UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119030528_119030551del | CA2611121675 | NANOS1 | c.727_750del (p.Val243_Pro250del) c.103_126del (p.Val35_Pro42del) | gnomAD v4 |
| 10 | g.119030532_119030612del | CA2789688094 | NANOS1 | c.731_811del (p.Leu244_Val270del) c.107_187del (p.Leu36_Val62del) | |
| 10 | g.119030538G>A | CA358600 | NANOS1 | c.737G>A (p.Arg246His) c.113G>A (p.Arg38His) | dbSNP gnomAD v4 |
| 10 | g.[119030538G>A;119030627_119030628delinsTA] | CA358604 | NANOS1 | c.[737G>A;826_827delinsTA] (p.[Arg246His;Arg276Tyr]) c.[113G>A;202_203delinsTA] (p.[Arg38His;Arg68Tyr]) | |
| 10 | g.119030538G>C | CA378273378 | NANOS1 | c.737G>C (p.Arg246Pro) c.113G>C (p.Arg38Pro) | gnomAD v4 |
| 10 | g.119030538G= | CA1939897174 | NANOS1 | c.737G= (p.Arg246=) c.113G= (p.Arg38=) | |
| 10 | g.119030538G>T | CA378273375 | NANOS1 | c.737G>T (p.Arg246Leu) c.113G>T (p.Arg38Leu) | gnomAD v4 |
| 10 | g.119030539C>A | CA471738360 | NANOS1 | c.738C>A (p.Arg246=) c.114C>A (p.Arg38=) | gnomAD v4 |
| 10 | g.119030539C>G | CA471738361 | NANOS1 | c.738C>G (p.Arg246=) c.114C>G (p.Arg38=) | gnomAD v4 |
| 10 | g.119030539C>T | CA471738358 | NANOS1 | c.738C>T (p.Arg246=) c.114C>T (p.Arg38=) | gnomAD v4 |
| 10 | g.119030540T>A | CA378273380 | NANOS1 | c.739T>A (p.Tyr247Asn) c.115T>A (p.Tyr39Asn) | |
| 10 | g.119030540T>C | CA378273383 | NANOS1 | c.739T>C (p.Tyr247His) c.115T>C (p.Tyr39His) | gnomAD v4 |
| 10 | g.119030540T>G | CA378273381 | NANOS1 | c.739T>G (p.Tyr247Asp) c.115T>G (p.Tyr39Asp) | |
| 10 | g.119030541A= | CA1939897175 | NANOS1 | c.740A= (p.Tyr247=) c.116A= (p.Tyr39=) | |
| 10 | g.119030541A>C | CA378273384 | NANOS1 | c.740A>C (p.Tyr247Ser) c.116A>C (p.Tyr39Ser) | |
| 10 | g.119030541A>G | CA5712812 | NANOS1 | c.740A>G (p.Tyr247Cys) c.116A>G (p.Tyr39Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030541A>T | CA378273386 | NANOS1 | c.740A>T (p.Tyr247Phe) c.116A>T (p.Tyr39Phe) | gnomAD v4 |
| 10 | g.119030543_119030544del | CA2611121682 | NANOS1 | c.742_743del (p.Thr248ValfsTer?) c.118_119del (p.Thr40ValfsTer?) | gnomAD v4 |
| 10 | g.119030542C>A | CA378273388 | NANOS1 | c.741C>A (p.Tyr247Ter) c.117C>A (p.Tyr39Ter) | gnomAD v4 |
| 10 | g.119030542C>G | CA378273390 | NANOS1 | c.741C>G (p.Tyr247Ter) c.117C>G (p.Tyr39Ter) | |
| 10 | g.119030542C>T | CA471738365 | NANOS1 | c.741C>T (p.Tyr247=) c.117C>T (p.Tyr39=) | gnomAD v4 |
| 10 | g.119030543A>C | CA378273393 | NANOS1 | c.742A>C (p.Thr248Pro) c.118A>C (p.Thr40Pro) | |
| 10 | g.119030543A>G | CA378273397 | NANOS1 | c.742A>G (p.Thr248Ala) c.118A>G (p.Thr40Ala) | gnomAD v4 |
| 10 | g.119030543A>T | CA378273398 | NANOS1 | c.742A>T (p.Thr248Ser) c.118A>T (p.Thr40Ser) | gnomAD v4 |
| 10 | g.119030544C>A | CA378273406 | NANOS1 | c.743C>A (p.Thr248Lys) c.119C>A (p.Thr40Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030544C= | CA1939897176 | NANOS1 | c.743C= (p.Thr248=) c.119C= (p.Thr40=) | |
| 10 | g.119030544C>G | CA5712815 | NANOS1 | c.743C>G (p.Thr248Arg) c.119C>G (p.Thr40Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030544C>T | CA5712814 | NANOS1 | c.743C>T (p.Thr248Met) c.119C>T (p.Thr40Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030545G>A | CA471738374 | NANOS1 | c.744G>A (p.Thr248=) c.120G>A (p.Thr40=) | gnomAD v4 |
| 10 | g.119030545G>C | CA471738372 | NANOS1 | c.744G>C (p.Thr248=) c.120G>C (p.Thr40=) | dbSNP gnomAD v4 |
| 10 | g.119030545G= | CA1939897177 | NANOS1 | c.744G= (p.Thr248=) c.120G= (p.Thr40=) | |
| 10 | g.119030545G>T | CA471738371 | NANOS1 | c.744G>T (p.Thr248=) c.120G>T (p.Thr40=) | dbSNP gnomAD v4 |
| 10 | g.119030545_119030546insGCGAGTGCTG | CA5712813 | NANOS1 | c.744_745insGCGAGTGCTG (p.Cys249AlafsTer?) c.120_121insGCGAGTGCTG (p.Cys41AlafsTer?) | dbSNP ExAC gnomAD v2 |
| 10 | g.119030546T>A | CA378273412 | NANOS1 | c.745T>A (p.Cys249Ser) c.121T>A (p.Cys41Ser) | |
| 10 | g.119030546T>C | CA378273410 | NANOS1 | c.745T>C (p.Cys249Arg) c.121T>C (p.Cys41Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030546T>G | CA378273411 | NANOS1 | c.745T>G (p.Cys249Gly) c.121T>G (p.Cys41Gly) | gnomAD v4 |
| 10 | g.119030546dup | CA2789688096 | NANOS1 | c.745dup (p.Cys249LeufsTer?) c.121dup (p.Cys41LeufsTer?) | |
| 10 | g.119030547G>A | CA378273413 | NANOS1 | c.746G>A (p.Cys249Tyr) c.122G>A (p.Cys41Tyr) | gnomAD v4 |
| 10 | g.119030547G>C | CA378273414 | NANOS1 | c.746G>C (p.Cys249Ser) c.122G>C (p.Cys41Ser) | gnomAD v4 |
| 10 | g.119030547G= | CA1939897178 | NANOS1 | c.746G= (p.Cys249=) c.122G= (p.Cys41=) | |
| 10 | g.119030547G>T | CA378273416 | NANOS1 | c.746G>T (p.Cys249Phe) c.122G>T (p.Cys41Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030548del | CA2611121696 | NANOS1 | c.747del (p.Leu251CysfsTer?) c.123del (p.Leu43CysfsTer?) | gnomAD v4 |
| 10 | g.119030548T>A | CA378273417 | NANOS1 | c.747T>A (p.Cys249Ter) c.123T>A (p.Cys41Ter) | |
| 10 | g.119030548T>C | CA5712816 | NANOS1 | c.747T>C (p.Cys249=) c.123T>C (p.Cys41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030548T>G | CA378273418 | NANOS1 | c.747T>G (p.Cys249Trp) c.123T>G (p.Cys41Trp) | |
| 10 | g.119030548T= | CA1939897179 | NANOS1 | c.747T= (p.Cys249=) c.123T= (p.Cys41=) | |
| 10 | g.119030549C>A | CA378273419 | NANOS1 | c.748C>A (p.Pro250Thr) c.124C>A (p.Pro42Thr) | gnomAD v4 |
| 10 | g.119030549C>G | CA378273421 | NANOS1 | c.748C>G (p.Pro250Ala) c.124C>G (p.Pro42Ala) | gnomAD v4 |
| 10 | g.119030549C>T | CA378273422 | NANOS1 | c.748C>T (p.Pro250Ser) c.124C>T (p.Pro42Ser) | gnomAD v4 |
| 10 | g.119030552dup | CA2611121698 | NANOS1 | c.751dup (p.Leu251ProfsTer?) c.127dup (p.Leu43ProfsTer?) | gnomAD v4 |
| 10 | g.119030552del | CA2611121699 | NANOS1 | c.751del (p.Leu251CysfsTer?) c.127del (p.Leu43CysfsTer?) | gnomAD v4 |
| 10 | g.119030550C>A | CA378273423 | NANOS1 | c.749C>A (p.Pro250His) c.125C>A (p.Pro42His) | gnomAD v4 |
| 10 | g.119030550C= | CA1939897180 | NANOS1 | c.749C= (p.Pro250=) c.125C= (p.Pro42=) | |
| 10 | g.119030550C>G | CA378273425 | NANOS1 | c.749C>G (p.Pro250Arg) c.125C>G (p.Pro42Arg) | gnomAD v4 |
| 10 | g.119030550C>T | CA378273428 | NANOS1 | c.749C>T (p.Pro250Leu) c.125C>T (p.Pro42Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030551C>A | CA471738377 | NANOS1 | c.750C>A (p.Pro250=) c.126C>A (p.Pro42=) | gnomAD v4 |
| 10 | g.119030551C>G | CA471738378 | NANOS1 | c.750C>G (p.Pro250=) c.126C>G (p.Pro42=) | |
| 10 | g.119030551C>T | CA471738379 | NANOS1 | c.750C>T (p.Pro250=) c.126C>T (p.Pro42=) | gnomAD v4 |
| 10 | g.119030552C>A | CA378273432 | NANOS1 | c.751C>A (p.Leu251Met) c.127C>A (p.Leu43Met) | gnomAD v4 |
| 10 | g.119030552C= | CA1939897181 | NANOS1 | c.751C= (p.Leu251=) c.127C= (p.Leu43=) | |
| 10 | g.119030552C>G | CA378273430 | NANOS1 | c.751C>G (p.Leu251Val) c.127C>G (p.Leu43Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030552C>T | CA471626758 | NANOS1 | c.751C>T (p.Leu251=) c.127C>T (p.Leu43=) | gnomAD v4 |
| 10 | g.119030552_119030553insA | CA2611121702 | NANOS1 | c.751_752insA (p.Leu251HisfsTer?) c.127_128insA (p.Leu43HisfsTer?) | gnomAD v4 |
| 10 | g.119030553T>A | CA378273436 | NANOS1 | c.752T>A (p.Leu251Gln) c.128T>A (p.Leu43Gln) | dbSNP |
| 10 | g.119030553T>C | CA378273438 | NANOS1 | c.752T>C (p.Leu251Pro) c.128T>C (p.Leu43Pro) | gnomAD v4 |
| 10 | g.119030553T>G | CA378273441 | NANOS1 | c.752T>G (p.Leu251Arg) c.128T>G (p.Leu43Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030553T= | CA1939897182 | NANOS1 | c.752T= (p.Leu251=) c.128T= (p.Leu43=) | |
| 10 | g.119030554G>A | CA471626763 | NANOS1 | c.753G>A (p.Leu251=) c.129G>A (p.Leu43=) | gnomAD v4 |
| 10 | g.119030554G>C | CA471626764 | NANOS1 | c.753G>C (p.Leu251=) c.129G>C (p.Leu43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030554G= | CA1939897183 | NANOS1 | c.753G= (p.Leu251=) c.129G= (p.Leu43=) | |
| 10 | g.119030554G>T | CA471626765 | NANOS1 | c.753G>T (p.Leu251=) c.129G>T (p.Leu43=) | gnomAD v4 |
| 10 | g.119030555T>A | CA378273442 | NANOS1 | c.754T>A (p.Cys252Ser) c.130T>A (p.Cys44Ser) | gnomAD v4 |
| 10 | g.119030555T>C | CA378273454 | NANOS1 | c.754T>C (p.Cys252Arg) c.130T>C (p.Cys44Arg) | gnomAD v4 |
| 10 | g.119030555T>G | CA378273457 | NANOS1 | c.754T>G (p.Cys252Gly) c.130T>G (p.Cys44Gly) | |
| 10 | g.119030555_119030564delinsTGCGGCGCCA | CA1939897184 | NANOS1 | c.754_763delinsTGCGGCGCCA (p.Cys252=) c.130_139delinsTGCGGCGCCA (p.Cys44=) | |
| 10 | g.119030556G>A | CA378273471 | NANOS1 | c.755G>A (p.Cys252Tyr) c.131G>A (p.Cys44Tyr) | gnomAD v4 |
| 10 | g.119030556G>C | CA378273469 | NANOS1 | c.755G>C (p.Cys252Ser) c.131G>C (p.Cys44Ser) | |
| 10 | g.119030556G>T | CA378273464 | NANOS1 | c.755G>T (p.Cys252Phe) c.131G>T (p.Cys44Phe) | gnomAD v4 |
| 10 | g.119030562_119030570del | CA5712817 | NANOS1 | c.761_769del (p.Ala254_Gly256del) c.137_145del (p.Ala46_Gly48del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030557C>A | CA378273474 | NANOS1 | c.756C>A (p.Cys252Ter) c.132C>A (p.Cys44Ter) | gnomAD v4 |
| 10 | g.119030557C= | CA1939897185 | NANOS1 | c.756C= (p.Cys252=) c.132C= (p.Cys44=) | |
| 10 | g.119030557C>G | CA378273475 | NANOS1 | c.756C>G (p.Cys252Trp) c.132C>G (p.Cys44Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030557C>T | CA471626773 | NANOS1 | c.756C>T (p.Cys252=) c.132C>T (p.Cys44=) | dbSNP gnomAD v4 |
| 10 | g.119030558G>A | CA378273476 | NANOS1 | c.757G>A (p.Gly253Ser) c.133G>A (p.Gly45Ser) | gnomAD v4 COSMIC |
| 10 | g.119030558G>C | CA378273477 | NANOS1 | c.757G>C (p.Gly253Arg) c.133G>C (p.Gly45Arg) | |
| 10 | g.119030558G>T | CA378273479 | NANOS1 | c.757G>T (p.Gly253Cys) c.133G>T (p.Gly45Cys) | gnomAD v4 |
| 10 | g.119030559G>A | CA378273481 | NANOS1 | c.758G>A (p.Gly253Asp) c.134G>A (p.Gly45Asp) | gnomAD v4 |
| 10 | g.119030559G>C | CA378273494 | NANOS1 | c.758G>C (p.Gly253Ala) c.134G>C (p.Gly45Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030559G= | CA1939897186 | NANOS1 | c.758G= (p.Gly253=) c.134G= (p.Gly45=) | |
| 10 | g.119030559G>T | CA378273483 | NANOS1 | c.758G>T (p.Gly253Val) c.134G>T (p.Gly45Val) | gnomAD v4 |
| 10 | g.119030560C>A | CA471626783 | NANOS1 | c.759C>A (p.Gly253=) c.135C>A (p.Gly45=) | gnomAD v4 |
| 10 | g.119030560C= | CA1939897187 | NANOS1 | c.759C= (p.Gly253=) c.135C= (p.Gly45=) | |
| 10 | g.119030560C>G | CA471626786 | NANOS1 | c.759C>G (p.Gly253=) c.135C>G (p.Gly45=) | |
| 10 | g.119030560C>T | CA471626784 | NANOS1 | c.759C>T (p.Gly253=) c.135C>T (p.Gly45=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030561G>A | CA378273497 | NANOS1 | c.760G>A (p.Ala254Thr) c.136G>A (p.Ala46Thr) | gnomAD v4 |
| 10 | g.119030561G>C | CA378273499 | NANOS1 | c.760G>C (p.Ala254Pro) c.136G>C (p.Ala46Pro) | gnomAD v4 |
| 10 | g.119030561G= | CA1939897188 | NANOS1 | c.760G= (p.Ala254=) c.136G= (p.Ala46=) | |
| 10 | g.119030561G>T | CA378273500 | NANOS1 | c.760G>T (p.Ala254Ser) c.136G>T (p.Ala46Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030562C>A | CA378273502 | NANOS1 | c.761C>A (p.Ala254Asp) c.137C>A (p.Ala46Asp) | gnomAD v4 |
| 10 | g.119030562C>G | CA378273507 | NANOS1 | c.761C>G (p.Ala254Gly) c.137C>G (p.Ala46Gly) | |
| 10 | g.119030562C>T | CA378273510 | NANOS1 | c.761C>T (p.Ala254Val) c.137C>T (p.Ala46Val) | gnomAD v4 |
| 10 | g.119030563C>A | CA471626794 | NANOS1 | c.762C>A (p.Ala254=) c.138C>A (p.Ala46=) | gnomAD v4 |
| 10 | g.119030563C= | CA1939897189 | NANOS1 | c.762C= (p.Ala254=) c.138C= (p.Ala46=) | |
| 10 | g.119030563C>G | CA471626793 | NANOS1 | c.762C>G (p.Ala254=) c.138C>G (p.Ala46=) | |
| 10 | g.119030563C>T | CA471626791 | NANOS1 | c.762C>T (p.Ala254=) c.138C>T (p.Ala46=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030564A>C | CA378273513 | NANOS1 | c.763A>C (p.Ser255Arg) c.139A>C (p.Ser47Arg) | gnomAD v4 |
| 10 | g.119030564A>G | CA378273514 | NANOS1 | c.763A>G (p.Ser255Gly) c.139A>G (p.Ser47Gly) | gnomAD v4 |
| 10 | g.119030564A>T | CA378273515 | NANOS1 | c.763A>T (p.Ser255Cys) c.139A>T (p.Ser47Cys) | gnomAD v4 |
| 10 | g.119030565G>A | CA378273516 | NANOS1 | c.764G>A (p.Ser255Asn) c.140G>A (p.Ser47Asn) | |
| 10 | g.119030565G>C | CA5712818 | NANOS1 | c.764G>C (p.Ser255Thr) c.140G>C (p.Ser47Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030565G= | CA1939897190 | NANOS1 | c.764G= (p.Ser255=) c.140G= (p.Ser47=) | |
| 10 | g.119030565G>T | CA378273517 | NANOS1 | c.764G>T (p.Ser255Ile) c.140G>T (p.Ser47Ile) | gnomAD v4 |
| 10 | g.119030566del | CA2611121719 | NANOS1 | c.765del (p.Ser255ArgfsTer?) c.141del (p.Ser47ArgfsTer?) | gnomAD v4 |
| 10 | g.119030566C>A | CA378273522 | NANOS1 | c.765C>A (p.Ser255Arg) c.141C>A (p.Ser47Arg) | gnomAD v4 |
| 10 | g.119030566C= | CA1939897191 | NANOS1 | c.765C= (p.Ser255=) c.141C= (p.Ser47=) | |
| 10 | g.119030566C>G | CA378273519 | NANOS1 | c.765C>G (p.Ser255Arg) c.141C>G (p.Ser47Arg) | dbSNP gnomAD v4 |
| 10 | g.119030566C>T | CA471626801 | NANOS1 | c.765C>T (p.Ser255=) c.141C>T (p.Ser47=) | gnomAD v4 |
| 10 | g.119030567G>A | CA378273524 | NANOS1 | c.766G>A (p.Gly256Ser) c.142G>A (p.Gly48Ser) | gnomAD v4 |
| 10 | g.119030567G>C | CA378273526 | NANOS1 | c.766G>C (p.Gly256Arg) c.142G>C (p.Gly48Arg) | gnomAD v4 |
| 10 | g.119030567G>T | CA378273525 | NANOS1 | c.766G>T (p.Gly256Cys) c.142G>T (p.Gly48Cys) | gnomAD v4 |
| 10 | g.119030568G>A | CA378273528 | NANOS1 | c.767G>A (p.Gly256Asp) c.143G>A (p.Gly48Asp) | gnomAD v4 |
| 10 | g.119030568G>C | CA378273537 | NANOS1 | c.767G>C (p.Gly256Ala) c.143G>C (p.Gly48Ala) | |
| 10 | g.119030568G>T | CA378273531 | NANOS1 | c.767G>T (p.Gly256Val) c.143G>T (p.Gly48Val) | gnomAD v4 |
| 10 | g.119030569C>A | CA471626809 | NANOS1 | c.768C>A (p.Gly256=) c.144C>A (p.Gly48=) | gnomAD v4 |
| 10 | g.119030569C= | CA1939897192 | NANOS1 | c.768C= (p.Gly256=) c.144C= (p.Gly48=) | |
| 10 | g.119030569C>G | CA471626810 | NANOS1 | c.768C>G (p.Gly256=) c.144C>G (p.Gly48=) | gnomAD v4 |
| 10 | g.119030569C>T | CA5712819 | NANOS1 | c.768C>T (p.Gly256=) c.144C>T (p.Gly48=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030570G>A | CA378273539 | NANOS1 | c.769G>A (p.Asp257Asn) c.145G>A (p.Asp49Asn) | gnomAD v4 |
| 10 | g.119030570G>C | CA378273540 | NANOS1 | c.769G>C (p.Asp257His) c.145G>C (p.Asp49His) | |
| 10 | g.119030570G>T | CA378273541 | NANOS1 | c.769G>T (p.Asp257Tyr) c.145G>T (p.Asp49Tyr) | gnomAD v4 |
| 10 | g.119030571A>C | CA378273542 | NANOS1 | c.770A>C (p.Asp257Ala) c.146A>C (p.Asp49Ala) | |
| 10 | g.119030571A>G | CA378273545 | NANOS1 | c.770A>G (p.Asp257Gly) c.146A>G (p.Asp49Gly) | gnomAD v4 |
| 10 | g.119030571A>T | CA378273547 | NANOS1 | c.770A>T (p.Asp257Val) c.146A>T (p.Asp49Val) | |
| 10 | g.119030572C>A | CA378273555 | NANOS1 | c.771C>A (p.Asp257Glu) c.147C>A (p.Asp49Glu) | gnomAD v4 |
| 10 | g.119030572C>G | CA378273550 | NANOS1 | c.771C>G (p.Asp257Glu) c.147C>G (p.Asp49Glu) | |
| 10 | g.119030572C>T | CA471626815 | NANOS1 | c.771C>T (p.Asp257=) c.147C>T (p.Asp49=) | gnomAD v4 |
| 10 | g.119030573A>C | CA378273558 | NANOS1 | c.772A>C (p.Asn258His) c.148A>C (p.Asn50His) | |
| 10 | g.119030573A>G | CA378273560 | NANOS1 | c.772A>G (p.Asn258Asp) c.148A>G (p.Asn50Asp) | gnomAD v4 |
| 10 | g.119030573A>T | CA378273562 | NANOS1 | c.772A>T (p.Asn258Tyr) c.148A>T (p.Asn50Tyr) | |
| 10 | g.119030574A>C | CA378273565 | NANOS1 | c.773A>C (p.Asn258Thr) c.149A>C (p.Asn50Thr) | |
| 10 | g.119030574A>G | CA378273567 | NANOS1 | c.773A>G (p.Asn258Ser) c.149A>G (p.Asn50Ser) | gnomAD v4 |
| 10 | g.119030574A>T | CA378273569 | NANOS1 | c.773A>T (p.Asn258Ile) c.149A>T (p.Asn50Ile) | |
| 10 | g.119030575C>A | CA378273574 | NANOS1 | c.774C>A (p.Asn258Lys) c.150C>A (p.Asn50Lys) | gnomAD v4 |
| 10 | g.119030575C= | CA1939897193 | NANOS1 | c.774C= (p.Asn258=) c.150C= (p.Asn50=) | |
| 10 | g.119030575C>G | CA378273570 | NANOS1 | c.774C>G (p.Asn258Lys) c.150C>G (p.Asn50Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030575C>T | CA5712820 | NANOS1 | c.774C>T (p.Asn258=) c.150C>T (p.Asn50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030576G>A | CA378273576 | NANOS1 | c.775G>A (p.Ala259Thr) c.151G>A (p.Ala51Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030576G>C | CA378273578 | NANOS1 | c.775G>C (p.Ala259Pro) c.151G>C (p.Ala51Pro) | |
| 10 | g.119030576G= | CA1939897194 | NANOS1 | c.775G= (p.Ala259=) c.151G= (p.Ala51=) | |
| 10 | g.119030576G>T | CA378273582 | NANOS1 | c.775G>T (p.Ala259Ser) c.151G>T (p.Ala51Ser) | gnomAD v4 |
| 10 | g.119030577C>A | CA378273584 | NANOS1 | c.776C>A (p.Ala259Glu) c.152C>A (p.Ala51Glu) | gnomAD v4 |
| 10 | g.119030577C= | CA1939897195 | NANOS1 | c.776C= (p.Ala259=) c.152C= (p.Ala51=) | |
| 10 | g.119030577C>G | CA378273588 | NANOS1 | c.776C>G (p.Ala259Gly) c.152C>G (p.Ala51Gly) | gnomAD v4 |
| 10 | g.119030577C>T | CA378273590 | NANOS1 | c.776C>T (p.Ala259Val) c.152C>T (p.Ala51Val) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119030578G>A | CA471626827 | NANOS1 | c.777G>A (p.Ala259=) c.153G>A (p.Ala51=) | gnomAD v4 |
| 10 | g.119030578G>C | CA471626828 | NANOS1 | c.777G>C (p.Ala259=) c.153G>C (p.Ala51=) | |
| 10 | g.119030578G>T | CA471626830 | NANOS1 | c.777G>T (p.Ala259=) c.153G>T (p.Ala51=) | gnomAD v4 |
| 10 | g.119030579C>A | CA378273597 | NANOS1 | c.778C>A (p.His260Asn) c.154C>A (p.His52Asn) | gnomAD v4 |
| 10 | g.119030579C>G | CA378273594 | NANOS1 | c.778C>G (p.His260Asp) c.154C>G (p.His52Asp) | |
| 10 | g.119030579C>T | CA378273596 | NANOS1 | c.778C>T (p.His260Tyr) c.154C>T (p.His52Tyr) | gnomAD v4 |
| 10 | g.119030580A>C | CA378273598 | NANOS1 | c.779A>C (p.His260Pro) c.155A>C (p.His52Pro) | |
| 10 | g.119030580A>G | CA378273599 | NANOS1 | c.779A>G (p.His260Arg) c.155A>G (p.His52Arg) | gnomAD v4 |
| 10 | g.119030580A>T | CA378273600 | NANOS1 | c.779A>T (p.His260Leu) c.155A>T (p.His52Leu) | |
| 10 | g.119030581C>A | CA378273601 | NANOS1 | c.780C>A (p.His260Gln) c.156C>A (p.His52Gln) | gnomAD v4 |
| 10 | g.119030581C= | CA1939897196 | NANOS1 | c.780C= (p.His260=) c.156C= (p.His52=) | |
| 10 | g.119030581C>G | CA378273603 | NANOS1 | c.780C>G (p.His260Gln) c.156C>G (p.His52Gln) | gnomAD v4 |
| 10 | g.119030581C>T | CA471626836 | NANOS1 | c.780C>T (p.His260=) c.156C>T (p.His52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030582A>C | CA378273606 | NANOS1 | c.781A>C (p.Thr261Pro) c.157A>C (p.Thr53Pro) | gnomAD v4 |
| 10 | g.119030582A>G | CA378273609 | NANOS1 | c.781A>G (p.Thr261Ala) c.157A>G (p.Thr53Ala) | gnomAD v4 |
| 10 | g.119030582A>T | CA378273607 | NANOS1 | c.781A>T (p.Thr261Ser) c.157A>T (p.Thr53Ser) | |
| 10 | g.119030582_119030583insT | CA2611121729 | NANOS1 | c.781_782insT (p.Thr261IlefsTer?) c.157_158insT (p.Thr53IlefsTer?) | gnomAD v4 |
| 10 | g.119030583C>A | CA378273610 | NANOS1 | c.782C>A (p.Thr261Asn) c.158C>A (p.Thr53Asn) | gnomAD v4 |
| 10 | g.119030583C>G | CA378273614 | NANOS1 | c.782C>G (p.Thr261Ser) c.158C>G (p.Thr53Ser) | gnomAD v4 |
| 10 | g.119030583C>T | CA378273615 | NANOS1 | c.782C>T (p.Thr261Ile) c.158C>T (p.Thr53Ile) | gnomAD v4 |
| 10 | g.119030584C>A | CA471626844 | NANOS1 | c.783C>A (p.Thr261=) c.159C>A (p.Thr53=) | gnomAD v4 |
| 10 | g.119030584C= | CA1939897197 | NANOS1 | c.783C= (p.Thr261=) c.159C= (p.Thr53=) | |
| 10 | g.119030584C>G | CA471626846 | NANOS1 | c.783C>G (p.Thr261=) c.159C>G (p.Thr53=) | |
| 10 | g.119030584C>T | CA5712821 | NANOS1 | c.783C>T (p.Thr261=) c.159C>T (p.Thr53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030586_119030588del | CA2789688100 | NANOS1 | c.785_787del (p.Ile262del) c.161_163del (p.Ile54del) | |
| 10 | g.119030585A= | CA1939897198 | NANOS1 | c.784A= (p.Ile262=) c.160A= (p.Ile54=) | |
| 10 | g.119030585A>C | CA378273617 | NANOS1 | c.784A>C (p.Ile262Leu) c.160A>C (p.Ile54Leu) | |
| 10 | g.119030585A>G | CA5712822 | NANOS1 | c.784A>G (p.Ile262Val) c.160A>G (p.Ile54Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030585A>T | CA378273618 | NANOS1 | c.784A>T (p.Ile262Phe) c.160A>T (p.Ile54Phe) | dbSNP |
| 10 | g.119030586T>A | CA378273621 | NANOS1 | c.785T>A (p.Ile262Asn) c.161T>A (p.Ile54Asn) | |
| 10 | g.119030586T>C | CA378273623 | NANOS1 | c.785T>C (p.Ile262Thr) c.161T>C (p.Ile54Thr) | gnomAD v4 |
| 10 | g.119030586T>G | CA378273624 | NANOS1 | c.785T>G (p.Ile262Ser) c.161T>G (p.Ile54Ser) | |
| 10 | g.119030587C>A | CA471626852 | NANOS1 | c.786C>A (p.Ile262=) c.162C>A (p.Ile54=) | gnomAD v4 |
| 10 | g.119030587C= | CA1939897199 | NANOS1 | c.786C= (p.Ile262=) c.162C= (p.Ile54=) | |
| 10 | g.119030587C>G | CA378273627 | NANOS1 | c.786C>G (p.Ile262Met) c.162C>G (p.Ile54Met) | gnomAD v4 |
| 10 | g.119030587C>T | CA5712823 | NANOS1 | c.786C>T (p.Ile262=) c.162C>T (p.Ile54=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030588A>C | CA378273629 | NANOS1 | c.787A>C (p.Lys263Gln) c.163A>C (p.Lys55Gln) | |
| 10 | g.119030588A>G | CA378273630 | NANOS1 | c.787A>G (p.Lys263Glu) c.163A>G (p.Lys55Glu) | gnomAD v4 |
| 10 | g.119030588A>T | CA378273628 | NANOS1 | c.787A>T (p.Lys263Ter) c.163A>T (p.Lys55Ter) | gnomAD v4 |
| 10 | g.119030589del | CA2789688101 | NANOS1 | c.788del (p.Lys263SerfsTer?) c.164del (p.Lys55SerfsTer?) | |
| 10 | g.119030589_119030592dup | CA2611121731 | NANOS1 | c.788_791dup (p.Tyr264Ter) c.164_167dup (p.Tyr56Ter) | gnomAD v4 |
| 10 | g.119030589A>C | CA378273633 | NANOS1 | c.788A>C (p.Lys263Thr) c.164A>C (p.Lys55Thr) | |
| 10 | g.119030589A>G | CA378273635 | NANOS1 | c.788A>G (p.Lys263Arg) c.164A>G (p.Lys55Arg) | gnomAD v4 |
| 10 | g.119030589A>T | CA378273638 | NANOS1 | c.788A>T (p.Lys263Met) c.164A>T (p.Lys55Met) | |
| 10 | g.119030590G>A | CA471626860 | NANOS1 | c.789G>A (p.Lys263=) c.165G>A (p.Lys55=) | gnomAD v4 |
| 10 | g.119030590G>C | CA378273642 | NANOS1 | c.789G>C (p.Lys263Asn) c.165G>C (p.Lys55Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030590G= | CA1939897200 | NANOS1 | c.789G= (p.Lys263=) c.165G= (p.Lys55=) | |
| 10 | g.119030590G>T | CA378273645 | NANOS1 | c.789G>T (p.Lys263Asn) c.165G>T (p.Lys55Asn) | gnomAD v4 |
| 10 | g.119030590_119030599del | CA2611121732 | NANOS1 | c.789_798del (p.Lys263AsnfsTer?) c.165_174del (p.Lys55AsnfsTer?) | gnomAD v4 |
| 10 | g.119030591T>A | CA378273657 | NANOS1 | c.790T>A (p.Tyr264Asn) c.166T>A (p.Tyr56Asn) | |
| 10 | g.119030591T>C | CA378273648 | NANOS1 | c.790T>C (p.Tyr264His) c.166T>C (p.Tyr56His) | gnomAD v4 |
| 10 | g.119030591T>G | CA378273655 | NANOS1 | c.790T>G (p.Tyr264Asp) c.166T>G (p.Tyr56Asp) | |
| 10 | g.119030592A= | CA1939897201 | NANOS1 | c.791A= (p.Tyr264=) c.167A= (p.Tyr56=) | |
| 10 | g.119030592A>C | CA378273659 | NANOS1 | c.791A>C (p.Tyr264Ser) c.167A>C (p.Tyr56Ser) | |
| 10 | g.119030592A>G | CA378273662 | NANOS1 | c.791A>G (p.Tyr264Cys) c.167A>G (p.Tyr56Cys) | gnomAD v4 |
| 10 | g.119030592A>T | CA378273666 | NANOS1 | c.791A>T (p.Tyr264Phe) c.167A>T (p.Tyr56Phe) | |
| 10 | g.119030593C>A | CA378273667 | NANOS1 | c.792C>A (p.Tyr264Ter) c.168C>A (p.Tyr56Ter) | gnomAD v4 |
| 10 | g.119030593C>G | CA378273669 | NANOS1 | c.792C>G (p.Tyr264Ter) c.168C>G (p.Tyr56Ter) | |
| 10 | g.119030593C>T | CA471626870 | NANOS1 | c.792C>T (p.Tyr264=) c.168C>T (p.Tyr56=) | gnomAD v4 |
| 10 | g.119030593dup | CA596304670 | NANOS1 | c.792dup (p.Cys265LeufsTer?) c.168dup (p.Cys57LeufsTer?) | dbSNP gnomAD v2 |
| 10 | g.119030594T>A | CA378273670 | NANOS1 | c.793T>A (p.Cys265Ser) c.169T>A (p.Cys57Ser) | |
| 10 | g.119030594T>C | CA378273673 | NANOS1 | c.793T>C (p.Cys265Arg) c.169T>C (p.Cys57Arg) | gnomAD v4 |
| 10 | g.119030594T>G | CA378273671 | NANOS1 | c.793T>G (p.Cys265Gly) c.169T>G (p.Cys57Gly) | |
| 10 | g.119030594_119030619delinsTGCCCGCTCTCCAAAGTGCCGCCGCC | CA1939897202 | NANOS1 | c.793_818delinsTGCCCGCTCTCCAAAGTGCCGCCGCC (p.Cys265=) c.169_194delinsTGCCCGCTCTCCAAAGTGCCGCCGCC (p.Cys57=) | |
| 10 | g.119030595G>A | CA378273674 | NANOS1 | c.794G>A (p.Cys265Tyr) c.170G>A (p.Cys57Tyr) | gnomAD v4 |
| 10 | g.119030595G>C | CA378273683 | NANOS1 | c.794G>C (p.Cys265Ser) c.170G>C (p.Cys57Ser) | |
| 10 | g.119030595G= | CA1939897203 | NANOS1 | c.794G= (p.Cys265=) c.170G= (p.Cys57=) | |
| 10 | g.119030595G>T | CA5712824 | NANOS1 | c.794G>T (p.Cys265Phe) c.170G>T (p.Cys57Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030601_119030625del | CA596304672 | NANOS1 | c.800_824del (p.Leu267ProfsTer?) c.176_200del (p.Leu59ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030596C>A | CA378273686 | NANOS1 | c.795C>A (p.Cys265Ter) c.171C>A (p.Cys57Ter) | gnomAD v4 |
| 10 | g.119030596C= | CA1939897204 | NANOS1 | c.795C= (p.Cys265=) c.171C= (p.Cys57=) | |
| 10 | g.119030596C>G | CA378273687 | NANOS1 | c.795C>G (p.Cys265Trp) c.171C>G (p.Cys57Trp) | |
| 10 | g.119030596C>T | CA5712825 | NANOS1 | c.795C>T (p.Cys265=) c.171C>T (p.Cys57=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030598del | CA2611121737 | NANOS1 | c.797del (p.Pro266ArgfsTer?) c.173del (p.Pro58ArgfsTer?) | gnomAD v4 |
| 10 | g.119030597C>A | CA378273693 | NANOS1 | c.796C>A (p.Pro266Thr) c.172C>A (p.Pro58Thr) | gnomAD v4 |
| 10 | g.119030597C= | CA1939897205 | NANOS1 | c.796C= (p.Pro266=) c.172C= (p.Pro58=) | |
| 10 | g.119030597C>G | CA378273695 | NANOS1 | c.796C>G (p.Pro266Ala) c.172C>G (p.Pro58Ala) | gnomAD v4 |
| 10 | g.119030597C>T | CA378273697 | NANOS1 | c.796C>T (p.Pro266Ser) c.172C>T (p.Pro58Ser) | dbSNP gnomAD v4 |
| 10 | g.119030598C>A | CA378273698 | NANOS1 | c.797C>A (p.Pro266Gln) c.173C>A (p.Pro58Gln) | gnomAD v4 |
| 10 | g.119030598C= | CA1939897206 | NANOS1 | c.797C= (p.Pro266=) c.173C= (p.Pro58=) | |
| 10 | g.119030598C>G | CA5712826 | NANOS1 | c.797C>G (p.Pro266Arg) c.173C>G (p.Pro58Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030598C>T | CA378273707 | NANOS1 | c.797C>T (p.Pro266Leu) c.173C>T (p.Pro58Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030599del | CA596304679 | NANOS1 | c.798del (p.Leu267SerfsTer?) c.174del (p.Leu59SerfsTer?) | gnomAD v2 gnomAD v4 |
| 10 | g.119030599G>A | CA214154673 | NANOS1 | c.798G>A (p.Pro266=) c.174G>A (p.Pro58=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030599G>C | CA471626886 | NANOS1 | c.798G>C (p.Pro266=) c.174G>C (p.Pro58=) | gnomAD v4 |
| 10 | g.119030599G= | CA1939897207 | NANOS1 | c.798G= (p.Pro266=) c.174G= (p.Pro58=) | |
| 10 | g.119030599G>T | CA471626888 | NANOS1 | c.798G>T (p.Pro266=) c.174G>T (p.Pro58=) | gnomAD v4 |
| 10 | g.119030600C>A | CA378273709 | NANOS1 | c.799C>A (p.Leu267Ile) c.175C>A (p.Leu59Ile) | gnomAD v4 |
| 10 | g.119030600C>G | CA378273718 | NANOS1 | c.799C>G (p.Leu267Val) c.175C>G (p.Leu59Val) | |
| 10 | g.119030600C>T | CA378273720 | NANOS1 | c.799C>T (p.Leu267Phe) c.175C>T (p.Leu59Phe) | gnomAD v4 |
| 10 | g.119030601T>A | CA378273734 | NANOS1 | c.800T>A (p.Leu267His) c.176T>A (p.Leu59His) | dbSNP gnomAD v4 |
| 10 | g.119030601T>C | CA378273727 | NANOS1 | c.800T>C (p.Leu267Pro) c.176T>C (p.Leu59Pro) | gnomAD v4 |
| 10 | g.119030601T>G | CA378273728 | NANOS1 | c.800T>G (p.Leu267Arg) c.176T>G (p.Leu59Arg) | |
| 10 | g.119030602C>A | CA471626894 | NANOS1 | c.801C>A (p.Leu267=) c.177C>A (p.Leu59=) | gnomAD v4 |
| 10 | g.119030602C= | CA1939897208 | NANOS1 | c.801C= (p.Leu267=) c.177C= (p.Leu59=) | |
| 10 | g.119030602C>G | CA471626896 | NANOS1 | c.801C>G (p.Leu267=) c.177C>G (p.Leu59=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030602C>T | CA471626898 | NANOS1 | c.801C>T (p.Leu267=) c.177C>T (p.Leu59=) | dbSNP gnomAD v4 |
| 10 | g.119030603del | CA2611121745 | NANOS1 | c.802del (p.Ser268ProfsTer?) c.178del (p.Ser60ProfsTer?) | gnomAD v4 |
| 10 | g.119030603T>A | CA378273736 | NANOS1 | c.802T>A (p.Ser268Thr) c.178T>A (p.Ser60Thr) | gnomAD v4 |
| 10 | g.119030603T>C | CA378273737 | NANOS1 | c.802T>C (p.Ser268Pro) c.178T>C (p.Ser60Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030603T>G | CA378273738 | NANOS1 | c.802T>G (p.Ser268Ala) c.178T>G (p.Ser60Ala) | |
| 10 | g.119030603T= | CA1939897209 | NANOS1 | c.802T= (p.Ser268=) c.178T= (p.Ser60=) | |
| 10 | g.119030604C>A | CA378273744 | NANOS1 | c.803C>A (p.Ser268Tyr) c.179C>A (p.Ser60Tyr) | dbSNP gnomAD v4 |
| 10 | g.119030604C>G | CA378273745 | NANOS1 | c.803C>G (p.Ser268Cys) c.179C>G (p.Ser60Cys) | |
| 10 | g.119030604C>T | CA378273747 | NANOS1 | c.803C>T (p.Ser268Phe) c.179C>T (p.Ser60Phe) | |
| 10 | g.119030605dup | CA5712827 | NANOS1 | c.804dup (p.Lys269GlnfsTer?) c.180dup (p.Lys61GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030605C>A | CA471626901 | NANOS1 | c.804C>A (p.Ser268=) c.180C>A (p.Ser60=) | gnomAD v4 |
| 10 | g.119030605C= | CA1939897210 | NANOS1 | c.804C= (p.Ser268=) c.180C= (p.Ser60=) | |
| 10 | g.119030605C>G | CA471626903 | NANOS1 | c.804C>G (p.Ser268=) c.180C>G (p.Ser60=) | |
| 10 | g.119030605C>T | CA5712828 | NANOS1 | c.804C>T (p.Ser268=) c.180C>T (p.Ser60=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030606A>C | CA378273752 | NANOS1 | c.805A>C (p.Lys269Gln) c.181A>C (p.Lys61Gln) | |
| 10 | g.119030606A>G | CA378273754 | NANOS1 | c.805A>G (p.Lys269Glu) c.181A>G (p.Lys61Glu) | gnomAD v4 |
| 10 | g.119030606A>T | CA378273755 | NANOS1 | c.805A>T (p.Lys269Ter) c.181A>T (p.Lys61Ter) | |
| 10 | g.119030608del | CA2611121746 | NANOS1 | c.807del (p.Val270CysfsTer?) c.183del (p.Val62CysfsTer?) | gnomAD v4 |
| 10 | g.119030607A>C | CA378273758 | NANOS1 | c.806A>C (p.Lys269Thr) c.182A>C (p.Lys61Thr) | |
| 10 | g.119030607A>G | CA378273757 | NANOS1 | c.806A>G (p.Lys269Arg) c.182A>G (p.Lys61Arg) | gnomAD v4 |
| 10 | g.119030607A>T | CA378273756 | NANOS1 | c.806A>T (p.Lys269Ile) c.182A>T (p.Lys61Ile) | |
| 10 | g.119030608A= | CA1939897211 | NANOS1 | c.807A= (p.Lys269=) c.183A= (p.Lys61=) | |
| 10 | g.119030608A>C | CA378273760 | NANOS1 | c.807A>C (p.Lys269Asn) c.183A>C (p.Lys61Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030608A>G | CA471626912 | NANOS1 | c.807A>G (p.Lys269=) c.183A>G (p.Lys61=) | gnomAD v4 |
| 10 | g.119030608A>T | CA378273761 | NANOS1 | c.807A>T (p.Lys269Asn) c.183A>T (p.Lys61Asn) | |
| 10 | g.119030609G>A | CA5712829 | NANOS1 | c.808G>A (p.Val270Met) c.184G>A (p.Val62Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030609G>C | CA378273770 | NANOS1 | c.808G>C (p.Val270Leu) c.184G>C (p.Val62Leu) | gnomAD v4 |
| 10 | g.119030609G= | CA1939897212 | NANOS1 | c.808G= (p.Val270=) c.184G= (p.Val62=) | |
| 10 | g.119030609G>T | CA378273771 | NANOS1 | c.808G>T (p.Val270Leu) c.184G>T (p.Val62Leu) | gnomAD v4 |
| 10 | g.119030610T>A | CA378273773 | NANOS1 | c.809T>A (p.Val270Glu) c.185T>A (p.Val62Glu) | |
| 10 | g.119030610T>C | CA378273775 | NANOS1 | c.809T>C (p.Val270Ala) c.185T>C (p.Val62Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030610T>G | CA378273776 | NANOS1 | c.809T>G (p.Val270Gly) c.185T>G (p.Val62Gly) | |
| 10 | g.119030610T= | CA1939897214 | NANOS1 | c.809T= (p.Val270=) c.185T= (p.Val62=) | |
| 10 | g.119030610_119030613delinsTGCC | CA1939897213 | NANOS1 | c.809_812delinsTGCC (p.Val270=) c.185_188delinsTGCC (p.Val62=) | |
| 10 | g.119030611G>A | CA471626919 | NANOS1 | c.810G>A (p.Val270=) c.186G>A (p.Val62=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030611G>C | CA471626920 | NANOS1 | c.810G>C (p.Val270=) c.186G>C (p.Val62=) | |
| 10 | g.119030611G= | CA1939897215 | NANOS1 | c.810G= (p.Val270=) c.186G= (p.Val62=) | |
| 10 | g.119030611G>T | CA471626921 | NANOS1 | c.810G>T (p.Val270=) c.186G>T (p.Val62=) | gnomAD v4 |
| 10 | g.119030620_119030622dup | CA5712830 | NANOS1 | c.819_821dup (p.Pro274_Ala275insPro) c.195_197dup (p.Pro66_Ala67insPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030620_119030622del | CA596304691 | NANOS1 | c.819_821del (p.Pro274del) c.195_197del (p.Pro66del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030617_119030622del | CA2611121758 | NANOS1 | c.816_821del (p.Pro273_Pro274del) c.192_197del (p.Pro65_Pro66del) | gnomAD v4 |
| 10 | g.119030611_119030629delinsGCCGCCGCCGCCCGCCCGC | CA1939897216 | NANOS1 | c.810_828delinsGCCGCCGCCGCCCGCCCGC (p.Val270=) c.186_204delinsGCCGCCGCCGCCCGCCCGC (p.Val62=) | |
| 10 | g.119030612_119030706del | CA2611121760 | NANOS1 | c.811_*26del (n.[c.811_*26del;Pro271SerfsTer?]) c.187_281del (n.[c.187_281del;Pro63SerfsTer?]) | gnomAD v4 |
| 10 | g.119030620_119030717del | CA2611121761 | NANOS1 | c.819_*37del (n.[c.819_*37del;Pro274LeufsTer?]) c.195_292del (n.[c.195_292del;Pro66LeufsTer?]) | gnomAD v4 |
| 10 | g.119030612C>A | CA378273778 | NANOS1 | c.811C>A (p.Pro271Thr) c.187C>A (p.Pro63Thr) | gnomAD v4 |
| 10 | g.119030612C= | CA1939897217 | NANOS1 | c.811C= (p.Pro271=) c.187C= (p.Pro63=) | |
| 10 | g.119030612C>G | CA378273779 | NANOS1 | c.811C>G (p.Pro271Ala) c.187C>G (p.Pro63Ala) | gnomAD v4 |
| 10 | g.119030612C>T | CA378273780 | NANOS1 | c.811C>T (p.Pro271Ser) c.187C>T (p.Pro63Ser) | dbSNP gnomAD v4 |
| 10 | g.119030617_119030630del | CA2574685982 | NANOS1 | c.816_829del (p.Pro273AlafsTer?) c.192_205del (p.Pro65AlafsTer?) | gnomAD v4 |
| 10 | g.119030620_119030637del | CA5712831 | NANOS1 | c.819_836del (p.Pro274_Pro279del) c.195_212del (p.Pro66_Pro71del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030613C>A | CA378273788 | NANOS1 | c.812C>A (p.Pro271Gln) c.188C>A (p.Pro63Gln) | gnomAD v4 |
| 10 | g.119030613C>G | CA378273786 | NANOS1 | c.812C>G (p.Pro271Arg) c.188C>G (p.Pro63Arg) | gnomAD v4 |
| 10 | g.119030613C>T | CA378273787 | NANOS1 | c.812C>T (p.Pro271Leu) c.188C>T (p.Pro63Leu) | gnomAD v4 |
| 10 | g.119030624_119030718del | CA2611121785 | NANOS1 | c.823_*38del (n.[c.823_*38del;Ala275LeufsTer?]) c.199_293del (n.[c.199_293del;Ala67LeufsTer?]) | gnomAD v4 |
| 10 | g.119030614G>A | CA471626928 | NANOS1 | c.813G>A (p.Pro271=) c.189G>A (p.Pro63=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030614G>C | CA471626929 | NANOS1 | c.813G>C (p.Pro271=) c.189G>C (p.Pro63=) | gnomAD v4 |
| 10 | g.119030614G= | CA1939897218 | NANOS1 | c.813G= (p.Pro271=) c.189G= (p.Pro63=) | |
| 10 | g.119030614G>T | CA471626931 | NANOS1 | c.813G>T (p.Pro271=) c.189G>T (p.Pro63=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030614_119030629delinsGCCGCCGCCCGCCCGC | CA1939897219 | NANOS1 | c.813_828delinsGCCGCCGCCCGCCCGC (p.Pro271=) c.189_204delinsGCCGCCGCCCGCCCGC (p.Pro63=) | |
| 10 | g.119030615C>A | CA378273789 | NANOS1 | c.814C>A (p.Pro272Thr) c.190C>A (p.Pro64Thr) | gnomAD v4 |
| 10 | g.119030615C>G | CA378273790 | NANOS1 | c.814C>G (p.Pro272Ala) c.190C>G (p.Pro64Ala) | |
| 10 | g.119030615C>T | CA378273791 | NANOS1 | c.814C>T (p.Pro272Ser) c.190C>T (p.Pro64Ser) | gnomAD v4 |
| 10 | g.119030620_119030626del | CA2611121794 | NANOS1 | c.819_825del (p.Pro274AlafsTer?) c.195_201del (p.Pro66AlafsTer?) | gnomAD v4 |
| 10 | g.119030624_119030638dup | CA2611121795 | NANOS1 | c.823_837dup (p.Pro279_Arg280insAlaArgProProPro) c.199_213dup (p.Pro71_Arg72insAlaArgProProPro) | gnomAD v4 |
| 10 | g.119030624_119030638del | CA5712832 | NANOS1 | c.823_837del (p.Ala275_Pro279del) c.199_213del (p.Ala67_Pro71del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030616C>A | CA378273796 | NANOS1 | c.815C>A (p.Pro272Gln) c.191C>A (p.Pro64Gln) | gnomAD v4 |
| 10 | g.119030616C= | CA1939897220 | NANOS1 | c.815C= (p.Pro272=) c.191C= (p.Pro64=) | |
| 10 | g.119030616C>G | CA5712833 | NANOS1 | c.815C>G (p.Pro272Arg) c.191C>G (p.Pro64Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030616C>T | CA378273804 | NANOS1 | c.815C>T (p.Pro272Leu) c.191C>T (p.Pro64Leu) | gnomAD v4 |
| 10 | g.119030617G>A | CA214154704 | NANOS1 | c.816G>A (p.Pro272=) c.192G>A (p.Pro64=) | dbSNP gnomAD v4 |
| 10 | g.119030617G>C | CA471626938 | NANOS1 | c.816G>C (p.Pro272=) c.192G>C (p.Pro64=) | |
| 10 | g.119030617G= | CA1939897222 | NANOS1 | c.816G= (p.Pro272=) c.192G= (p.Pro64=) | |
| 10 | g.119030617G>T | CA471626939 | NANOS1 | c.816G>T (p.Pro272=) c.192G>T (p.Pro64=) | gnomAD v4 |
| 10 | g.119030617_119030620del | CA2611121806 | NANOS1 | c.816_819del (p.Pro277ArgfsTer?) c.192_195del (p.Pro69ArgfsTer?) | gnomAD v4 |
| 10 | g.119030617_119030625delinsGCCGCCCGC | CA1939897221 | NANOS1 | c.816_824delinsGCCGCCCGC (p.Pro272=) c.192_200delinsGCCGCCCGC (p.Pro64=) | |
| 10 | g.119030624_119030702del | CA2611121808 | NANOS1 | c.823_*22del (n.[c.823_*22del;Ala275ArgfsTer?]) c.199_277del (n.[c.199_277del;Ala67ArgfsTer?]) | gnomAD v4 |
| 10 | g.119030618C>A | CA378273806 | NANOS1 | c.817C>A (p.Pro273Thr) c.193C>A (p.Pro65Thr) | gnomAD v4 |
| 10 | g.119030618C= | CA1939897223 | NANOS1 | c.817C= (p.Pro273=) c.193C= (p.Pro65=) | |
| 10 | g.119030618C>G | CA378273812 | NANOS1 | c.817C>G (p.Pro273Ala) c.193C>G (p.Pro65Ala) | |
| 10 | g.119030618C>T | CA378273817 | NANOS1 | c.817C>T (p.Pro273Ser) c.193C>T (p.Pro65Ser) | gnomAD v4 |
| 10 | g.119030619dup | CA2611121827 | NANOS1 | c.818dup (p.Pro274AlafsTer?) c.194dup (p.Pro66AlafsTer?) | gnomAD v4 |
| 10 | g.119030631_119030634dup | CA214154706 | NANOS1 | c.830_833dup (p.Pro279AlafsTer?) c.206_209dup (p.Pro71AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030627_119030634dup | CA2574685983 | NANOS1 | c.826_833dup (p.Pro279AlafsTer?) c.202_209dup (p.Pro71AlafsTer?) | gnomAD v4 |
| 10 | g.119030631_119030634del | CA5712834 | NANOS1 | c.830_833del (p.Pro277ArgfsTer?) c.206_209del (p.Pro69ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119030627_119030634del | CA214154713 | NANOS1 | c.826_833del (p.Arg276AlafsTer?) c.202_209del (p.Arg68AlafsTer?) | dbSNP gnomAD v4 |
| 10 | g.119030619C>A | CA378273821 | NANOS1 | c.818C>A (p.Pro273Gln) c.194C>A (p.Pro65Gln) | gnomAD v4 |
| 10 | g.119030619C= | CA1939897224 | NANOS1 | c.818C= (p.Pro273=) c.194C= (p.Pro65=) | |
| 10 | g.119030619C>G | CA378273824 | NANOS1 | c.818C>G (p.Pro273Arg) c.194C>G (p.Pro65Arg) | dbSNP |
| 10 | g.119030619C>T | CA378273823 | NANOS1 | c.818C>T (p.Pro273Leu) c.194C>T (p.Pro65Leu) | gnomAD v4 |
| 10 | g.119030621_119030622insTCGC | CA933086640 | NANOS1 | c.820_821insTCGC (p.Pro274LeufsTer?) c.196_197insTCGC (p.Pro66LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030620_119030621del | CA2611121831 | NANOS1 | c.819_820del (p.Pro274ArgfsTer?) c.195_196del (p.Pro66ArgfsTer?) | gnomAD v4 |
| 10 | g.119030620G>A | CA471626947 | NANOS1 | c.819G>A (p.Pro273=) c.195G>A (p.Pro65=) | dbSNP gnomAD v4 |
| 10 | g.119030620G>C | CA471626948 | NANOS1 | c.819G>C (p.Pro273=) c.195G>C (p.Pro65=) | |
| 10 | g.119030620G= | CA1939897226 | NANOS1 | c.819G= (p.Pro273=) c.195G= (p.Pro65=) | |
| 10 | g.119030620G>T | CA471626949 | NANOS1 | c.819G>T (p.Pro273=) c.195G>T (p.Pro65=) | gnomAD v4 |
| 10 | g.119030620_119030621delinsGC | CA1939897225 | NANOS1 | c.819_820delinsGC (p.Pro273=) c.195_196delinsGC (p.Pro65=) | |
| 10 | g.119030621C>A | CA378273826 | NANOS1 | c.820C>A (p.Pro274Thr) c.196C>A (p.Pro66Thr) | gnomAD v4 |
| 10 | g.119030621C= | CA1939897227 | NANOS1 | c.820C= (p.Pro274=) c.196C= (p.Pro66=) | |
| 10 | g.119030621C>G | CA378273832 | NANOS1 | c.820C>G (p.Pro274Ala) c.196C>G (p.Pro66Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030621C>T | CA378273829 | NANOS1 | c.820C>T (p.Pro274Ser) c.196C>T (p.Pro66Ser) | gnomAD v4 |
| 10 | g.119030623del | CA596304701 | NANOS1 | c.822del (p.Ala275ProfsTer?) c.198del (p.Ala67ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030622_119030639del | CA2611121833 | NANOS1 | c.821_838del (p.Pro274_Pro279del) c.197_214del (p.Pro66_Pro71del) | gnomAD v4 |
| 10 | g.119030626_119030641del | CA2611121832 | NANOS1 | c.825_840del (p.Arg276AlafsTer?) c.201_216del (p.Arg68AlafsTer?) | gnomAD v4 |
| 10 | g.119030622C>A | CA378273833 | NANOS1 | c.821C>A (p.Pro274His) c.197C>A (p.Pro66His) | gnomAD v4 |
| 10 | g.119030622C>G | CA378273834 | NANOS1 | c.821C>G (p.Pro274Arg) c.197C>G (p.Pro66Arg) | |
| 10 | g.119030622C>T | CA378273835 | NANOS1 | c.821C>T (p.Pro274Leu) c.197C>T (p.Pro66Leu) | gnomAD v4 |
| 10 | g.119030622_119030623insTGC | CA2574685984 | NANOS1 | c.821_822insTGC (p.Pro274_Ala275insAla) c.197_198insTGC (p.Pro66_Ala67insAla) | |
| 10 | g.119030624_119030626dup | CA1939897228 | NANOS1 | c.823_825dup (p.Ala275_Arg276insAla) c.199_201dup (p.Ala67_Arg68insAla) | dbSNP |
| 10 | g.119030622_119030623insTG | CA2533610998 | NANOS1 | c.821_822insTG (p.Arg276ProfsTer?) c.197_198insTG (p.Arg68ProfsTer?) | |
| 10 | g.119030623C>A | CA471626959 | NANOS1 | c.822C>A (p.Pro274=) c.198C>A (p.Pro66=) | gnomAD v4 |
| 10 | g.119030623C>G | CA471626961 | NANOS1 | c.822C>G (p.Pro274=) c.198C>G (p.Pro66=) | |
| 10 | g.119030623C>T | CA471626958 | NANOS1 | c.822C>T (p.Pro274=) c.198C>T (p.Pro66=) | gnomAD v4 |
| 10 | g.119030623_119030624insA | CA2563584374 | NANOS1 | c.822_823insA (p.Ala275SerfsTer?) c.198_199insA (p.Ala67SerfsTer?) | |
| 10 | g.119030624del | CA2611121834 | NANOS1 | c.823del (p.Ala275ProfsTer?) c.199del (p.Ala67ProfsTer?) | gnomAD v4 |
| 10 | g.119030624G>A | CA378273836 | NANOS1 | c.823G>A (p.Ala275Thr) c.199G>A (p.Ala67Thr) | gnomAD v4 COSMIC |
| 10 | g.119030624G>C | CA378273837 | NANOS1 | c.823G>C (p.Ala275Pro) c.199G>C (p.Ala67Pro) | |
| 10 | g.119030624G= | CA1939897229 | NANOS1 | c.823G= (p.Ala275=) c.199G= (p.Ala67=) | |
| 10 | g.119030624G>T | CA214154718 | NANOS1 | c.823G>T (p.Ala275Ser) c.199G>T (p.Ala67Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030625C>A | CA378273838 | NANOS1 | c.824C>A (p.Ala275Asp) c.200C>A (p.Ala67Asp) | gnomAD v4 |
| 10 | g.119030625C= | CA1939897230 | NANOS1 | c.824C= (p.Ala275=) c.200C= (p.Ala67=) | |
| 10 | g.119030625C>G | CA378273839 | NANOS1 | c.824C>G (p.Ala275Gly) c.200C>G (p.Ala67Gly) | |
| 10 | g.119030625C>T | CA378273840 | NANOS1 | c.824C>T (p.Ala275Val) c.200C>T (p.Ala67Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030627del | CA2611121836 | NANOS1 | c.826del (p.Arg276AlafsTer?) c.202del (p.Arg68AlafsTer?) | gnomAD v4 |
| 10 | g.119030625_119030639del | CA2611121837 | NANOS1 | c.824_838del (p.Ala275_Arg280delinsGly) c.200_214del (p.Ala67_Arg72delinsGly) | gnomAD v4 |
| 10 | g.119030626C>A | CA471626968 | NANOS1 | c.825C>A (p.Ala275=) c.201C>A (p.Ala67=) | gnomAD v4 |
| 10 | g.119030626C= | CA1939897231 | NANOS1 | c.825C= (p.Ala275=) c.201C= (p.Ala67=) | |
| 10 | g.119030626C>G | CA471626970 | NANOS1 | c.825C>G (p.Ala275=) c.201C>G (p.Ala67=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030626C>T | CA5712835 | NANOS1 | c.825C>T (p.Ala275=) c.201C>T (p.Ala67=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030632_119030638dup | CA2611121838 | NANOS1 | c.831_837dup (p.Arg280AlafsTer?) c.207_213dup (p.Arg72AlafsTer?) | gnomAD v4 |
| 10 | g.119030627C>A | CA378273846 | NANOS1 | c.826C>A (p.Arg276Ser) c.202C>A (p.Arg68Ser) | gnomAD v4 |
| 10 | g.119030627C= | CA1939897233 | NANOS1 | c.826C= (p.Arg276=) c.202C= (p.Arg68=) | |
| 10 | g.119030627C>G | CA378273845 | NANOS1 | c.826C>G (p.Arg276Gly) c.202C>G (p.Arg68Gly) | |
| 10 | g.119030627C>T | CA378273843 | NANOS1 | c.826C>T (p.Arg276Cys) c.202C>T (p.Arg68Cys) | dbSNP gnomAD v4 |
| 10 | g.119030627_119030628delinsCG | CA1939897232 | NANOS1 | c.826_827delinsCG (p.Arg276=) c.202_203delinsCG (p.Arg68=) | |
| 10 | g.119030627_119030628delinsTA | CA358602 | NANOS1 | c.826_827delinsTA (p.Arg276Tyr) c.202_203delinsTA (p.Arg68Tyr) | dbSNP |
| 10 | g.119030627_119030654delinsCGCCCGCCGCCCCGCAGCGCCAGGGACG | CA1939897234 | NANOS1 | c.826_853delinsCGCCCGCCGCCCCGCAGCGCCAGGGACG (p.Arg276=) c.202_229delinsCGCCCGCCGCCCCGCAGCGCCAGGGACG (p.Arg68=) | |
| 10 | g.119030628del | CA2611121839 | NANOS1 | c.827del (p.Arg276ProfsTer?) c.203del (p.Arg68ProfsTer?) | gnomAD v4 |
| 10 | g.119030628G>A | CA378273849 | NANOS1 | c.827G>A (p.Arg276His) c.203G>A (p.Arg68His) | dbSNP gnomAD v4 |
| 10 | g.119030628G>C | CA378273851 | NANOS1 | c.827G>C (p.Arg276Pro) c.203G>C (p.Arg68Pro) | gnomAD v4 |
| 10 | g.119030628G= | CA1939897235 | NANOS1 | c.827G= (p.Arg276=) c.203G= (p.Arg68=) | |
| 10 | g.119030628G>T | CA378273854 | NANOS1 | c.827G>T (p.Arg276Leu) c.203G>T (p.Arg68Leu) | gnomAD v4 |
| 10 | g.119030628_119030629delinsGC | CA1939897236 | NANOS1 | c.827_828delinsGC (p.Arg276=) c.203_204delinsGC (p.Arg68=) | |
| 10 | g.119030635_119030661del | CA660578862 | NANOS1 | c.834_860del (p.Pro279_Pro287del) c.210_236del (p.Pro71_Pro79del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030629C>A | CA471626979 | NANOS1 | c.828C>A (p.Arg276=) c.204C>A (p.Arg68=) | gnomAD v4 |
| 10 | g.119030629C>G | CA471626980 | NANOS1 | c.828C>G (p.Arg276=) c.204C>G (p.Arg68=) | |
| 10 | g.119030629C>T | CA471626982 | NANOS1 | c.828C>T (p.Arg276=) c.204C>T (p.Arg68=) | gnomAD v4 |
| 10 | g.119030631del | CA596304711 | NANOS1 | c.830del (p.Pro277ArgfsTer?) c.206del (p.Pro69ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030630C>A | CA378273857 | NANOS1 | c.829C>A (p.Pro277Thr) c.205C>A (p.Pro69Thr) | gnomAD v4 |
| 10 | g.119030630C>G | CA378273858 | NANOS1 | c.829C>G (p.Pro277Ala) c.205C>G (p.Pro69Ala) | |
| 10 | g.119030630C>T | CA378273859 | NANOS1 | c.829C>T (p.Pro277Ser) c.205C>T (p.Pro69Ser) | gnomAD v4 |
| 10 | g.119030640_119030719del | CA2611121840 | NANOS1 | c.839_*39del (n.[c.839_*39del;Arg280LeufsTer?]) c.215_294del (n.[c.215_294del;Arg72LeufsTer?]) | gnomAD v4 |
| 10 | g.119030631C>A | CA378273860 | NANOS1 | c.830C>A (p.Pro277Gln) c.206C>A (p.Pro69Gln) | gnomAD v4 |
| 10 | g.119030631C= | CA1939897237 | NANOS1 | c.830C= (p.Pro277=) c.206C= (p.Pro69=) | |
| 10 | g.119030631C>G | CA378273862 | NANOS1 | c.830C>G (p.Pro277Arg) c.206C>G (p.Pro69Arg) | |
| 10 | g.119030631C>T | CA378273863 | NANOS1 | c.830C>T (p.Pro277Leu) c.206C>T (p.Pro69Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030632G>A | CA471626987 | NANOS1 | c.831G>A (p.Pro277=) c.207G>A (p.Pro69=) | gnomAD v4 |
| 10 | g.119030632G>C | CA471626989 | NANOS1 | c.831G>C (p.Pro277=) c.207G>C (p.Pro69=) | dbSNP |
| 10 | g.119030632G= | CA1939897238 | NANOS1 | c.831G= (p.Pro277=) c.207G= (p.Pro69=) | |
| 10 | g.119030632G>T | CA471626990 | NANOS1 | c.831G>T (p.Pro277=) c.207G>T (p.Pro69=) | gnomAD v4 |
| 10 | g.119030633C>A | CA378273864 | NANOS1 | c.832C>A (p.Pro278Thr) c.208C>A (p.Pro70Thr) | gnomAD v4 |
| 10 | g.119030633C= | CA1939897239 | NANOS1 | c.832C= (p.Pro278=) c.208C= (p.Pro70=) | |
| 10 | g.119030633C>G | CA378273865 | NANOS1 | c.832C>G (p.Pro278Ala) c.208C>G (p.Pro70Ala) | dbSNP |
| 10 | g.119030633C>T | CA378273866 | NANOS1 | c.832C>T (p.Pro278Ser) c.208C>T (p.Pro70Ser) | gnomAD v4 |
| 10 | g.119030634del | CA2574685985 | NANOS1 | c.833del (p.Pro278ArgfsTer?) c.209del (p.Pro70ArgfsTer?) | gnomAD v4 |
| 10 | g.119030634C>A | CA378273869 | NANOS1 | c.833C>A (p.Pro278Gln) c.209C>A (p.Pro70Gln) | gnomAD v4 |
| 10 | g.119030634C>G | CA378273868 | NANOS1 | c.833C>G (p.Pro278Arg) c.209C>G (p.Pro70Arg) | |
| 10 | g.119030634C>T | CA378273867 | NANOS1 | c.833C>T (p.Pro278Leu) c.209C>T (p.Pro70Leu) | gnomAD v4 |
| 10 | g.119030635G>A | CA471626996 | NANOS1 | c.834G>A (p.Pro278=) c.210G>A (p.Pro70=) | gnomAD v4 |
| 10 | g.119030635G>C | CA471626997 | NANOS1 | c.834G>C (p.Pro278=) c.210G>C (p.Pro70=) | |
| 10 | g.119030635G>T | CA471626998 | NANOS1 | c.834G>T (p.Pro278=) c.210G>T (p.Pro70=) | gnomAD v4 |
| 10 | g.119030637_119030644dup | CA2611121842 | NANOS1 | c.836_843dup (p.Ala282ProfsTer?) c.212_219dup (p.Ala74ProfsTer?) | gnomAD v4 |
| 10 | g.119030636C>A | CA378273873 | NANOS1 | c.835C>A (p.Pro279Thr) c.211C>A (p.Pro71Thr) | gnomAD v4 |
| 10 | g.119030636C= | CA1939897240 | NANOS1 | c.835C= (p.Pro279=) c.211C= (p.Pro71=) | |
| 10 | g.119030636C>G | CA378273870 | NANOS1 | c.835C>G (p.Pro279Ala) c.211C>G (p.Pro71Ala) | |
| 10 | g.119030636C>T | CA378273872 | NANOS1 | c.835C>T (p.Pro279Ser) c.211C>T (p.Pro71Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030639del | CA2611121843 | NANOS1 | c.838del (p.Arg280AlafsTer?) c.214del (p.Arg72AlafsTer?) | gnomAD v4 |
| 10 | g.119030637C>A | CA378273874 | NANOS1 | c.836C>A (p.Pro279His) c.212C>A (p.Pro71His) | gnomAD v4 |
| 10 | g.119030637C>G | CA378273875 | NANOS1 | c.836C>G (p.Pro279Arg) c.212C>G (p.Pro71Arg) | |
| 10 | g.119030637C>T | CA378273878 | NANOS1 | c.836C>T (p.Pro279Leu) c.212C>T (p.Pro71Leu) | gnomAD v4 |
| 10 | g.119030637_119030645delinsCCCGCAGCG | CA1939897241 | NANOS1 | c.836_844delinsCCCGCAGCG (p.Pro279=) c.212_220delinsCCCGCAGCG (p.Pro71=) | |
| 10 | g.119030638C>A | CA471627004 | NANOS1 | c.837C>A (p.Pro279=) c.213C>A (p.Pro71=) | gnomAD v4 |
| 10 | g.119030638C>G | CA471627006 | NANOS1 | c.837C>G (p.Pro279=) c.213C>G (p.Pro71=) | gnomAD v4 |
| 10 | g.119030638C>T | CA471627007 | NANOS1 | c.837C>T (p.Pro279=) c.213C>T (p.Pro71=) | gnomAD v4 |
| 10 | g.119030640_119030647del | CA660578879 | NANOS1 | c.839_846del (p.Arg280GlnfsTer?) c.215_222del (p.Arg72GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |