbSNP |
2 | g.31529284G>A | CA767758753 | SRD5A2 | c.698+23C>T (n.698+23C>T) c.476+23C>T (n.476+23C>T) c.443+23C>T (n.443+23C>T) | dbSNP |
2 | g.31529284G= | CA1242197350 | SRD5A2 | c.698+23C= (n.698+23C=) c.476+23C= (n.476+23C=) c.443+23C= (n.443+23C=) | |
2 | g.31529285C>A | CA2658498111 | SRD5A2 | c.698+22G>T (n.698+22G>T) c.476+22G>T (n.476+22G>T) c.443+22G>T (n.443+22G>T) | gnomAD v4 |
2 | g.31529285C>T | CA2525793163 | SRD5A2 | c.698+22G>A (n.698+22G>A) c.476+22G>A (n.476+22G>A) c.443+22G>A (n.443+22G>A) | |
2 | g.31529286C>A | CA2658498112 | SRD5A2 | c.698+21G>T (n.698+21G>T) c.476+21G>T (n.476+21G>T) c.443+21G>T (n.443+21G>T) | gnomAD v4 |
2 | g.31529286C= | CA1242197351 | SRD5A2 | c.698+21G= (n.698+21G=) c.476+21G= (n.476+21G=) c.443+21G= (n.443+21G=) | |
2 | g.31529286C>T | CA531711348 | SRD5A2 | c.698+21G>A (n.698+21G>A) c.476+21G>A (n.476+21G>A) c.443+21G>A (n.443+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529287G>A | CA1599862 | SRD5A2 | c.698+20C>T (n.698+20C>T) c.476+20C>T (n.476+20C>T) c.443+20C>T (n.443+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529287G= | CA1242197352 | SRD5A2 | c.698+20C= (n.698+20C=) c.476+20C= (n.476+20C=) c.443+20C= (n.443+20C=) | |
2 | g.31529288C>T | CA646590637 | SRD5A2 | c.698+19G>A (n.698+19G>A) c.476+19G>A (n.476+19G>A) c.443+19G>A (n.443+19G>A) | COSMIC |
2 | g.31529289T>C | CA767758758 | SRD5A2 | c.698+18A>G (n.698+18A>G) c.476+18A>G (n.476+18A>G) c.443+18A>G (n.443+18A>G) | dbSNP |
2 | g.31529289T>G | CA2698798713 | SRD5A2 | c.698+18A>C (n.698+18A>C) c.476+18A>C (n.476+18A>C) c.443+18A>C (n.443+18A>C) | dbSNP |
2 | g.31529289T= | CA1242197353 | SRD5A2 | c.698+18A= (n.698+18A=) c.476+18A= (n.476+18A=) c.443+18A= (n.443+18A=) | |
2 | g.31529291T>C | CA531711354 | SRD5A2 | c.698+16A>G (n.698+16A>G) c.476+16A>G (n.476+16A>G) c.443+16A>G (n.443+16A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529291T= | CA1242197354 | SRD5A2 | c.698+16A= (n.698+16A=) c.476+16A= (n.476+16A=) c.443+16A= (n.443+16A=) | |
2 | g.31529294T>C | CA45136309 | SRD5A2 | c.698+13A>G (n.698+13A>G) c.476+13A>G (n.476+13A>G) c.443+13A>G (n.443+13A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31529294T= | CA1242197355 | SRD5A2 | c.698+13A= (n.698+13A=) c.476+13A= (n.476+13A=) c.443+13A= (n.443+13A=) | |
2 | g.31529295T>G | CA2576929409 | SRD5A2 | c.698+12A>C (n.698+12A>C) c.476+12A>C (n.476+12A>C) c.443+12A>C (n.443+12A>C) | |
2 | g.31529296G= | CA1242197356 | SRD5A2 | c.698+11C= (n.698+11C=) c.476+11C= (n.476+11C=) c.443+11C= (n.443+11C=) | |
2 | g.31529296G>T | CA2658498114 | SRD5A2 | c.698+11C>A (n.698+11C>A) c.476+11C>A (n.476+11C>A) c.443+11C>A (n.443+11C>A) | gnomAD v4 |
2 | g.31529301dup | CA1599863 | SRD5A2 | c.698+10dup (n.698+10dup) c.476+10dup (n.476+10dup) c.443+10dup (n.443+10dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529298A= | CA1242197357 | SRD5A2 | c.698+9T= (n.698+9T=) c.476+9T= (n.476+9T=) c.443+9T= (n.443+9T=) | |
2 | g.31529298A>G | CA2658498115 | SRD5A2 | c.698+9T>C (n.698+9T>C) c.476+9T>C (n.476+9T>C) c.443+9T>C (n.443+9T>C) | gnomAD v4 |
2 | g.31529298A>T | CA531711358 | SRD5A2 | c.698+9T>A (n.698+9T>A) c.476+9T>A (n.476+9T>A) c.443+9T>A (n.443+9T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529300A= | CA1242197358 | SRD5A2 | c.698+7T= (n.698+7T=) c.476+7T= (n.476+7T=) c.443+7T= (n.443+7T=) | |
2 | g.31529300A>C | CA1599864 | SRD5A2 | c.698+7T>G (n.698+7T>G) c.476+7T>G (n.476+7T>G) c.443+7T>G (n.443+7T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529301A>G | CA2576929411 | SRD5A2 | c.698+6T>C (n.698+6T>C) c.476+6T>C (n.476+6T>C) c.443+6T>C (n.443+6T>C) | gnomAD v4 |
2 | g.31529301_31529302delinsAT | CA1242197359 | SRD5A2 | c.698+5_698+6delinsAT (n.698+5_698+6delinsAT) c.476+5_476+6delinsAT (n.476+5_476+6delinsAT) c.443+5_443+6delinsAT (n.443+5_443+6delinsAT) | |
2 | g.31529302T>A | CA2658498116 | SRD5A2 | c.698+5A>T (n.698+5A>T) c.476+5A>T (n.476+5A>T) c.443+5A>T (n.443+5A>T) | gnomAD v4 |
2 | g.31529302T>C | CA2658498117 | SRD5A2 | c.698+5A>G (n.698+5A>G) c.476+5A>G (n.476+5A>G) c.443+5A>G (n.443+5A>G) | gnomAD v4 |
2 | g.31529304del | CA531711365 | SRD5A2 | c.698+5del (n.698+5del) c.476+5del (n.476+5del) c.443+5del (n.443+5del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529303T>G | CA531711369 | SRD5A2 | c.698+4A>C (n.698+4A>C) c.476+4A>C (n.476+4A>C) c.443+4A>C (n.443+4A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529303T= | CA1242197360 | SRD5A2 | c.698+4A= (n.698+4A=) c.476+4A= (n.476+4A=) c.443+4A= (n.443+4A=) | |
2 | g.31529305A>C | CA346597836 | SRD5A2 | c.698+2T>G (n.698+2T>G) c.476+2T>G (n.476+2T>G) c.443+2T>G (n.443+2T>G) | |
2 | g.31529305A>G | CA346597837 | SRD5A2 | c.698+2T>C (n.698+2T>C) c.476+2T>C (n.476+2T>C) c.443+2T>C (n.443+2T>C) | gnomAD v4 |
2 | g.31529305A>T | CA346597838 | SRD5A2 | c.698+2T>A (n.698+2T>A) c.476+2T>A (n.476+2T>A) c.443+2T>A (n.443+2T>A) | |
2 | g.31529306C>A | CA1599865 | SRD5A2 | c.698+1G>T (n.698+1G>T) c.476+1G>T (n.476+1G>T) c.443+1G>T (n.443+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529306C= | CA1242197361 | SRD5A2 | c.698+1G= (n.698+1G=) c.476+1G= (n.476+1G=) c.443+1G= (n.443+1G=) | |
2 | g.31529306C>G | CA346597839 | SRD5A2 | c.698+1G>C (n.698+1G>C) c.476+1G>C (n.476+1G>C) c.443+1G>C (n.443+1G>C) | |
2 | g.31529306C>T | CA346597840 | SRD5A2 | c.698+1G>A (n.698+1G>A) c.476+1G>A (n.476+1G>A) c.443+1G>A (n.443+1G>A) | dbSNP |
2 | g.31529307C>A | CA346597841 | SRD5A2 | c.698G>T (p.Arg233Met) c.476G>T (p.Arg159Met) c.443G>T (p.Arg148Met) | COSMIC |
2 | g.31529307C>G | CA346597843 | SRD5A2 | c.698G>C (p.Arg233Thr) c.476G>C (p.Arg159Thr) c.443G>C (p.Arg148Thr) | |
2 | g.31529307C>T | CA346597842 | SRD5A2 | c.698G>A (p.Arg233Lys) c.476G>A (p.Arg159Lys) c.443G>A (p.Arg148Lys) | ClinVar gnomAD v4 |
2 | g.31529308T>A | CA346597844 | SRD5A2 | c.697A>T (p.Arg233Trp) c.475A>T (p.Arg159Trp) c.442A>T (p.Arg148Trp) | |
2 | g.31529308T>C | CA1599866 | SRD5A2 | c.697A>G (p.Arg233Gly) c.475A>G (p.Arg159Gly) c.442A>G (p.Arg148Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529308T>G | CA425567393 | SRD5A2 | c.697A>C (p.Arg233=) c.475A>C (p.Arg159=) c.442A>C (p.Arg148=) | |
2 | g.31529308T= | CA1242197362 | SRD5A2 | c.697A= (p.Arg233=) c.475A= (p.Arg159=) c.442A= (p.Arg148=) | |
2 | g.31529309A= | CA1242197363 | SRD5A2 | c.696T= (p.His232=) c.474T= (p.His158=) c.441T= (p.His147=) | |
2 | g.31529309A>C | CA346597845 | SRD5A2 | c.696T>G (p.His232Gln) c.474T>G (p.His158Gln) c.441T>G (p.His147Gln) | |
2 | g.31529309A>G | CA224920 | SRD5A2 | c.696T>C (p.His232=) c.474T>C (p.His158=) c.441T>C (p.His147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529309A>T | CA346597846 | SRD5A2 | c.696T>A (p.His232Gln) c.474T>A (p.His158Gln) c.441T>A (p.His147Gln) | |
2 | g.31529310T>A | CA1599867 | SRD5A2 | c.695A>T (p.His232Leu) c.473A>T (p.His158Leu) c.440A>T (p.His147Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529310T>C | CA346597847 | SRD5A2 | c.695A>G (p.His232Arg) c.473A>G (p.His158Arg) c.440A>G (p.His147Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529310T>G | CA346597848 | SRD5A2 | c.695A>C (p.His232Pro) c.473A>C (p.His158Pro) c.440A>C (p.His147Pro) | gnomAD v4 |
2 | g.31529310T= | CA1242197364 | SRD5A2 | c.695A= (p.His232=) c.473A= (p.His158=) c.440A= (p.His147=) | |
2 | g.31529311G>A | CA346597849 | SRD5A2 | c.694C>T (p.His232Tyr) c.472C>T (p.His158Tyr) c.439C>T (p.His147Tyr) | |
2 | g.31529311G>C | CA346597850 | SRD5A2 | c.694C>G (p.His232Asp) c.472C>G (p.His158Asp) c.439C>G (p.His147Asp) | dbSNP |
2 | g.31529311G= | CA1242197365 | SRD5A2 | c.694C= (p.His232=) c.472C= (p.His158=) c.439C= (p.His147=) | |
2 | g.31529311G>T | CA346597851 | SRD5A2 | c.694C>A (p.His232Asn) c.472C>A (p.His158Asn) c.439C>A (p.His147Asn) | |
2 | g.31529312del | CA2698934705 | SRD5A2 | c.694del (p.His232IlefsTer?) c.472del (p.His158IlefsTer?) c.439del (p.His147IlefsTer?) | dbSNP |
2 | g.31529312G>A | CA425567394 | SRD5A2 | c.693C>T (p.His231=) c.471C>T (p.His157=) c.438C>T (p.His146=) | |
2 | g.31529312G>C | CA346597852 | SRD5A2 | c.693C>G (p.His231Gln) c.471C>G (p.His157Gln) c.438C>G (p.His146Gln) | gnomAD v4 |
2 | g.31529312G>T | CA346597853 | SRD5A2 | c.693C>A (p.His231Gln) c.471C>A (p.His157Gln) c.438C>A (p.His146Gln) | |
2 | g.31529313T>A | CA346597854 | SRD5A2 | c.692A>T (p.His231Leu) c.470A>T (p.His157Leu) c.437A>T (p.His146Leu) | |
2 | g.31529313T>C | CA340081 | SRD5A2 | c.692A>G (p.His231Arg) c.470A>G (p.His157Arg) c.437A>G (p.His146Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529313T>G | CA346597855 | SRD5A2 | c.692A>C (p.His231Pro) c.470A>C (p.His157Pro) c.437A>C (p.His146Pro) | |
2 | g.31529313T= | CA1242197366 | SRD5A2 | c.692A= (p.His231=) c.470A= (p.His157=) c.437A= (p.His146=) | |
2 | g.31529314G>A | CA346597856 | SRD5A2 | c.691C>T (p.His231Tyr) c.469C>T (p.His157Tyr) c.436C>T (p.His146Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.[31529314G>A;31580732C>A] | CA2499306156 | SRD5A2 | c.[169G>T;691C>T] (p.Glu57Ter) c.[27-46966G>T;436C>T] (p.His146Tyr) | |
2 | g.31529314G>C | CA346597857 | SRD5A2 | c.691C>G (p.His231Asp) c.469C>G (p.His157Asp) c.436C>G (p.His146Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529314G= | CA1242197367 | SRD5A2 | c.691C= (p.His231=) c.469C= (p.His157=) c.436C= (p.His146=) | |
2 | g.31529314G>T | CA346597858 | SRD5A2 | c.691C>A (p.His231Asn) c.469C>A (p.His157Asn) c.436C>A (p.His146Asn) | |
2 | g.31529315G>A | CA425567395 | SRD5A2 | c.690C>T (p.His230=) c.468C>T (p.His156=) c.435C>T (p.His145=) | |
2 | g.31529315G>C | CA346597859 | SRD5A2 | c.690C>G (p.His230Gln) c.468C>G (p.His156Gln) c.435C>G (p.His145Gln) | |
2 | g.31529315G>T | CA346597860 | SRD5A2 | c.690C>A (p.His230Gln) c.468C>A (p.His156Gln) c.435C>A (p.His145Gln) | |
2 | g.31529316T>A | CA346597861 | SRD5A2 | c.689A>T (p.His230Leu) c.467A>T (p.His156Leu) c.434A>T (p.His145Leu) | |
2 | g.31529316T>C | CA346597862 | SRD5A2 | c.689A>G (p.His230Arg) c.467A>G (p.His156Arg) c.434A>G (p.His145Arg) | |
2 | g.31529316T>G | CA346597863 | SRD5A2 | c.689A>C (p.His230Pro) c.467A>C (p.His156Pro) c.434A>C (p.His145Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31529316T= | CA1242197368 | SRD5A2 | c.689A= (p.His230=) c.467A= (p.His156=) c.434A= (p.His145=) | |
2 | g.31529317G>A | CA1599868 | SRD5A2 | c.688C>T (p.His230Tyr) c.466C>T (p.His156Tyr) c.433C>T (p.His145Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31529317G>C | CA346597864 | SRD5A2 | c.688C>G (p.His230Asp) c.466C>G (p.His156Asp) c.433C>G (p.His145Asp) | |
2 | g.31529317G= | CA1242197369 | SRD5A2 | c.688C= (p.His230=) c.466C= (p.His156=) c.433C= (p.His145=) | |
2 | g.31529317G>T | CA346597865 | SRD5A2 | c.688C>A (p.His230Asn) c.466C>A (p.His156Asn) c.433C>A (p.His145Asn) | |
2 | g.31529318A>C | CA346597866 | SRD5A2 | c.687T>G (p.Phe229Leu) c.465T>G (p.Phe155Leu) c.432T>G (p.Phe144Leu) | |
2 | g.31529318A>G | CA425567396 | SRD5A2 | c.687T>C (p.Phe229=) c.465T>C (p.Phe155=) c.432T>C (p.Phe144=) | ClinVar gnomAD v4 |
2 | g.31529318A>T | CA346597867 | SRD5A2 | c.687T>A (p.Phe229Leu) c.465T>A (p.Phe155Leu) c.432T>A (p.Phe144Leu) | |
2 | g.31529321del | CA2697547972 | SRD5A2 | c.687del (p.His230ThrfsTer?) c.465del (p.His156ThrfsTer?) c.432del (p.His145ThrfsTer?) | ClinVar |
2 | g.31529319A= | CA1242197370 | SRD5A2 | c.686T= (p.Phe229=) c.464T= (p.Phe155=) c.431T= (p.Phe144=) | |
2 | g.31529319A>C | CA346597868 | SRD5A2 | c.686T>G (p.Phe229Cys) c.464T>G (p.Phe155Cys) c.431T>G (p.Phe144Cys) | |
2 | g.31529319A>G | CA346597869 | SRD5A2 | c.686T>C (p.Phe229Ser) c.464T>C (p.Phe155Ser) c.431T>C (p.Phe144Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31529319A>T | CA346597870 | SRD5A2 | c.686T>A (p.Phe229Tyr) c.464T>A (p.Phe155Tyr) c.431T>A (p.Phe144Tyr) | |
2 | g.31529320A>C | CA346597871 | SRD5A2 | c.685T>G (p.Phe229Val) c.463T>G (p.Phe155Val) c.430T>G (p.Phe144Val) | |
2 | g.31529320A>G | CA346597872 | SRD5A2 | c.685T>C (p.Phe229Leu) c.463T>C (p.Phe155Leu) c.430T>C (p.Phe144Leu) | COSMIC |
2 | g.31529320A>T | CA346597873 | SRD5A2 | c.685T>A (p.Phe229Ile) c.463T>A (p.Phe155Ile) c.430T>A (p.Phe144Ile) | |
2 | g.31529321A>C | CA425567397 | SRD5A2 | c.684T>G (p.Ala228=) c.462T>G (p.Ala154=) c.429T>G (p.Ala143=) | |
2 | g.31529321A>G | CA425567398 | SRD5A2 | c.684T>C (p.Ala228=) c.462T>C (p.Ala154=) c.429T>C (p.Ala143=) | |
2 | g.31529321A>T | CA425567399 | SRD5A2 | c.684T>A (p.Ala228=) c.462T>A (p.Ala154=) c.429T>A (p.Ala143=) | |
2 | g.31529322G>A | CA346597874 | SRD5A2 | c.683C>T (p.Ala228Val) c.461C>T (p.Ala154Val) c.428C>T (p.Ala143Val) | ClinVar dbSNP |
2 | g.31529322G>C | CA346597875 | SRD5A2 | c.683C>G (p.Ala228Gly) c.461C>G (p.Ala154Gly) c.428C>G (p.Ala143Gly) | ClinVar |
2 | g.31529322G= | CA1242197371 | SRD5A2 | c.683C= (p.Ala228=) c.461C= (p.Ala154=) c.428C= (p.Ala143=) | |
2 | g.31529322G>T | CA346597876 | SRD5A2 | c.683C>A (p.Ala228Asp) c.461C>A (p.Ala154Asp) c.428C>A (p.Ala143Asp) | |
2 | g.31529323C>A | CA346597877 | SRD5A2 | c.682G>T (p.Ala228Ser) c.460G>T (p.Ala154Ser) c.427G>T (p.Ala143Ser) | |
2 | g.31529323C= | CA1242197372 | SRD5A2 | c.682G= (p.Ala228=) c.460G= (p.Ala154=) c.427G= (p.Ala143=) | |
2 | g.31529323C>G | CA1599869 | SRD5A2 | c.682G>C (p.Ala228Pro) c.460G>C (p.Ala154Pro) c.427G>C (p.Ala143Pro) | dbSNP ExAC gnomAD v2 |
2 | g.31529323C>T | CA340077 | SRD5A2 | c.682G>A (p.Ala228Thr) c.460G>A (p.Ala154Thr) c.427G>A (p.Ala143Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.31529324T>A | CA425567402 | SRD5A2 | c.681A>T (p.Arg227=) c.459A>T (p.Arg153=) c.426A>T (p.Arg142=) | |
2 | g.31529324T>C | CA425567401 | SRD5A2 | c.681A>G (p.Arg227=) c.459A>G (p.Arg153=) c.426A>G (p.Arg142=) | gnomAD v4 |
2 | g.31529324T>G | CA425567400 | SRD5A2 | c.681A>C (p.Arg227=) c.459A>C (p.Arg153=) c.426A>C (p.Arg142=) | |
2 | g.31529324T= | CA2497028759 | SRD5A2 | c.681A= (p.Arg227=) c.459A= (p.Arg153=) c.426A= (p.Arg142=) | |
2 | g.31529325C>A | CA346597878 | SRD5A2 | c.680G>T (p.Arg227Leu) c.458G>T (p.Arg153Leu) c.425G>T (p.Arg142Leu) | |
2 | g.31529325C= | CA1242197373 | SRD5A2 | c.680G= (p.Arg227=) c.458G= (p.Arg153=) c.425G= (p.Arg142=) | |
2 | g.31529325C>G | CA346597879 | SRD5A2 | c.680G>C (p.Arg227Pro) c.458G>C (p.Arg153Pro) c.425G>C (p.Arg142Pro) | |
2 | g.31529325C>T | CA116158 | SRD5A2 | c.680G>A (p.Arg227Gln) c.458G>A (p.Arg153Gln) c.425G>A (p.Arg142Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |