Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31533726G>A | CA346598658 | SRD5A2 | c.322C>T (p.Pro108Ser) c.100C>T (p.Pro34Ser) c.67C>T (p.Pro23Ser) | |
2 | g.31533726G>C | CA346598660 | SRD5A2 | c.322C>G (p.Pro108Ala) c.100C>G (p.Pro34Ala) c.67C>G (p.Pro23Ala) | COSMIC |
2 | g.31533726G>T | CA346598659 | SRD5A2 | c.322C>A (p.Pro108Thr) c.100C>A (p.Pro34Thr) c.67C>A (p.Pro23Thr) | gnomAD v4 |
2 | g.31533727A= | CA1242199359 | SRD5A2 | c.321T= (p.Tyr107=) c.99T= (p.Tyr33=) c.66T= (p.Tyr22=) | |
2 | g.31533727A>C | CA346598661 | SRD5A2 | c.321T>G (p.Tyr107Ter) c.99T>G (p.Tyr33Ter) c.66T>G (p.Tyr22Ter) | |
2 | g.31533727A>G | CA1599963 | SRD5A2 | c.321T>C (p.Tyr107=) c.99T>C (p.Tyr33=) c.66T>C (p.Tyr22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533727A>T | CA346598662 | SRD5A2 | c.321T>A (p.Tyr107Ter) c.99T>A (p.Tyr33Ter) c.66T>A (p.Tyr22Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.31533728T>A | CA346598663 | SRD5A2 | c.320A>T (p.Tyr107Phe) c.98A>T (p.Tyr33Phe) c.65A>T (p.Tyr22Phe) | |
2 | g.31533728T>C | CA346598664 | SRD5A2 | c.320A>G (p.Tyr107Cys) c.98A>G (p.Tyr33Cys) c.65A>G (p.Tyr22Cys) | dbSNP |
2 | g.31533728T>G | CA346598665 | SRD5A2 | c.320A>C (p.Tyr107Ser) c.98A>C (p.Tyr33Ser) c.65A>C (p.Tyr22Ser) | |
2 | g.31533728T= | CA1242199360 | SRD5A2 | c.320A= (p.Tyr107=) c.98A= (p.Tyr33=) c.65A= (p.Tyr22=) | |
2 | g.31533729A>C | CA346598666 | SRD5A2 | c.319T>G (p.Tyr107Asp) c.97T>G (p.Tyr33Asp) c.64T>G (p.Tyr22Asp) | |
2 | g.31533729A>G | CA346598667 | SRD5A2 | c.319T>C (p.Tyr107His) c.97T>C (p.Tyr33His) c.64T>C (p.Tyr22His) | gnomAD v4 |
2 | g.31533729A>T | CA346598668 | SRD5A2 | c.319T>A (p.Tyr107Asn) c.97T>A (p.Tyr33Asn) c.64T>A (p.Tyr22Asn) | |
2 | g.31533730A>C | CA425568464 | SRD5A2 | c.318T>G (p.Pro106=) c.96T>G (p.Pro32=) c.63T>G (p.Pro21=) | gnomAD v4 |
2 | g.31533730A>G | CA425568465 | SRD5A2 | c.318T>C (p.Pro106=) c.96T>C (p.Pro32=) c.63T>C (p.Pro21=) | ClinVar gnomAD v2 gnomAD v4 |
2 | g.31533730A>T | CA425568466 | SRD5A2 | c.318T>A (p.Pro106=) c.96T>A (p.Pro32=) c.63T>A (p.Pro21=) | gnomAD v4 |
2 | g.31533730_31533731delinsAG | CA1242199361 | SRD5A2 | c.317_318delinsCT (p.Pro106=) c.95_96delinsCT (p.Pro32=) c.62_63delinsCT (p.Pro21=) | |
2 | g.31533731G>A | CA1599964 | SRD5A2 | c.317C>T (p.Pro106Leu) c.95C>T (p.Pro32Leu) c.62C>T (p.Pro21Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533731G>C | CA346598670 | SRD5A2 | c.317C>G (p.Pro106Arg) c.95C>G (p.Pro32Arg) c.62C>G (p.Pro21Arg) | |
2 | g.31533731G= | CA1242199362 | SRD5A2 | c.317C= (p.Pro106=) c.95C= (p.Pro32=) c.62C= (p.Pro21=) | |
2 | g.31533731G>T | CA346598669 | SRD5A2 | c.317C>A (p.Pro106His) c.95C>A (p.Pro32His) c.62C>A (p.Pro21His) | |
2 | g.31533732del | CA45136783 | SRD5A2 | c.317del (p.Pro106LeufsTer25) c.95del (p.Pro32LeufsTer25) c.62del (p.Pro21LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533732G>A | CA45136784 | SRD5A2 | c.316C>T (p.Pro106Ser) c.94C>T (p.Pro32Ser) c.61C>T (p.Pro21Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533732G>C | CA1599965 | SRD5A2 | c.316C>G (p.Pro106Ala) c.94C>G (p.Pro32Ala) c.61C>G (p.Pro21Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533732G= | CA1242199363 | SRD5A2 | c.316C= (p.Pro106=) c.94C= (p.Pro32=) c.61C= (p.Pro21=) | |
2 | g.31533732G>T | CA346598671 | SRD5A2 | c.316C>A (p.Pro106Thr) c.94C>A (p.Pro32Thr) c.61C>A (p.Pro21Thr) | gnomAD v4 |
2 | g.31533733C>A | CA346598672 | SRD5A2 | c.315G>T (p.Arg105Ser) c.93G>T (p.Arg31Ser) c.60G>T (p.Arg20Ser) | |
2 | g.31533733C>G | CA346598673 | SRD5A2 | c.315G>C (p.Arg105Ser) c.93G>C (p.Arg31Ser) c.60G>C (p.Arg20Ser) | |
2 | g.31533733C>T | CA425568474 | SRD5A2 | c.315G>A (p.Arg105=) c.93G>A (p.Arg31=) c.60G>A (p.Arg20=) | gnomAD v4 |
2 | g.31533734C>A | CA346598675 | SRD5A2 | c.314G>T (p.Arg105Met) c.92G>T (p.Arg31Met) c.59G>T (p.Arg20Met) | gnomAD v4 |
2 | g.31533734C= | CA1242199364 | SRD5A2 | c.314G= (p.Arg105=) c.92G= (p.Arg31=) c.59G= (p.Arg20=) | |
2 | g.31533734C>G | CA346598674 | SRD5A2 | c.314G>C (p.Arg105Thr) c.92G>C (p.Arg31Thr) c.59G>C (p.Arg20Thr) | COSMIC |
2 | g.31533734C>T | CA45136785 | SRD5A2 | c.314G>A (p.Arg105Lys) c.92G>A (p.Arg31Lys) c.59G>A (p.Arg20Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533735T>A | CA346598676 | SRD5A2 | c.313A>T (p.Arg105Trp) c.91A>T (p.Arg31Trp) c.58A>T (p.Arg20Trp) | |
2 | g.31533735T>C | CA346598677 | SRD5A2 | c.313A>G (p.Arg105Gly) c.91A>G (p.Arg31Gly) c.58A>G (p.Arg20Gly) | |
2 | g.31533735T>G | CA425568477 | SRD5A2 | c.313A>C (p.Arg105=) c.91A>C (p.Arg31=) c.58A>C (p.Arg20=) | |
2 | g.31533736C>A | CA425568479 | SRD5A2 | c.312G>T (p.Gly104=) c.90G>T (p.Gly30=) c.57G>T (p.Gly19=) | gnomAD v4 |
2 | g.31533736C= | CA1242199365 | SRD5A2 | c.312G= (p.Gly104=) c.90G= (p.Gly30=) c.57G= (p.Gly19=) | |
2 | g.31533736C>G | CA425568481 | SRD5A2 | c.312G>C (p.Gly104=) c.90G>C (p.Gly30=) c.57G>C (p.Gly19=) | |
2 | g.31533736C>T | CA425568480 | SRD5A2 | c.312G>A (p.Gly104=) c.90G>A (p.Gly30=) c.57G>A (p.Gly19=) | ClinVar dbSNP gnomAD v2 |
2 | g.31533738del | CA2658499286 | SRD5A2 | c.312del (p.Arg105GlyfsTer26) c.90del (p.Arg31GlyfsTer26) c.57del (p.Arg20GlyfsTer26) | ClinVar gnomAD v4 |
2 | g.31533737C>A | CA346598678 | SRD5A2 | c.311G>T (p.Gly104Val) c.89G>T (p.Gly30Val) c.56G>T (p.Gly19Val) | gnomAD v4 |
2 | g.31533737C= | CA1242199366 | SRD5A2 | c.311G= (p.Gly104=) c.89G= (p.Gly30=) c.56G= (p.Gly19=) | |
2 | g.31533737C>G | CA346598679 | SRD5A2 | c.311G>C (p.Gly104Ala) c.89G>C (p.Gly30Ala) c.56G>C (p.Gly19Ala) | |
2 | g.31533737C>T | CA1599966 | SRD5A2 | c.311G>A (p.Gly104Glu) c.89G>A (p.Gly30Glu) c.56G>A (p.Gly19Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533738C>A | CA346598680 | SRD5A2 | c.310G>T (p.Gly104Trp) c.88G>T (p.Gly30Trp) c.55G>T (p.Gly19Trp) | dbSNP gnomAD v4 |
2 | g.31533738C= | CA1242199367 | SRD5A2 | c.310G= (p.Gly104=) c.88G= (p.Gly30=) c.55G= (p.Gly19=) | |
2 | g.31533738C>G | CA346598682 | SRD5A2 | c.310G>C (p.Gly104Arg) c.88G>C (p.Gly30Arg) c.55G>C (p.Gly19Arg) | dbSNP gnomAD v4 |
2 | g.31533738C>T | CA346598681 | SRD5A2 | c.310G>A (p.Gly104Arg) c.88G>A (p.Gly30Arg) c.55G>A (p.Gly19Arg) | |
2 | g.31533739T>A | CA425568486 | SRD5A2 | c.309A>T (p.Arg103=) c.87A>T (p.Arg29=) c.54A>T (p.Arg18=) | |
2 | g.31533739T>C | CA425568489 | SRD5A2 | c.309A>G (p.Arg103=) c.87A>G (p.Arg29=) c.54A>G (p.Arg18=) | |
2 | g.31533739T>G | CA425568487 | SRD5A2 | c.309A>C (p.Arg103=) c.87A>C (p.Arg29=) c.54A>C (p.Arg18=) | |
2 | g.31533740C>A | CA346598683 | SRD5A2 | c.308G>T (p.Arg103Leu) c.86G>T (p.Arg29Leu) c.53G>T (p.Arg18Leu) | gnomAD v4 |
2 | g.31533740C= | CA1242199368 | SRD5A2 | c.308G= (p.Arg103=) c.86G= (p.Arg29=) c.53G= (p.Arg18=) | |
2 | g.31533740C>G | CA346598684 | SRD5A2 | c.308G>C (p.Arg103Pro) c.86G>C (p.Arg29Pro) c.53G>C (p.Arg18Pro) | |
2 | g.31533740C>T | CA1599967 | SRD5A2 | c.308G>A (p.Arg103Gln) c.86G>A (p.Arg29Gln) c.53G>A (p.Arg18Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.31533741G>A | CA1599969 | SRD5A2 | c.307C>T (p.Arg103Ter) c.85C>T (p.Arg29Ter) c.52C>T (p.Arg18Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533741G>C | CA346598685 | SRD5A2 | c.307C>G (p.Arg103Gly) c.85C>G (p.Arg29Gly) c.52C>G (p.Arg18Gly) | |
2 | g.31533741G= | CA1242199369 | SRD5A2 | c.307C= (p.Arg103=) c.85C= (p.Arg29=) c.52C= (p.Arg18=) | |
2 | g.31533741G>T | CA1599968 | SRD5A2 | c.307C>A (p.Arg103=) c.85C>A (p.Arg29=) c.52C>A (p.Arg18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533742A= | CA1242199370 | SRD5A2 | c.306T= (p.Asn102=) c.84T= (p.Asn28=) c.51T= (p.Asn17=) | |
2 | g.31533742A>C | CA346598686 | SRD5A2 | c.306T>G (p.Asn102Lys) c.84T>G (p.Asn28Lys) c.51T>G (p.Asn17Lys) | |
2 | g.31533742A>G | CA425568493 | SRD5A2 | c.306T>C (p.Asn102=) c.84T>C (p.Asn28=) c.51T>C (p.Asn17=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533742A>T | CA346598687 | SRD5A2 | c.306T>A (p.Asn102Lys) c.84T>A (p.Asn28Lys) c.51T>A (p.Asn17Lys) | dbSNP |
2 | g.31533743T>A | CA346598688 | SRD5A2 | c.305A>T (p.Asn102Ile) c.83A>T (p.Asn28Ile) c.50A>T (p.Asn17Ile) | |
2 | g.31533743T>C | CA346598689 | SRD5A2 | c.305A>G (p.Asn102Ser) c.83A>G (p.Asn28Ser) c.50A>G (p.Asn17Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31533743T>G | CA346598690 | SRD5A2 | c.305A>C (p.Asn102Thr) c.83A>C (p.Asn28Thr) c.50A>C (p.Asn17Thr) | |
2 | g.31533743T= | CA1242199371 | SRD5A2 | c.305A= (p.Asn102=) c.83A= (p.Asn28=) c.50A= (p.Asn17=) | |
2 | g.31533744T>A | CA346598692 | SRD5A2 | c.304A>T (p.Asn102Tyr) c.82A>T (p.Asn28Tyr) c.49A>T (p.Asn17Tyr) | |
2 | g.31533744T>C | CA346598693 | SRD5A2 | c.304A>G (p.Asn102Asp) c.82A>G (p.Asn28Asp) c.49A>G (p.Asn17Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533744T>G | CA346598691 | SRD5A2 | c.304A>C (p.Asn102His) c.82A>C (p.Asn28His) c.49A>C (p.Asn17His) | |
2 | g.31533744T= | CA1242199372 | SRD5A2 | c.304A= (p.Asn102=) c.82A= (p.Asn28=) c.49A= (p.Asn17=) | |
2 | g.31533745G>A | CA425568499 | SRD5A2 | c.303C>T (p.Leu101=) c.81C>T (p.Leu27=) c.48C>T (p.Leu16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533745G>C | CA425568501 | SRD5A2 | c.303C>G (p.Leu101=) c.81C>G (p.Leu27=) c.48C>G (p.Leu16=) | |
2 | g.31533745G= | CA1242199373 | SRD5A2 | c.303C= (p.Leu101=) c.81C= (p.Leu27=) c.48C= (p.Leu16=) | |
2 | g.31533745G>T | CA425568503 | SRD5A2 | c.303C>A (p.Leu101=) c.81C>A (p.Leu27=) c.48C>A (p.Leu16=) | gnomAD v4 |
2 | g.31533746A>C | CA346598696 | SRD5A2 | c.302T>G (p.Leu101Arg) c.80T>G (p.Leu27Arg) c.47T>G (p.Leu16Arg) | |
2 | g.31533746A>G | CA346598694 | SRD5A2 | c.302T>C (p.Leu101Pro) c.80T>C (p.Leu27Pro) c.47T>C (p.Leu16Pro) | gnomAD v4 |
2 | g.31533746A>T | CA346598695 | SRD5A2 | c.302T>A (p.Leu101His) c.80T>A (p.Leu27His) c.47T>A (p.Leu16His) | |
2 | g.31533747G>A | CA1599970 | SRD5A2 | c.301C>T (p.Leu101Phe) c.79C>T (p.Leu27Phe) c.46C>T (p.Leu16Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533747G>C | CA346598697 | SRD5A2 | c.301C>G (p.Leu101Val) c.79C>G (p.Leu27Val) c.46C>G (p.Leu16Val) | gnomAD v4 |
2 | g.31533747G= | CA1242199374 | SRD5A2 | c.301C= (p.Leu101=) c.79C= (p.Leu27=) c.46C= (p.Leu16=) | |
2 | g.31533747G>T | CA346598698 | SRD5A2 | c.301C>A (p.Leu101Ile) c.79C>A (p.Leu27Ile) c.46C>A (p.Leu16Ile) | gnomAD v4 |
2 | g.31533748C>A | CA425568509 | SRD5A2 | c.300G>T (p.Leu100=) c.78G>T (p.Leu26=) c.45G>T (p.Leu15=) | gnomAD v4 |
2 | g.31533748C= | CA1242199375 | SRD5A2 | c.300G= (p.Leu100=) c.78G= (p.Leu26=) c.45G= (p.Leu15=) | |
2 | g.31533748C>G | CA425568511 | SRD5A2 | c.300G>C (p.Leu100=) c.78G>C (p.Leu26=) c.45G>C (p.Leu15=) | |
2 | g.31533748C>T | CA1599971 | SRD5A2 | c.300G>A (p.Leu100=) c.78G>A (p.Leu26=) c.45G>A (p.Leu15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533749A>C | CA346598701 | SRD5A2 | c.299T>G (p.Leu100Arg) c.77T>G (p.Leu26Arg) c.44T>G (p.Leu15Arg) | |
2 | g.31533749A>G | CA346598699 | SRD5A2 | c.299T>C (p.Leu100Pro) c.77T>C (p.Leu26Pro) c.44T>C (p.Leu15Pro) | gnomAD v4 |
2 | g.31533749A>T | CA346598700 | SRD5A2 | c.299T>A (p.Leu100Gln) c.77T>A (p.Leu26Gln) c.44T>A (p.Leu15Gln) | gnomAD v4 |
2 | g.31533750G>A | CA425568514 | SRD5A2 | c.298C>T (p.Leu100=) c.76C>T (p.Leu26=) c.43C>T (p.Leu15=) | gnomAD v4 |
2 | g.31533750G>C | CA346598702 | SRD5A2 | c.298C>G (p.Leu100Val) c.76C>G (p.Leu26Val) c.43C>G (p.Leu15Val) | |
2 | g.31533750G>T | CA346598703 | SRD5A2 | c.298C>A (p.Leu100Met) c.76C>A (p.Leu26Met) c.43C>A (p.Leu15Met) | |
2 | g.31533751T>A | CA425568517 | SRD5A2 | c.297A>T (p.Ser99=) c.75A>T (p.Ser25=) c.42A>T (p.Ser14=) | |
2 | g.31533751T>C | CA425568518 | SRD5A2 | c.297A>G (p.Ser99=) c.75A>G (p.Ser25=) c.42A>G (p.Ser14=) | |
2 | g.31533751T>G | CA425568519 | SRD5A2 | c.297A>C (p.Ser99=) c.75A>C (p.Ser25=) c.42A>C (p.Ser14=) | |
2 | g.31533752G>A | CA346598704 | SRD5A2 | c.296C>T (p.Ser99Leu) c.74C>T (p.Ser25Leu) c.41C>T (p.Ser14Leu) | gnomAD v4 |
2 | g.31533752G>C | CA346598705 | SRD5A2 | c.296C>G (p.Ser99Ter) c.74C>G (p.Ser25Ter) c.41C>G (p.Ser14Ter) | |
2 | g.31533752G>T | CA346598706 | SRD5A2 | c.296C>A (p.Ser99Ter) c.74C>A (p.Ser25Ter) c.41C>A (p.Ser14Ter) | gnomAD v4 |
2 | g.31533753A>C | CA346598707 | SRD5A2 | c.295T>G (p.Ser99Ala) c.73T>G (p.Ser25Ala) c.40T>G (p.Ser14Ala) | |
2 | g.31533753A>G | CA346598709 | SRD5A2 | c.295T>C (p.Ser99Pro) c.73T>C (p.Ser25Pro) c.40T>C (p.Ser14Pro) | |
2 | g.31533753A>T | CA346598708 | SRD5A2 | c.295T>A (p.Ser99Thr) c.73T>A (p.Ser25Thr) c.40T>A (p.Ser14Thr) | |
2 | g.31533754G>A | CA425568525 | SRD5A2 | c.294C>T (p.Tyr98=) c.72C>T (p.Tyr24=) c.39C>T (p.Tyr13=) | gnomAD v4 |
2 | g.31533754G>C | CA346598710 | SRD5A2 | c.294C>G (p.Tyr98Ter) c.72C>G (p.Tyr24Ter) c.39C>G (p.Tyr13Ter) | |
2 | g.31533754G>T | CA346598711 | SRD5A2 | c.294C>A (p.Tyr98Ter) c.72C>A (p.Tyr24Ter) c.39C>A (p.Tyr13Ter) | |
2 | g.31533755del | CA2658499287 | SRD5A2 | c.293del (p.Tyr98SerfsTer?) c.71del (p.Tyr24SerfsTer?) c.38del (p.Tyr13SerfsTer?) | gnomAD v4 |
2 | g.31533755T>A | CA346598712 | SRD5A2 | c.293A>T (p.Tyr98Phe) c.71A>T (p.Tyr24Phe) c.38A>T (p.Tyr13Phe) | |
2 | g.31533755T>C | CA346598713 | SRD5A2 | c.293A>G (p.Tyr98Cys) c.71A>G (p.Tyr24Cys) c.38A>G (p.Tyr13Cys) | gnomAD v4 |
2 | g.31533755T>G | CA346598714 | SRD5A2 | c.293A>C (p.Tyr98Ser) c.71A>C (p.Tyr24Ser) c.38A>C (p.Tyr13Ser) | |
2 | g.31533756A>C | CA346598715 | SRD5A2 | c.292T>G (p.Tyr98Asp) c.70T>G (p.Tyr24Asp) c.37T>G (p.Tyr13Asp) | |
2 | g.31533756A>G | CA346598716 | SRD5A2 | c.292T>C (p.Tyr98His) c.70T>C (p.Tyr24His) c.37T>C (p.Tyr13His) | gnomAD v4 |
2 | g.31533756A>T | CA346598717 | SRD5A2 | c.292T>A (p.Tyr98Asn) c.70T>A (p.Tyr24Asn) c.37T>A (p.Tyr13Asn) | |
2 | g.31533759_31533760del | CA2658499288 | SRD5A2 | c.291_292del (p.Tyr98LeufsTer?) c.69_70del (p.Tyr24LeufsTer?) c.36_37del (p.Tyr13LeufsTer?) | gnomAD v4 |
2 | g.31533757C>A | CA425568532 | SRD5A2 | c.291G>T (p.Val97=) c.69G>T (p.Val23=) c.36G>T (p.Val12=) | gnomAD v4 |
2 | g.31533757C= | CA1242199376 | SRD5A2 | c.291G= (p.Val97=) c.69G= (p.Val23=) c.36G= (p.Val12=) | |
2 | g.31533757C>G | CA425568533 | SRD5A2 | c.291G>C (p.Val97=) c.69G>C (p.Val23=) c.36G>C (p.Val12=) | |
2 | g.31533757C>T | CA425568534 | SRD5A2 | c.291G>A (p.Val97=) c.69G>A (p.Val23=) c.36G>A (p.Val12=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533758A>C | CA346598718 | SRD5A2 | c.290T>G (p.Val97Gly) c.68T>G (p.Val23Gly) c.35T>G (p.Val12Gly) | |
2 | g.31533758A>G | CA346598719 | SRD5A2 | c.290T>C (p.Val97Ala) c.68T>C (p.Val23Ala) c.35T>C (p.Val12Ala) | |
2 | g.31533758A>T | CA346598720 | SRD5A2 | c.290T>A (p.Val97Glu) c.68T>A (p.Val23Glu) c.35T>A (p.Val12Glu) | |
2 | g.31533759C>A | CA346598722 | SRD5A2 | c.289G>T (p.Val97Leu) c.67G>T (p.Val23Leu) c.34G>T (p.Val12Leu) | gnomAD v4 |
2 | g.31533759C= | CA1242199377 | SRD5A2 | c.289G= (p.Val97=) c.67G= (p.Val23=) c.34G= (p.Val12=) | |
2 | g.31533759C>G | CA1599972 | SRD5A2 | c.289G>C (p.Val97Leu) c.67G>C (p.Val23Leu) c.34G>C (p.Val12Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533759C>T | CA346598721 | SRD5A2 | c.289G>A (p.Val97Met) c.67G>A (p.Val23Met) c.34G>A (p.Val12Met) | gnomAD v4 |
2 | g.31533760A= | CA1242199378 | SRD5A2 | c.288T= (p.Phe96=) c.66T= (p.Phe22=) c.33T= (p.Phe11=) | |
2 | g.31533760A>C | CA1599973 | SRD5A2 | c.288T>G (p.Phe96Leu) c.66T>G (p.Phe22Leu) c.33T>G (p.Phe11Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533760A>G | CA425568539 | SRD5A2 | c.288T>C (p.Phe96=) c.66T>C (p.Phe22=) c.33T>C (p.Phe11=) | gnomAD v4 COSMIC |
2 | g.31533760A>T | CA346598723 | SRD5A2 | c.288T>A (p.Phe96Leu) c.66T>A (p.Phe22Leu) c.33T>A (p.Phe11Leu) | |
2 | g.31533761A>C | CA346598724 | SRD5A2 | c.287T>G (p.Phe96Cys) c.65T>G (p.Phe22Cys) c.32T>G (p.Phe11Cys) | |
2 | g.31533761A>G | CA346598725 | SRD5A2 | c.287T>C (p.Phe96Ser) c.65T>C (p.Phe22Ser) c.32T>C (p.Phe11Ser) | gnomAD v4 |
2 | g.31533761A>T | CA346598726 | SRD5A2 | c.287T>A (p.Phe96Tyr) c.65T>A (p.Phe22Tyr) c.32T>A (p.Phe11Tyr) | |
2 | g.31533762A>C | CA346598727 | SRD5A2 | c.286T>G (p.Phe96Val) c.64T>G (p.Phe22Val) c.31T>G (p.Phe11Val) | |
2 | g.31533762A>G | CA346598728 | SRD5A2 | c.286T>C (p.Phe96Leu) c.64T>C (p.Phe22Leu) c.31T>C (p.Phe11Leu) | |
2 | g.31533762A>T | CA346598729 | SRD5A2 | c.286T>A (p.Phe96Ile) c.64T>A (p.Phe22Ile) c.31T>A (p.Phe11Ile) | COSMIC |
2 | g.31533763T>A | CA425568546 | SRD5A2 | c.285A>T (p.Thr95=) c.63A>T (p.Thr21=) c.30A>T (p.Thr10=) | |
2 | g.31533763T>C | CA425568547 | SRD5A2 | c.285A>G (p.Thr95=) c.63A>G (p.Thr21=) c.30A>G (p.Thr10=) | |
2 | g.31533763T>G | CA425568550 | SRD5A2 | c.285A>C (p.Thr95=) c.63A>C (p.Thr21=) c.30A>C (p.Thr10=) | |
2 | g.31533764G>A | CA45136786 | SRD5A2 | c.284C>T (p.Thr95Ile) c.62C>T (p.Thr21Ile) c.29C>T (p.Thr10Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533764G>C | CA346598730 | SRD5A2 | c.284C>G (p.Thr95Arg) c.62C>G (p.Thr21Arg) c.29C>G (p.Thr10Arg) | |
2 | g.31533764G= | CA1242199379 | SRD5A2 | c.284C= (p.Thr95=) c.62C= (p.Thr21=) c.29C= (p.Thr10=) | |
2 | g.31533764G>T | CA346598731 | SRD5A2 | c.284C>A (p.Thr95Lys) c.62C>A (p.Thr21Lys) c.29C>A (p.Thr10Lys) | |
2 | g.31533765T>A | CA346598732 | SRD5A2 | c.283A>T (p.Thr95Ser) c.61A>T (p.Thr21Ser) c.28A>T (p.Thr10Ser) | |
2 | g.31533765T>C | CA346598733 | SRD5A2 | c.283A>G (p.Thr95Ala) c.61A>G (p.Thr21Ala) c.28A>G (p.Thr10Ala) | |
2 | g.31533765T>G | CA346598734 | SRD5A2 | c.283A>C (p.Thr95Pro) c.61A>C (p.Thr21Pro) c.28A>C (p.Thr10Pro) | |
2 | g.31533766C>A | CA346598735 | SRD5A2 | c.282G>T (p.Arg94Ser) c.60G>T (p.Lys20Asn) c.27G>T (p.Arg9Ser) | gnomAD v4 |
2 | g.31533766C>G | CA346598736 | SRD5A2 | c.282G>C (p.Arg94Ser) c.60G>C (p.Lys20Asn) c.27G>C (p.Arg9Ser) | gnomAD v4 |
2 | g.31533766C>T | CA425568555 | SRD5A2 | c.282G>A (p.Arg94=) c.60G>A (p.Lys20=) c.27G>A (p.Arg9=) | |
2 | g.31533767C>A | CA346598737 | SRD5A2 | c.282-1G>T (n.282-1G>T) c.60-1G>T (n.60-1G>T) c.27-1G>T (n.27-1G>T) | gnomAD v4 |
2 | g.31533767C>G | CA346598738 | SRD5A2 | c.282-1G>C (n.282-1G>C) c.60-1G>C (n.60-1G>C) c.27-1G>C (n.27-1G>C) | |
2 | g.31533767C>T | CA346598739 | SRD5A2 | c.282-1G>A (n.282-1G>A) c.60-1G>A (n.60-1G>A) c.27-1G>A (n.27-1G>A) | gnomAD v4 COSMIC |
2 | g.31533768T>A | CA346598740 | SRD5A2 | c.282-2A>T (n.282-2A>T) c.60-2A>T (n.60-2A>T) c.27-2A>T (n.27-2A>T) | dbSNP gnomAD v2 |
2 | g.31533768T>C | CA346598741 | SRD5A2 | c.282-2A>G (n.282-2A>G) c.60-2A>G (n.60-2A>G) c.27-2A>G (n.27-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533768T>G | CA346598742 | SRD5A2 | c.282-2A>C (n.282-2A>C) c.60-2A>C (n.60-2A>C) c.27-2A>C (n.27-2A>C) | gnomAD v4 |
2 | g.31533768T= | CA1242199380 | SRD5A2 | c.282-2A= (n.282-2A=) c.60-2A= (n.60-2A=) c.27-2A= (n.27-2A=) | |
2 | g.31533769G>A | CA2658499290 | SRD5A2 | c.282-3C>T (n.282-3C>T) c.60-3C>T (n.60-3C>T) c.27-3C>T (n.27-3C>T) | gnomAD v4 |
2 | g.31533769G>C | CA45136787 | SRD5A2 | c.282-3C>G (n.282-3C>G) c.60-3C>G (n.60-3C>G) c.27-3C>G (n.27-3C>G) | dbSNP gnomAD v4 |
2 | g.31533769G= | CA1242199381 | SRD5A2 | c.282-3C= (n.282-3C=) c.60-3C= (n.60-3C=) c.27-3C= (n.27-3C=) | |
2 | g.31533769G>T | CA767761948 | SRD5A2 | c.282-3C>A (n.282-3C>A) c.60-3C>A (n.60-3C>A) c.27-3C>A (n.27-3C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533770G>A | CA2658499291 | SRD5A2 | c.282-4C>T (n.282-4C>T) c.60-4C>T (n.60-4C>T) c.27-4C>T (n.27-4C>T) | gnomAD v4 |
2 | g.31533770G>T | CA2658499292 | SRD5A2 | c.282-4C>A (n.282-4C>A) c.60-4C>A (n.60-4C>A) c.27-4C>A (n.27-4C>A) | gnomAD v4 |
2 | g.31533771G>A | CA531769399 | SRD5A2 | c.282-5C>T (n.282-5C>T) c.60-5C>T (n.60-5C>T) c.27-5C>T (n.27-5C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533771G= | CA1242199382 | SRD5A2 | c.282-5C= (n.282-5C=) c.60-5C= (n.60-5C=) c.27-5C= (n.27-5C=) | |
2 | g.31533771G>T | CA2658499293 | SRD5A2 | c.282-5C>A (n.282-5C>A) c.60-5C>A (n.60-5C>A) c.27-5C>A (n.27-5C>A) | gnomAD v4 |
2 | g.31533774A= | CA1242199383 | SRD5A2 | c.282-8T= (n.282-8T=) c.60-8T= (n.60-8T=) c.27-8T= (n.27-8T=) | |
2 | g.31533774A>C | CA531769400 | SRD5A2 | c.282-8T>G (n.282-8T>G) c.60-8T>G (n.60-8T>G) c.27-8T>G (n.27-8T>G) | dbSNP gnomAD v2 |
2 | g.31533775C>A | CA2658499294 | SRD5A2 | c.282-9G>T (n.282-9G>T) c.60-9G>T (n.60-9G>T) c.27-9G>T (n.27-9G>T) | gnomAD v4 |
2 | g.31533775C= | CA1242199384 | SRD5A2 | c.282-9G= (n.282-9G=) c.60-9G= (n.60-9G=) c.27-9G= (n.27-9G=) | |
2 | g.31533775C>T | CA1599974 | SRD5A2 | c.282-9G>A (n.282-9G>A) c.60-9G>A (n.60-9G>A) c.27-9G>A (n.27-9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533776A>C | CA2658499295 | SRD5A2 | c.282-10T>G (n.282-10T>G) c.60-10T>G (n.60-10T>G) c.27-10T>G (n.27-10T>G) | gnomAD v4 |
2 | g.31533777C>A | CA531769401 | SRD5A2 | c.282-11G>T (n.282-11G>T) c.60-11G>T (n.60-11G>T) c.27-11G>T (n.27-11G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533777C= | CA1242199385 | SRD5A2 | c.282-11G= (n.282-11G=) c.60-11G= (n.60-11G=) c.27-11G= (n.27-11G=) | |
2 | g.31533777C>T | CA531769402 | SRD5A2 | c.282-11G>A (n.282-11G>A) c.60-11G>A (n.60-11G>A) c.27-11G>A (n.27-11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533778A>G | CA2658499297 | SRD5A2 | c.282-12T>C (n.282-12T>C) c.60-12T>C (n.60-12T>C) c.27-12T>C (n.27-12T>C) | gnomAD v4 |
2 | g.31533778A>T | CA2658499296 | SRD5A2 | c.282-12T>A (n.282-12T>A) c.60-12T>A (n.60-12T>A) c.27-12T>A (n.27-12T>A) | gnomAD v4 |
2 | g.31533778_31533779delinsAG | CA1242199386 | SRD5A2 | c.282-13_282-12delinsCT (n.282-13_282-12delinsCT) c.60-13_60-12delinsCT (n.60-13_60-12delinsCT) c.27-13_27-12delinsCT (n.27-13_27-12delinsCT) | |
2 | g.31533779G>A | CA2697547976 | SRD5A2 | c.282-13C>T (n.282-13C>T) c.60-13C>T (n.60-13C>T) c.27-13C>T (n.27-13C>T) | ClinVar |
2 | g.31533779G>C | CA531769404 | SRD5A2 | c.282-13C>G (n.282-13C>G) c.60-13C>G (n.60-13C>G) c.27-13C>G (n.27-13C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533779G= | CA1242199387 | SRD5A2 | c.282-13C= (n.282-13C=) c.60-13C= (n.60-13C=) c.27-13C= (n.27-13C=) | |
2 | g.31533779G>T | CA2576929422 | SRD5A2 | c.282-13C>A (n.282-13C>A) c.60-13C>A (n.60-13C>A) c.27-13C>A (n.27-13C>A) | gnomAD v4 |
2 | g.31533781del | CA531769403 | SRD5A2 | c.282-13del (n.282-13del) c.60-13del (n.60-13del) c.27-13del (n.27-13del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533780G>A | CA531769405 | SRD5A2 | c.282-14C>T (n.282-14C>T) c.60-14C>T (n.60-14C>T) c.27-14C>T (n.27-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533780G= | CA1242199388 | SRD5A2 | c.282-14C= (n.282-14C=) c.60-14C= (n.60-14C=) c.27-14C= (n.27-14C=) | |
2 | g.31533780G>T | CA2658499298 | SRD5A2 | c.282-14C>A (n.282-14C>A) c.60-14C>A (n.60-14C>A) c.27-14C>A (n.27-14C>A) | gnomAD v4 |
2 | g.31533781G>A | CA2658499299 | SRD5A2 | c.282-15C>T (n.282-15C>T) c.60-15C>T (n.60-15C>T) c.27-15C>T (n.27-15C>T) | gnomAD v4 |
2 | g.31533783G>T | CA2658499300 | SRD5A2 | c.282-17C>A (n.282-17C>A) c.60-17C>A (n.60-17C>A) c.27-17C>A (n.27-17C>A) | gnomAD v4 |
2 | g.31533784G>T | CA2658499301 | SRD5A2 | c.282-18C>A (n.282-18C>A) c.60-18C>A (n.60-18C>A) c.27-18C>A (n.27-18C>A) | ClinVar gnomAD v4 |
2 | g.31533786A>G | CA2658499302 | SRD5A2 | c.282-20T>C (n.282-20T>C) c.60-20T>C (n.60-20T>C) c.27-20T>C (n.27-20T>C) | gnomAD v4 |
2 | g.31533787A>G | CA2576929423 | SRD5A2 | c.282-21T>C (n.282-21T>C) c.60-21T>C (n.60-21T>C) c.27-21T>C (n.27-21T>C) | |
2 | g.31533788G>A | CA2658499303 | SRD5A2 | c.282-22C>T (n.282-22C>T) c.60-22C>T (n.60-22C>T) c.27-22C>T (n.27-22C>T) | gnomAD v4 |
2 | g.31533788G>T | CA2658499304 | SRD5A2 | c.282-22C>A (n.282-22C>A) c.60-22C>A (n.60-22C>A) c.27-22C>A (n.27-22C>A) | gnomAD v4 |
2 | g.31533789G>A | CA1242199390 | SRD5A2 | c.282-23C>T (n.282-23C>T) c.60-23C>T (n.60-23C>T) c.27-23C>T (n.27-23C>T) | dbSNP gnomAD v4 |
2 | g.31533789G>C | CA767761959 | SRD5A2 | c.282-23C>G (n.282-23C>G) c.60-23C>G (n.60-23C>G) c.27-23C>G (n.27-23C>G) | dbSNP |
2 | g.31533789G= | CA1242199389 | SRD5A2 | c.282-23C= (n.282-23C=) c.60-23C= (n.60-23C=) c.27-23C= (n.27-23C=) | |
2 | g.31533792A>G | CA2576929424 | SRD5A2 | c.282-26T>C (n.282-26T>C) c.60-26T>C (n.60-26T>C) c.27-26T>C (n.27-26T>C) | gnomAD v4 |
2 | g.31533792A>T | CA2658499305 | SRD5A2 | c.282-26T>A (n.282-26T>A) c.60-26T>A (n.60-26T>A) c.27-26T>A (n.27-26T>A) | gnomAD v4 |
2 | g.31533793G>C | CA1242199391 | SRD5A2 | c.282-27C>G (n.282-27C>G) c.60-27C>G (n.60-27C>G) c.27-27C>G (n.27-27C>G) | dbSNP gnomAD v4 |
2 | g.31533793G= | CA1242199392 | SRD5A2 | c.282-27C= (n.282-27C=) c.60-27C= (n.60-27C=) c.27-27C= (n.27-27C=) | |
2 | g.31533793G>T | CA2658499306 | SRD5A2 | c.282-27C>A (n.282-27C>A) c.60-27C>A (n.60-27C>A) c.27-27C>A (n.27-27C>A) | gnomAD v4 |
2 | g.31533794G>T | CA2658499307 | SRD5A2 | c.282-28C>A (n.282-28C>A) c.60-28C>A (n.60-28C>A) c.27-28C>A (n.27-28C>A) | gnomAD v4 |
2 | g.31533795A>G | CA2658499308 | SRD5A2 | c.282-29T>C (n.282-29T>C) c.60-29T>C (n.60-29T>C) c.27-29T>C (n.27-29T>C) | gnomAD v4 |
2 | g.31533795A>T | CA2658499309 | SRD5A2 | c.282-29T>A (n.282-29T>A) c.60-29T>A (n.60-29T>A) c.27-29T>A (n.27-29T>A) | gnomAD v4 |
2 | g.31533796T>A | CA2576929425 | SRD5A2 | c.282-30A>T (n.282-30A>T) c.60-30A>T (n.60-30A>T) c.27-30A>T (n.27-30A>T) | |
2 | g.31533798C>A | CA2658499310 | SRD5A2 | c.282-32G>T (n.282-32G>T) c.60-32G>T (n.60-32G>T) c.27-32G>T (n.27-32G>T) | gnomAD v4 |
2 | g.31533798C>T | CA2658499311 | SRD5A2 | c.282-32G>A (n.282-32G>A) c.60-32G>A (n.60-32G>A) c.27-32G>A (n.27-32G>A) | dbSNP gnomAD v4 |
2 | g.31533799A>G | CA2658499312 | SRD5A2 | c.282-33T>C (n.282-33T>C) c.60-33T>C (n.60-33T>C) c.27-33T>C (n.27-33T>C) | gnomAD v4 |
2 | g.31533799A>T | CA2576929426 | SRD5A2 | c.282-33T>A (n.282-33T>A) c.60-33T>A (n.60-33T>A) c.27-33T>A (n.27-33T>A) | gnomAD v4 |
2 | g.31533800C>A | CA2658499313 | SRD5A2 | c.282-34G>T (n.282-34G>T) c.60-34G>T (n.60-34G>T) c.27-34G>T (n.27-34G>T) | gnomAD v4 |
2 | g.31533800C= | CA1242199393 | SRD5A2 | c.282-34G= (n.282-34G=) c.60-34G= (n.60-34G=) c.27-34G= (n.27-34G=) | |
2 | g.31533800C>T | CA531769406 | SRD5A2 | c.282-34G>A (n.282-34G>A) c.60-34G>A (n.60-34G>A) c.27-34G>A (n.27-34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533801T>C | CA1599975 | SRD5A2 | c.282-35A>G (n.282-35A>G) c.60-35A>G (n.60-35A>G) c.27-35A>G (n.27-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533801T>G | CA2658499314 | SRD5A2 | c.282-35A>C (n.282-35A>C) c.60-35A>C (n.60-35A>C) c.27-35A>C (n.27-35A>C) | gnomAD v4 |
2 | g.31533801T= | CA1242199394 | SRD5A2 | c.282-35A= (n.282-35A=) c.60-35A= (n.60-35A=) c.27-35A= (n.27-35A=) | |
2 | g.31533802G>A | CA2658499315 | SRD5A2 | c.282-36C>T (n.282-36C>T) c.60-36C>T (n.60-36C>T) c.27-36C>T (n.27-36C>T) | gnomAD v4 |
2 | g.31533802G>T | CA2658499316 | SRD5A2 | c.282-36C>A (n.282-36C>A) c.60-36C>A (n.60-36C>A) c.27-36C>A (n.27-36C>A) | gnomAD v4 |
2 | g.31533803T>C | CA45136788 | SRD5A2 | c.282-37A>G (n.282-37A>G) c.60-37A>G (n.60-37A>G) c.27-37A>G (n.27-37A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533803T= | CA1242199395 | SRD5A2 | c.282-37A= (n.282-37A=) c.60-37A= (n.60-37A=) c.27-37A= (n.27-37A=) | |
2 | g.31533804del | CA2658499317 | SRD5A2 | c.282-37del (n.282-37del) c.60-37del (n.60-37del) c.27-37del (n.27-37del) | gnomAD v4 |
2 | g.31533804T>C | CA1242199397 | SRD5A2 | c.282-38A>G (n.282-38A>G) c.60-38A>G (n.60-38A>G) c.27-38A>G (n.27-38A>G) | dbSNP gnomAD v4 |
2 | g.31533804T= | CA1242199396 | SRD5A2 | c.282-38A= (n.282-38A=) c.60-38A= (n.60-38A=) c.27-38A= (n.27-38A=) | |
2 | g.31533805A= | CA1242199398 | SRD5A2 | c.282-39T= (n.282-39T=) c.60-39T= (n.60-39T=) c.27-39T= (n.27-39T=) | |
2 | g.31533805A>G | CA1599976 | SRD5A2 | c.282-39T>C (n.282-39T>C) c.60-39T>C (n.60-39T>C) c.27-39T>C (n.27-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.31533810dup | CA531769407 | SRD5A2 | c.282-39dup (n.282-39dup) c.60-39dup (n.60-39dup) c.27-39dup (n.27-39dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.31533807A>C | CA2576929427 | SRD5A2 | c.282-41T>G (n.282-41T>G) c.60-41T>G (n.60-41T>G) c.27-41T>G (n.27-41T>G) | gnomAD v4 |
2 | g.31533809A>G | CA2514162264 | SRD5A2 | c.282-43T>C (n.282-43T>C) c.60-43T>C (n.60-43T>C) c.27-43T>C (n.27-43T>C) | gnomAD v4 |
2 | g.31533810A>G | CA2658499319 | SRD5A2 | c.282-44T>C (n.282-44T>C) c.60-44T>C (n.60-44T>C) c.27-44T>C (n.27-44T>C) | gnomAD v4 |
2 | g.31533811G>A | CA2749375125 | SRD5A2 | c.282-45C>T (n.282-45C>T) c.60-45C>T (n.60-45C>T) c.27-45C>T (n.27-45C>T) | |
2 | g.31533811G>C | CA2749375124 | SRD5A2 | c.282-45C>G (n.282-45C>G) c.60-45C>G (n.60-45C>G) c.27-45C>G (n.27-45C>G) | |
2 | g.31533811G>T | CA2658499320 | SRD5A2 | c.282-45C>A (n.282-45C>A) c.60-45C>A (n.60-45C>A) c.27-45C>A (n.27-45C>A) | gnomAD v4 |
2 | g.31533815_31533816insACCAAACACACCCAACACA | CA2749375126 | SRD5A2 | c.282-47_282-46insGTTGGGTGTGTTTGGTTGT (n.282-47_282-46insGTTGGGTGTGTTTGGTTGT) c.60-47_60-46insGTTGGGTGTGTTTGGTTGT (n.60-47_60-46insGTTGGGTGTGTTTGGTTGT) c.27-47_27-46insGTTGGGTGTGTTTGGTTGT (n.27-47_27-46insGTTGGGTGTGTTTGGTTGT) | |
2 | g.31533814C>A | CA2658499321 | SRD5A2 | c.282-48G>T (n.282-48G>T) c.60-48G>T (n.60-48G>T) c.27-48G>T (n.27-48G>T) | gnomAD v4 |
2 | g.31533814C>G | CA2658499322 | SRD5A2 | c.282-48G>C (n.282-48G>C) c.60-48G>C (n.60-48G>C) c.27-48G>C (n.27-48G>C) | gnomAD v4 |
2 | g.31533815A= | CA1242199399 | SRD5A2 | c.282-49T= (n.282-49T=) c.60-49T= (n.60-49T=) c.27-49T= (n.27-49T=) | |
2 | g.31533815A>G | CA45136789 | SRD5A2 | c.282-49T>C (n.282-49T>C) c.60-49T>C (n.60-49T>C) c.27-49T>C (n.27-49T>C) | dbSNP gnomAD v4 |
2 | g.31533816T>A | CA2658499324 | SRD5A2 | c.282-50A>T (n.282-50A>T) c.60-50A>T (n.60-50A>T) c.27-50A>T (n.27-50A>T) | gnomAD v4 |
2 | g.31533816T>C | CA1599977 | SRD5A2 | c.282-50A>G (n.282-50A>G) c.60-50A>G (n.60-50A>G) c.27-50A>G (n.27-50A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533816T= | CA1242199400 | SRD5A2 | c.282-50A= (n.282-50A=) c.60-50A= (n.60-50A=) c.27-50A= (n.27-50A=) | |
2 | g.31533817G>A | CA2576929428 | SRD5A2 | c.282-51C>T (n.282-51C>T) c.60-51C>T (n.60-51C>T) c.27-51C>T (n.27-51C>T) | gnomAD v4 |
2 | g.31533817G>T | CA2658499326 | SRD5A2 | c.282-51C>A (n.282-51C>A) c.60-51C>A (n.60-51C>A) c.27-51C>A (n.27-51C>A) | gnomAD v4 |
2 | g.31533818G>C | CA1028957230 | SRD5A2 | c.282-52C>G (n.282-52C>G) c.60-52C>G (n.60-52C>G) c.27-52C>G (n.27-52C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.31533818G= | CA1242199401 | SRD5A2 | c.282-52C= (n.282-52C=) c.60-52C= (n.60-52C=) c.27-52C= (n.27-52C=) | |
2 | g.31533818G>T | CA2658499328 | SRD5A2 | c.282-52C>A (n.282-52C>A) c.60-52C>A (n.60-52C>A) c.27-52C>A (n.27-52C>A) | gnomAD v4 |
2 | g.31533819T>A | CA1242199403 | SRD5A2 | c.282-53A>T (n.282-53A>T) c.60-53A>T (n.60-53A>T) c.27-53A>T (n.27-53A>T) | dbSNP |
2 | g.31533819T>C | CA2658499333 | SRD5A2 | c.282-53A>G (n.282-53A>G) c.60-53A>G (n.60-53A>G) c.27-53A>G (n.27-53A>G) | gnomAD v4 |
2 | g.31533819T= | CA1242199402 | SRD5A2 | c.282-53A= (n.282-53A=) c.60-53A= (n.60-53A=) c.27-53A= (n.27-53A=) | |
2 | g.31533821_31533822del | CA2658499331 | SRD5A2 | c.282-54_282-53del (n.282-54_282-53del) c.60-54_60-53del (n.60-54_60-53del) c.27-54_27-53del (n.27-54_27-53del) | gnomAD v4 |
2 | g.31533820C>A | CA1242199405 | SRD5A2 | c.282-54G>T (n.282-54G>T) c.60-54G>T (n.60-54G>T) c.27-54G>T (n.27-54G>T) | dbSNP gnomAD v4 |
2 | g.31533820C= | CA1242199404 | SRD5A2 | c.282-54G= (n.282-54G=) c.60-54G= (n.60-54G=) c.27-54G= (n.27-54G=) | |
2 | g.31533820C>G | CA45136790 | SRD5A2 | c.282-54G>C (n.282-54G>C) c.60-54G>C (n.60-54G>C) c.27-54G>C (n.27-54G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533821T>G | CA45136791 | SRD5A2 | c.282-55A>C (n.282-55A>C) c.60-55A>C (n.60-55A>C) c.27-55A>C (n.27-55A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.31533821T= | CA1242199406 | SRD5A2 | c.282-55A= (n.282-55A=) c.60-55A= (n.60-55A=) c.27-55A= (n.27-55A=) | |
2 | g.31533822C>A | CA2576929429 | SRD5A2 | c.282-56G>T (n.282-56G>T) c.60-56G>T (n.60-56G>T) c.27-56G>T (n.27-56G>T) | gnomAD v4 |
2 | g.31533822C>T | CA2562720472 | SRD5A2 | c.282-56G>A (n.282-56G>A) c.60-56G>A (n.60-56G>A) c.27-56G>A (n.27-56G>A) | gnomAD v4 |
2 | g.31533823A>C | CA2658499337 | SRD5A2 | c.282-57T>G (n.282-57T>G) c.60-57T>G (n.60-57T>G) c.27-57T>G (n.27-57T>G) | gnomAD v4 |
2 | g.31533823A>G | CA2576929430 | SRD5A2 | c.282-57T>C (n.282-57T>C) c.60-57T>C (n.60-57T>C) c.27-57T>C (n.27-57T>C) | gnomAD v4 |
2 | g.31533825C>A | CA2658499338 | SRD5A2 | c.282-59G>T (n.282-59G>T) c.60-59G>T (n.60-59G>T) c.27-59G>T (n.27-59G>T) | gnomAD v4 |
2 | g.31533825C>T | CA2658499339 | SRD5A2 | c.282-59G>A (n.282-59G>A) c.60-59G>A (n.60-59G>A) c.27-59G>A (n.27-59G>A) | gnomAD v4 |
2 | g.31533826C>A | CA2658499340 | SRD5A2 | c.282-60G>T (n.282-60G>T) c.60-60G>T (n.60-60G>T) c.27-60G>T (n.27-60G>T) | gnomAD v4 |
2 | g.31533826C>T | CA2658499341 | SRD5A2 | c.282-60G>A (n.282-60G>A) c.60-60G>A (n.60-60G>A) c.27-60G>A (n.27-60G>A) | gnomAD v4 |