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.119030438G>A | CA5712794 | NANOS1 | c.637G>A (p.Val213Met) c.13G>A (p.Val5Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030438G>C | CA378272998 | NANOS1 | c.637G>C (p.Val213Leu) c.13G>C (p.Val5Leu) | gnomAD v4 |
| 10 | g.119030438G= | CA1939897122 | NANOS1 | c.637G= (p.Val213=) c.13G= (p.Val5=) | |
| 10 | g.119030438G>T | CA378272999 | NANOS1 | c.637G>T (p.Val213Leu) c.13G>T (p.Val5Leu) | gnomAD v4 |
| 10 | g.119030439T>A | CA378273001 | NANOS1 | c.638T>A (p.Val213Glu) c.14T>A (p.Val5Glu) | |
| 10 | g.119030439T>C | CA378273003 | NANOS1 | c.638T>C (p.Val213Ala) c.14T>C (p.Val5Ala) | gnomAD v4 |
| 10 | g.119030439T>G | CA378273005 | NANOS1 | c.638T>G (p.Val213Gly) c.14T>G (p.Val5Gly) | |
| 10 | g.119030440G>A | CA471738268 | NANOS1 | c.639G>A (p.Val213=) c.15G>A (p.Val5=) | gnomAD v4 |
| 10 | g.119030440G>C | CA471738269 | NANOS1 | c.639G>C (p.Val213=) c.15G>C (p.Val5=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030440G= | CA1939897123 | NANOS1 | c.639G= (p.Val213=) c.15G= (p.Val5=) | |
| 10 | g.119030440G>T | CA471738270 | NANOS1 | c.639G>T (p.Val213=) c.15G>T (p.Val5=) | gnomAD v4 |
| 10 | g.119030441T>A | CA378273006 | NANOS1 | c.640T>A (p.Cys214Ser) c.16T>A (p.Cys6Ser) | |
| 10 | g.119030441T>C | CA378273008 | NANOS1 | c.640T>C (p.Cys214Arg) c.16T>C (p.Cys6Arg) | gnomAD v4 |
| 10 | g.119030441T>G | CA378273010 | NANOS1 | c.640T>G (p.Cys214Gly) c.16T>G (p.Cys6Gly) | |
| 10 | g.119030442G>A | CA378273012 | NANOS1 | c.641G>A (p.Cys214Tyr) c.17G>A (p.Cys6Tyr) | gnomAD v4 |
| 10 | g.119030442G>C | CA378273014 | NANOS1 | c.641G>C (p.Cys214Ser) c.17G>C (p.Cys6Ser) | gnomAD v4 |
| 10 | g.119030442G>T | CA378273011 | NANOS1 | c.641G>T (p.Cys214Phe) c.17G>T (p.Cys6Phe) | gnomAD v4 |
| 10 | g.119030443C>A | CA378273016 | NANOS1 | c.642C>A (p.Cys214Ter) c.18C>A (p.Cys6Ter) | gnomAD v4 |
| 10 | g.119030443C= | CA1939897124 | NANOS1 | c.642C= (p.Cys214=) c.18C= (p.Cys6=) | |
| 10 | g.119030443C>G | CA378273017 | NANOS1 | c.642C>G (p.Cys214Trp) c.18C>G (p.Cys6Trp) | gnomAD v4 |
| 10 | g.119030443C>T | CA471738274 | NANOS1 | c.642C>T (p.Cys214=) c.18C>T (p.Cys6=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030444G>A | CA378273019 | NANOS1 | c.643G>A (p.Val215Met) c.19G>A (p.Val7Met) | gnomAD v4 |
| 10 | g.119030444G>C | CA378273021 | NANOS1 | c.643G>C (p.Val215Leu) c.19G>C (p.Val7Leu) | gnomAD v4 |
| 10 | g.119030444G>T | CA378273022 | NANOS1 | c.643G>T (p.Val215Leu) c.19G>T (p.Val7Leu) | gnomAD v4 |
| 10 | g.119030445T>A | CA378273029 | NANOS1 | c.644T>A (p.Val215Glu) c.20T>A (p.Val7Glu) | gnomAD v4 |
| 10 | g.119030445T>C | CA378273030 | NANOS1 | c.644T>C (p.Val215Ala) c.20T>C (p.Val7Ala) | gnomAD v4 |
| 10 | g.119030445T>G | CA378273032 | NANOS1 | c.644T>G (p.Val215Gly) c.20T>G (p.Val7Gly) | |
| 10 | g.119030446G>A | CA471738276 | NANOS1 | c.645G>A (p.Val215=) c.21G>A (p.Val7=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030446G>C | CA471738277 | NANOS1 | c.645G>C (p.Val215=) c.21G>C (p.Val7=) | gnomAD v4 |
| 10 | g.119030446G>T | CA471738278 | NANOS1 | c.645G>T (p.Val215=) c.21G>T (p.Val7=) | gnomAD v4 |
| 10 | g.119030447T>A | CA378273034 | NANOS1 | c.646T>A (p.Phe216Ile) c.22T>A (p.Phe8Ile) | |
| 10 | g.119030447T>C | CA378273035 | NANOS1 | c.646T>C (p.Phe216Leu) c.22T>C (p.Phe8Leu) | gnomAD v4 |
| 10 | g.119030447T>G | CA378273036 | NANOS1 | c.646T>G (p.Phe216Val) c.22T>G (p.Phe8Val) | |
| 10 | g.119030448T>A | CA378273037 | NANOS1 | c.647T>A (p.Phe216Tyr) c.23T>A (p.Phe8Tyr) | |
| 10 | g.119030448T>C | CA378273038 | NANOS1 | c.647T>C (p.Phe216Ser) c.23T>C (p.Phe8Ser) | dbSNP gnomAD v4 |
| 10 | g.119030448T>G | CA378273040 | NANOS1 | c.647T>G (p.Phe216Cys) c.23T>G (p.Phe8Cys) | |
| 10 | g.119030448T= | CA1939897125 | NANOS1 | c.647T= (p.Phe216=) c.23T= (p.Phe8=) | |
| 10 | g.119030449C>A | CA378273043 | NANOS1 | c.648C>A (p.Phe216Leu) c.24C>A (p.Phe8Leu) | gnomAD v4 |
| 10 | g.119030449C= | CA1939897126 | NANOS1 | c.648C= (p.Phe216=) c.24C= (p.Phe8=) | |
| 10 | g.119030449C>G | CA378273041 | NANOS1 | c.648C>G (p.Phe216Leu) c.24C>G (p.Phe8Leu) | dbSNP gnomAD v4 |
| 10 | g.119030449C>T | CA471738283 | NANOS1 | c.648C>T (p.Phe216=) c.24C>T (p.Phe8=) | gnomAD v4 |
| 10 | g.119030450T>A | CA378273044 | NANOS1 | c.649T>A (p.Cys217Ser) c.25T>A (p.Cys9Ser) | |
| 10 | g.119030450T>C | CA378273045 | NANOS1 | c.649T>C (p.Cys217Arg) c.25T>C (p.Cys9Arg) | gnomAD v4 |
| 10 | g.119030450T>G | CA378273047 | NANOS1 | c.649T>G (p.Cys217Gly) c.25T>G (p.Cys9Gly) | |
| 10 | g.119030451del | CA2789688078 | NANOS1 | c.650del (p.Cys217SerfsTer?) c.26del (p.Cys9SerfsTer?) | |
| 10 | g.119030451G>A | CA378273048 | NANOS1 | c.650G>A (p.Cys217Tyr) c.26G>A (p.Cys9Tyr) | gnomAD v4 |
| 10 | g.119030451G>C | CA378273050 | NANOS1 | c.650G>C (p.Cys217Ser) c.26G>C (p.Cys9Ser) | gnomAD v4 |
| 10 | g.119030451G>T | CA378273052 | NANOS1 | c.650G>T (p.Cys217Phe) c.26G>T (p.Cys9Phe) | gnomAD v4 |
| 10 | g.119030452C>A | CA378273055 | NANOS1 | c.651C>A (p.Cys217Ter) c.27C>A (p.Cys9Ter) | gnomAD v4 |
| 10 | g.119030452C>G | CA378273053 | NANOS1 | c.651C>G (p.Cys217Trp) c.27C>G (p.Cys9Trp) | gnomAD v4 |
| 10 | g.119030452C>T | CA471738287 | NANOS1 | c.651C>T (p.Cys217=) c.27C>T (p.Cys9=) | gnomAD v4 |
| 10 | g.119030453C>A | CA471738288 | NANOS1 | c.652C>A (p.Arg218=) c.28C>A (p.Arg10=) | gnomAD v4 |
| 10 | g.119030453C= | CA1939897128 | NANOS1 | c.652C= (p.Arg218=) c.28C= (p.Arg10=) | |
| 10 | g.119030453C>G | CA378273056 | NANOS1 | c.652C>G (p.Arg218Gly) c.28C>G (p.Arg10Gly) | |
| 10 | g.119030453C>T | CA378273058 | NANOS1 | c.652C>T (p.Arg218Trp) c.28C>T (p.Arg10Trp) | dbSNP gnomAD v4 |
| 10 | g.119030453_119030454delinsCG | CA1939897127 | NANOS1 | c.652_653delinsCG (p.Arg218=) c.28_29delinsCG (p.Arg10=) | |
| 10 | g.119030454G>A | CA378273059 | NANOS1 | c.653G>A (p.Arg218Gln) c.29G>A (p.Arg10Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030454G>C | CA378273060 | NANOS1 | c.653G>C (p.Arg218Pro) c.29G>C (p.Arg10Pro) | gnomAD v4 |
| 10 | g.119030454G= | CA1939897129 | NANOS1 | c.653G= (p.Arg218=) c.29G= (p.Arg10=) | |
| 10 | g.119030454G>T | CA378273061 | NANOS1 | c.653G>T (p.Arg218Leu) c.29G>T (p.Arg10Leu) | gnomAD v4 |
| 10 | g.119030455del | CA5712795 | NANOS1 | c.654del (p.Asn219ThrfsTer?) c.30del (p.Asn11ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030455G>A | CA471738293 | NANOS1 | c.654G>A (p.Arg218=) c.30G>A (p.Arg10=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030455G>C | CA471738292 | NANOS1 | c.654G>C (p.Arg218=) c.30G>C (p.Arg10=) | gnomAD v4 |
| 10 | g.119030455G= | CA1939897130 | NANOS1 | c.654G= (p.Arg218=) c.30G= (p.Arg10=) | |
| 10 | g.119030455G>T | CA471738294 | NANOS1 | c.654G>T (p.Arg218=) c.30G>T (p.Arg10=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030455_119030458delinsGAAC | CA1939897131 | NANOS1 | c.654_657delinsGAAC (p.Arg218=) c.30_33delinsGAAC (p.Arg10=) | |
| 10 | g.119030456A= | CA1939897132 | NANOS1 | c.655A= (p.Asn219=) c.31A= (p.Asn11=) | |
| 10 | g.119030456A>C | CA5712796 | NANOS1 | c.655A>C (p.Asn219His) c.31A>C (p.Asn11His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030456A>G | CA378273065 | NANOS1 | c.655A>G (p.Asn219Asp) c.31A>G (p.Asn11Asp) | gnomAD v4 |
| 10 | g.119030456A>T | CA378273063 | NANOS1 | c.655A>T (p.Asn219Tyr) c.31A>T (p.Asn11Tyr) | |
| 10 | g.119030457del | CA2789688081 | NANOS1 | c.656del (p.Asn219ThrfsTer?) c.32del (p.Asn11ThrfsTer?) | |
| 10 | g.119030461_119030463del | CA596577582 | NANOS1 | c.660_662del (p.Asn220del) c.36_38del (p.Asn12del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030457A>C | CA378273067 | NANOS1 | c.656A>C (p.Asn219Thr) c.32A>C (p.Asn11Thr) | |
| 10 | g.119030457A>G | CA378273070 | NANOS1 | c.656A>G (p.Asn219Ser) c.32A>G (p.Asn11Ser) | gnomAD v4 |
| 10 | g.119030457A>T | CA378273069 | NANOS1 | c.656A>T (p.Asn219Ile) c.32A>T (p.Asn11Ile) | |
| 10 | g.119030458C>A | CA378273072 | NANOS1 | c.657C>A (p.Asn219Lys) c.33C>A (p.Asn11Lys) | gnomAD v4 |
| 10 | g.119030458C>G | CA378273073 | NANOS1 | c.657C>G (p.Asn219Lys) c.33C>G (p.Asn11Lys) | ClinVar |
| 10 | g.119030458C>T | CA471738295 | NANOS1 | c.657C>T (p.Asn219=) c.33C>T (p.Asn11=) | gnomAD v4 |
| 10 | g.119030459A>C | CA378273075 | NANOS1 | c.658A>C (p.Asn220His) c.34A>C (p.Asn12His) | |
| 10 | g.119030459A>G | CA378273078 | NANOS1 | c.658A>G (p.Asn220Asp) c.34A>G (p.Asn12Asp) | gnomAD v4 |
| 10 | g.119030459A>T | CA378273077 | NANOS1 | c.658A>T (p.Asn220Tyr) c.34A>T (p.Asn12Tyr) | |
| 10 | g.119030460A= | CA1939897133 | NANOS1 | c.659A= (p.Asn220=) c.35A= (p.Asn12=) | |
| 10 | g.119030460A>C | CA378273080 | NANOS1 | c.659A>C (p.Asn220Thr) c.35A>C (p.Asn12Thr) | |
| 10 | g.119030460A>G | CA378273083 | NANOS1 | c.659A>G (p.Asn220Ser) c.35A>G (p.Asn12Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030460A>T | CA378273085 | NANOS1 | c.659A>T (p.Asn220Ile) c.35A>T (p.Asn12Ile) | gnomAD v4 |
| 10 | g.119030461C>A | CA378273087 | NANOS1 | c.660C>A (p.Asn220Lys) c.36C>A (p.Asn12Lys) | gnomAD v4 |
| 10 | g.119030461C= | CA1939897134 | NANOS1 | c.660C= (p.Asn220=) c.36C= (p.Asn12=) | |
| 10 | g.119030461C>G | CA5712797 | NANOS1 | c.660C>G (p.Asn220Lys) c.36C>G (p.Asn12Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030461C>T | CA471738296 | NANOS1 | c.660C>T (p.Asn220=) c.36C>T (p.Asn12=) | gnomAD v4 |
| 10 | g.119030462A>C | CA378273089 | NANOS1 | c.661A>C (p.Lys221Gln) c.37A>C (p.Lys13Gln) | gnomAD v4 |
| 10 | g.119030462A>G | CA378273091 | NANOS1 | c.661A>G (p.Lys221Glu) c.37A>G (p.Lys13Glu) | gnomAD v4 |
| 10 | g.119030462A>T | CA378273092 | NANOS1 | c.661A>T (p.Lys221Ter) c.37A>T (p.Lys13Ter) | |
| 10 | g.119030463del | CA2611121523 | NANOS1 | c.662del (p.Lys221ArgfsTer?) c.38del (p.Lys13ArgfsTer?) | gnomAD v4 |
| 10 | g.119030463A= | CA1939897135 | NANOS1 | c.662A= (p.Lys221=) c.38A= (p.Lys13=) | |
| 10 | g.119030463A>C | CA378273093 | NANOS1 | c.662A>C (p.Lys221Thr) c.38A>C (p.Lys13Thr) | gnomAD v4 |
| 10 | g.119030463A>G | CA5712798 | NANOS1 | c.662A>G (p.Lys221Arg) c.38A>G (p.Lys13Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030463A>T | CA378273094 | NANOS1 | c.662A>T (p.Lys221Met) c.38A>T (p.Lys13Met) | |
| 10 | g.119030464G>A | CA471738297 | NANOS1 | c.663G>A (p.Lys221=) c.39G>A (p.Lys13=) | gnomAD v4 |
| 10 | g.119030464G>C | CA378273097 | NANOS1 | c.663G>C (p.Lys221Asn) c.39G>C (p.Lys13Asn) | gnomAD v4 |
| 10 | g.119030464G>T | CA378273096 | NANOS1 | c.663G>T (p.Lys221Asn) c.39G>T (p.Lys13Asn) | gnomAD v4 |
| 10 | g.119030465G>A | CA378273099 | NANOS1 | c.664G>A (p.Glu222Lys) c.40G>A (p.Glu14Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030465G>C | CA378273100 | NANOS1 | c.664G>C (p.Glu222Gln) c.40G>C (p.Glu14Gln) | gnomAD v4 |
| 10 | g.119030465G= | CA1939897136 | NANOS1 | c.664G= (p.Glu222=) c.40G= (p.Glu14=) | |
| 10 | g.119030465G>T | CA378273102 | NANOS1 | c.664G>T (p.Glu222Ter) c.40G>T (p.Glu14Ter) | gnomAD v4 |
| 10 | g.119030466del | CA2611121534 | NANOS1 | c.665del (p.Glu222GlyfsTer?) c.41del (p.Glu14GlyfsTer?) | gnomAD v4 |
| 10 | g.119030466A>C | CA378273103 | NANOS1 | c.665A>C (p.Glu222Ala) c.41A>C (p.Glu14Ala) | |
| 10 | g.119030466A>G | CA378273104 | NANOS1 | c.665A>G (p.Glu222Gly) c.41A>G (p.Glu14Gly) | gnomAD v4 |
| 10 | g.119030466A>T | CA378273106 | NANOS1 | c.665A>T (p.Glu222Val) c.41A>T (p.Glu14Val) | gnomAD v4 |
| 10 | g.119030467G>A | CA471738298 | NANOS1 | c.666G>A (p.Glu222=) c.42G>A (p.Glu14=) | gnomAD v4 |
| 10 | g.119030467G>C | CA378273107 | NANOS1 | c.666G>C (p.Glu222Asp) c.42G>C (p.Glu14Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030467G= | CA1939897137 | NANOS1 | c.666G= (p.Glu222=) c.42G= (p.Glu14=) | |
| 10 | g.119030467G>T | CA378273109 | NANOS1 | c.666G>T (p.Glu222Asp) c.42G>T (p.Glu14Asp) | gnomAD v4 |
| 10 | g.119030468G>A | CA378273111 | NANOS1 | c.667G>A (p.Ala223Thr) c.43G>A (p.Ala15Thr) | gnomAD v4 |
| 10 | g.119030468G>C | CA378273112 | NANOS1 | c.667G>C (p.Ala223Pro) c.43G>C (p.Ala15Pro) | gnomAD v4 |
| 10 | g.119030468G>T | CA378273113 | NANOS1 | c.667G>T (p.Ala223Ser) c.43G>T (p.Ala15Ser) | gnomAD v4 |
| 10 | g.119030469C>A | CA378273115 | NANOS1 | c.668C>A (p.Ala223Glu) c.44C>A (p.Ala15Glu) | gnomAD v4 |
| 10 | g.119030469C= | CA1939897138 | NANOS1 | c.668C= (p.Ala223=) c.44C= (p.Ala15=) | |
| 10 | g.119030469C>G | CA378273116 | NANOS1 | c.668C>G (p.Ala223Gly) c.44C>G (p.Ala15Gly) | dbSNP gnomAD v4 |
| 10 | g.119030469C>T | CA5712799 | NANOS1 | c.668C>T (p.Ala223Val) c.44C>T (p.Ala15Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030470G>A | CA471738299 | NANOS1 | c.669G>A (p.Ala223=) c.45G>A (p.Ala15=) | gnomAD v4 |
| 10 | g.119030470G>C | CA471738300 | NANOS1 | c.669G>C (p.Ala223=) c.45G>C (p.Ala15=) | dbSNP gnomAD v4 |
| 10 | g.119030470G= | CA1939897139 | NANOS1 | c.669G= (p.Ala223=) c.45G= (p.Ala15=) | |
| 10 | g.119030470G>T | CA471738301 | NANOS1 | c.669G>T (p.Ala223=) c.45G>T (p.Ala15=) | gnomAD v4 |
| 10 | g.119030471A>C | CA378273117 | NANOS1 | c.670A>C (p.Met224Leu) c.46A>C (p.Met16Leu) | |
| 10 | g.119030471A>G | CA378273118 | NANOS1 | c.670A>G (p.Met224Val) c.46A>G (p.Met16Val) | ClinVar gnomAD v4 |
| 10 | g.119030471A>T | CA378273120 | NANOS1 | c.670A>T (p.Met224Leu) c.46A>T (p.Met16Leu) | |
| 10 | g.119030472T>A | CA378273122 | NANOS1 | c.671T>A (p.Met224Lys) c.47T>A (p.Met16Lys) | |
| 10 | g.119030472T>C | CA378273124 | NANOS1 | c.671T>C (p.Met224Thr) c.47T>C (p.Met16Thr) | dbSNP gnomAD v4 |
| 10 | g.119030472T>G | CA378273125 | NANOS1 | c.671T>G (p.Met224Arg) c.47T>G (p.Met16Arg) | |
| 10 | g.119030473G>A | CA378273127 | NANOS1 | c.672G>A (p.Met224Ile) c.48G>A (p.Met16Ile) | gnomAD v4 |
| 10 | g.119030473G>C | CA378273128 | NANOS1 | c.672G>C (p.Met224Ile) c.48G>C (p.Met16Ile) | |
| 10 | g.119030473G>T | CA378273129 | NANOS1 | c.672G>T (p.Met224Ile) c.48G>T (p.Met16Ile) | gnomAD v4 |
| 10 | g.119030474G>A | CA378273130 | NANOS1 | c.673G>A (p.Ala225Thr) c.49G>A (p.Ala17Thr) | gnomAD v4 |
| 10 | g.119030474G>C | CA378273131 | NANOS1 | c.673G>C (p.Ala225Pro) c.49G>C (p.Ala17Pro) | |
| 10 | g.119030474G>T | CA378273132 | NANOS1 | c.673G>T (p.Ala225Ser) c.49G>T (p.Ala17Ser) | gnomAD v4 |
| 10 | g.119030475C>A | CA378273136 | NANOS1 | c.674C>A (p.Ala225Glu) c.50C>A (p.Ala17Glu) | gnomAD v4 |
| 10 | g.119030475C= | CA1939897140 | NANOS1 | c.674C= (p.Ala225=) c.50C= (p.Ala17=) | |
| 10 | g.119030475C>G | CA5712800 | NANOS1 | c.674C>G (p.Ala225Gly) c.50C>G (p.Ala17Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030475C>T | CA378273134 | NANOS1 | c.674C>T (p.Ala225Val) c.50C>T (p.Ala17Val) | gnomAD v4 |
| 10 | g.119030476G>A | CA471738303 | NANOS1 | c.675G>A (p.Ala225=) c.51G>A (p.Ala17=) | gnomAD v4 |
| 10 | g.119030476G>C | CA471738304 | NANOS1 | c.675G>C (p.Ala225=) c.51G>C (p.Ala17=) | |
| 10 | g.119030476G>T | CA471738302 | NANOS1 | c.675G>T (p.Ala225=) c.51G>T (p.Ala17=) | gnomAD v4 |
| 10 | g.119030477C>A | CA378273137 | NANOS1 | c.676C>A (p.Leu226Ile) c.52C>A (p.Leu18Ile) | gnomAD v4 |
| 10 | g.119030477C= | CA1939897141 | NANOS1 | c.676C= (p.Leu226=) c.52C= (p.Leu18=) | |
| 10 | g.119030477C>G | CA378273139 | NANOS1 | c.676C>G (p.Leu226Val) c.52C>G (p.Leu18Val) | gnomAD v4 |
| 10 | g.119030477C>T | CA378273141 | NANOS1 | c.676C>T (p.Leu226Phe) c.52C>T (p.Leu18Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030478T>A | CA378273142 | NANOS1 | c.677T>A (p.Leu226His) c.53T>A (p.Leu18His) | |
| 10 | g.119030478T>C | CA378273144 | NANOS1 | c.677T>C (p.Leu226Pro) c.53T>C (p.Leu18Pro) | gnomAD v4 |
| 10 | g.119030478T>G | CA5712801 | NANOS1 | c.677T>G (p.Leu226Arg) c.53T>G (p.Leu18Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030478T= | CA1939897142 | NANOS1 | c.677T= (p.Leu226=) c.53T= (p.Leu18=) | |
| 10 | g.119030479C>A | CA471738306 | NANOS1 | c.678C>A (p.Leu226=) c.54C>A (p.Leu18=) | gnomAD v4 |
| 10 | g.119030479C= | CA1939897143 | NANOS1 | c.678C= (p.Leu226=) c.54C= (p.Leu18=) | |
| 10 | g.119030479C>G | CA5712802 | NANOS1 | c.678C>G (p.Leu226=) c.54C>G (p.Leu18=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119030479C>T | CA471738305 | NANOS1 | c.678C>T (p.Leu226=) c.54C>T (p.Leu18=) | gnomAD v4 |
| 10 | g.119030480T>A | CA378273147 | NANOS1 | c.679T>A (p.Tyr227Asn) c.55T>A (p.Tyr19Asn) | |
| 10 | g.119030480T>C | CA378273148 | NANOS1 | c.679T>C (p.Tyr227His) c.55T>C (p.Tyr19His) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030480T>G | CA378273152 | NANOS1 | c.679T>G (p.Tyr227Asp) c.55T>G (p.Tyr19Asp) | |
| 10 | g.119030480T= | CA1939897144 | NANOS1 | c.679T= (p.Tyr227=) c.55T= (p.Tyr19=) | |
| 10 | g.119030481A>C | CA378273154 | NANOS1 | c.680A>C (p.Tyr227Ser) c.56A>C (p.Tyr19Ser) | |
| 10 | g.119030481A>G | CA378273155 | NANOS1 | c.680A>G (p.Tyr227Cys) c.56A>G (p.Tyr19Cys) | gnomAD v4 |
| 10 | g.119030481A>T | CA378273157 | NANOS1 | c.680A>T (p.Tyr227Phe) c.56A>T (p.Tyr19Phe) | gnomAD v4 |
| 10 | g.119030482C>A | CA378273159 | NANOS1 | c.681C>A (p.Tyr227Ter) c.57C>A (p.Tyr19Ter) | gnomAD v4 |
| 10 | g.119030482C= | CA1939897145 | NANOS1 | c.681C= (p.Tyr227=) c.57C= (p.Tyr19=) | |
| 10 | g.119030482C>G | CA378273161 | NANOS1 | c.681C>G (p.Tyr227Ter) c.57C>G (p.Tyr19Ter) | |
| 10 | g.119030482C>T | CA471738307 | NANOS1 | c.681C>T (p.Tyr227=) c.57C>T (p.Tyr19=) | dbSNP gnomAD v4 |
| 10 | g.119030483A>C | CA378273163 | NANOS1 | c.682A>C (p.Thr228Pro) c.58A>C (p.Thr20Pro) | |
| 10 | g.119030483A>G | CA378273166 | NANOS1 | c.682A>G (p.Thr228Ala) c.58A>G (p.Thr20Ala) | gnomAD v4 |
| 10 | g.119030483A>T | CA378273164 | NANOS1 | c.682A>T (p.Thr228Ser) c.58A>T (p.Thr20Ser) | gnomAD v4 |
| 10 | g.119030484C>A | CA378273168 | NANOS1 | c.683C>A (p.Thr228Asn) c.59C>A (p.Thr20Asn) | gnomAD v4 |
| 10 | g.119030484C>G | CA378273170 | NANOS1 | c.683C>G (p.Thr228Ser) c.59C>G (p.Thr20Ser) | |
| 10 | g.119030484C>T | CA378273171 | NANOS1 | c.683C>T (p.Thr228Ile) c.59C>T (p.Thr20Ile) | gnomAD v4 |
| 10 | g.119030484_119030485del | CA2611121578 | NANOS1 | c.683_684del (p.Thr228AsnfsTer?) c.59_60del (p.Thr20AsnfsTer?) | gnomAD v4 |
| 10 | g.119030485C>A | CA471738308 | NANOS1 | c.684C>A (p.Thr228=) c.60C>A (p.Thr20=) | gnomAD v4 |
| 10 | g.119030485C= | CA1939897146 | NANOS1 | c.684C= (p.Thr228=) c.60C= (p.Thr20=) | |
| 10 | g.119030485C>G | CA471738309 | NANOS1 | c.684C>G (p.Thr228=) c.60C>G (p.Thr20=) | gnomAD v4 |
| 10 | g.119030485C>T | CA5712803 | NANOS1 | c.684C>T (p.Thr228=) c.60C>T (p.Thr20=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030486A>C | CA378273175 | NANOS1 | c.685A>C (p.Thr229Pro) c.61A>C (p.Thr21Pro) | |
| 10 | g.119030486A>G | CA378273176 | NANOS1 | c.685A>G (p.Thr229Ala) c.61A>G (p.Thr21Ala) | gnomAD v4 |
| 10 | g.119030486A>T | CA378273178 | NANOS1 | c.685A>T (p.Thr229Ser) c.61A>T (p.Thr21Ser) | gnomAD v4 |
| 10 | g.119030487C>A | CA378273179 | NANOS1 | c.686C>A (p.Thr229Asn) c.62C>A (p.Thr21Asn) | gnomAD v4 |
| 10 | g.119030487C>G | CA378273181 | NANOS1 | c.686C>G (p.Thr229Ser) c.62C>G (p.Thr21Ser) | gnomAD v4 |
| 10 | g.119030487C>T | CA378273183 | NANOS1 | c.686C>T (p.Thr229Ile) c.62C>T (p.Thr21Ile) | gnomAD v4 |
| 10 | g.119030489del | CA2611121588 | NANOS1 | c.688del (p.His230IlefsTer?) c.64del (p.His22IlefsTer?) | gnomAD v4 |
| 10 | g.119030488C>A | CA471738310 | NANOS1 | c.687C>A (p.Thr229=) c.63C>A (p.Thr21=) | gnomAD v4 |
| 10 | g.119030488C= | CA1939897147 | NANOS1 | c.687C= (p.Thr229=) c.63C= (p.Thr21=) | |
| 10 | g.119030488C>G | CA471738311 | NANOS1 | c.687C>G (p.Thr229=) c.63C>G (p.Thr21=) | gnomAD v4 |
| 10 | g.119030488C>T | CA5712804 | NANOS1 | c.687C>T (p.Thr229=) c.63C>T (p.Thr21=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030489C>A | CA378273189 | NANOS1 | c.688C>A (p.His230Asn) c.64C>A (p.His22Asn) | gnomAD v4 |
| 10 | g.119030489C= | CA1939897148 | NANOS1 | c.688C= (p.His230=) c.64C= (p.His22=) | |
| 10 | g.119030489C>G | CA378273185 | NANOS1 | c.688C>G (p.His230Asp) c.64C>G (p.His22Asp) | gnomAD v4 |
| 10 | g.119030489C>T | CA378273187 | NANOS1 | c.688C>T (p.His230Tyr) c.64C>T (p.His22Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030490A>C | CA378273190 | NANOS1 | c.689A>C (p.His230Pro) c.65A>C (p.His22Pro) | |
| 10 | g.119030490A>G | CA378273191 | NANOS1 | c.689A>G (p.His230Arg) c.65A>G (p.His22Arg) | gnomAD v4 |
| 10 | g.119030490A>T | CA378273193 | NANOS1 | c.689A>T (p.His230Leu) c.65A>T (p.His22Leu) | gnomAD v4 |
| 10 | g.119030491T>A | CA378273194 | NANOS1 | c.690T>A (p.His230Gln) c.66T>A (p.His22Gln) | gnomAD v4 |
| 10 | g.119030491T>C | CA471738312 | NANOS1 | c.690T>C (p.His230=) c.66T>C (p.His22=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030491T>G | CA378273196 | NANOS1 | c.690T>G (p.His230Gln) c.66T>G (p.His22Gln) | |
| 10 | g.119030491T= | CA1939897149 | NANOS1 | c.690T= (p.His230=) c.66T= (p.His22=) | |
| 10 | g.119030492A= | CA1939897150 | NANOS1 | c.691A= (p.Ile231=) c.67A= (p.Ile23=) | |
| 10 | g.119030492A>C | CA378273197 | NANOS1 | c.691A>C (p.Ile231Leu) c.67A>C (p.Ile23Leu) | |
| 10 | g.119030492A>G | CA378273199 | NANOS1 | c.691A>G (p.Ile231Val) c.67A>G (p.Ile23Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030492A>T | CA378273200 | NANOS1 | c.691A>T (p.Ile231Phe) c.67A>T (p.Ile23Phe) | |
| 10 | g.119030493T>A | CA378273202 | NANOS1 | c.692T>A (p.Ile231Asn) c.68T>A (p.Ile23Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030493T>C | CA378273204 | NANOS1 | c.692T>C (p.Ile231Thr) c.68T>C (p.Ile23Thr) | gnomAD v4 |
| 10 | g.119030493T>G | CA378273205 | NANOS1 | c.692T>G (p.Ile231Ser) c.68T>G (p.Ile23Ser) | gnomAD v4 |
| 10 | g.119030493T= | CA1939897151 | NANOS1 | c.692T= (p.Ile231=) c.68T= (p.Ile23=) | |
| 10 | g.119030495_119030497del | CA2570781704 | NANOS1 | c.694_696del (p.Leu232del) c.70_72del (p.Leu24del) | |
| 10 | g.119030494C>A | CA471738313 | NANOS1 | c.693C>A (p.Ile231=) c.69C>A (p.Ile23=) | gnomAD v4 |
| 10 | g.119030494C= | CA1939897152 | NANOS1 | c.693C= (p.Ile231=) c.69C= (p.Ile23=) | |
| 10 | g.119030494C>G | CA378273208 | NANOS1 | c.693C>G (p.Ile231Met) c.69C>G (p.Ile23Met) | |
| 10 | g.119030494C>T | CA5712805 | NANOS1 | c.693C>T (p.Ile231=) c.69C>T (p.Ile23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030495C>A | CA378273210 | NANOS1 | c.694C>A (p.Leu232Ile) c.70C>A (p.Leu24Ile) | gnomAD v4 |
| 10 | g.119030495C= | CA1939897153 | NANOS1 | c.694C= (p.Leu232=) c.70C= (p.Leu24=) | |
| 10 | g.119030495C>G | CA378273211 | NANOS1 | c.694C>G (p.Leu232Val) c.70C>G (p.Leu24Val) | |
| 10 | g.119030495C>T | CA5712806 | NANOS1 | c.694C>T (p.Leu232Phe) c.70C>T (p.Leu24Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030496T>A | CA378273213 | NANOS1 | c.695T>A (p.Leu232His) c.71T>A (p.Leu24His) | |
| 10 | g.119030496T>C | CA378273214 | NANOS1 | c.695T>C (p.Leu232Pro) c.71T>C (p.Leu24Pro) | gnomAD v4 |
| 10 | g.119030496T>G | CA378273215 | NANOS1 | c.695T>G (p.Leu232Arg) c.71T>G (p.Leu24Arg) | |
| 10 | g.119030497del | CA2611121614 | NANOS1 | c.696del (p.Lys233ArgfsTer?) c.72del (p.Lys25ArgfsTer?) | gnomAD v4 |
| 10 | g.119030497C>A | CA471738315 | NANOS1 | c.696C>A (p.Leu232=) c.72C>A (p.Leu24=) | gnomAD v4 |
| 10 | g.119030497C= | CA1939897154 | NANOS1 | c.696C= (p.Leu232=) c.72C= (p.Leu24=) | |
| 10 | g.119030497C>G | CA471738316 | NANOS1 | c.696C>G (p.Leu232=) c.72C>G (p.Leu24=) | |
| 10 | g.119030497C>T | CA471738314 | NANOS1 | c.696C>T (p.Leu232=) c.72C>T (p.Leu24=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030498A= | CA1939897155 | NANOS1 | c.697A= (p.Lys233=) c.73A= (p.Lys25=) | |
| 10 | g.119030498A>C | CA378273219 | NANOS1 | c.697A>C (p.Lys233Gln) c.73A>C (p.Lys25Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.119030498A>G | CA378273216 | NANOS1 | c.697A>G (p.Lys233Glu) c.73A>G (p.Lys25Glu) | gnomAD v4 |
| 10 | g.119030498A>T | CA378273217 | NANOS1 | c.697A>T (p.Lys233Ter) c.73A>T (p.Lys25Ter) | gnomAD v4 |
| 10 | g.119030499del | CA2611121623 | NANOS1 | c.698del (p.Lys233ArgfsTer?) c.74del (p.Lys25ArgfsTer?) | gnomAD v4 |
| 10 | g.119030499A>C | CA378273221 | NANOS1 | c.698A>C (p.Lys233Thr) c.74A>C (p.Lys25Thr) | gnomAD v4 |
| 10 | g.119030499A>G | CA378273222 | NANOS1 | c.698A>G (p.Lys233Arg) c.74A>G (p.Lys25Arg) | gnomAD v4 |
| 10 | g.119030499A>T | CA378273223 | NANOS1 | c.698A>T (p.Lys233Met) c.74A>T (p.Lys25Met) | |
| 10 | g.119030500G>A | CA471738317 | NANOS1 | c.699G>A (p.Lys233=) c.75G>A (p.Lys25=) | dbSNP gnomAD v4 |
| 10 | g.119030500G>C | CA378273225 | NANOS1 | c.699G>C (p.Lys233Asn) c.75G>C (p.Lys25Asn) | |
| 10 | g.119030500G= | CA1939897156 | NANOS1 | c.699G= (p.Lys233=) c.75G= (p.Lys25=) | |
| 10 | g.119030500G>T | CA378273227 | NANOS1 | c.699G>T (p.Lys233Asn) c.75G>T (p.Lys25Asn) | gnomAD v4 |
| 10 | g.119030502del | CA2611121628 | NANOS1 | c.701del (p.Gly234AlafsTer?) c.77del (p.Gly26AlafsTer?) | gnomAD v4 |
| 10 | g.119030501G>A | CA378273229 | NANOS1 | c.700G>A (p.Gly234Ser) c.76G>A (p.Gly26Ser) | gnomAD v4 |
| 10 | g.119030501G>C | CA378273231 | NANOS1 | c.700G>C (p.Gly234Arg) c.76G>C (p.Gly26Arg) | |
| 10 | g.119030501G>T | CA378273230 | NANOS1 | c.700G>T (p.Gly234Cys) c.76G>T (p.Gly26Cys) | gnomAD v4 |
| 10 | g.119030502G>A | CA378273233 | NANOS1 | c.701G>A (p.Gly234Asp) c.77G>A (p.Gly26Asp) | gnomAD v4 |
| 10 | g.119030502G>C | CA378273235 | NANOS1 | c.701G>C (p.Gly234Ala) c.77G>C (p.Gly26Ala) | gnomAD v4 |
| 10 | g.119030502G>T | CA378273237 | NANOS1 | c.701G>T (p.Gly234Val) c.77G>T (p.Gly26Val) | gnomAD v4 |
| 10 | g.119030502_119030503delinsGC | CA1939897157 | NANOS1 | c.701_702delinsGC (p.Gly234=) c.77_78delinsGC (p.Gly26=) | |
| 10 | g.119030503C>A | CA471738318 | NANOS1 | c.702C>A (p.Gly234=) c.78C>A (p.Gly26=) | gnomAD v4 |
| 10 | g.119030503C>G | CA471738319 | NANOS1 | c.702C>G (p.Gly234=) c.78C>G (p.Gly26=) | gnomAD v4 |
| 10 | g.119030503C>T | CA471738320 | NANOS1 | c.702C>T (p.Gly234=) c.78C>T (p.Gly26=) | gnomAD v4 |
| 10 | g.119030506del | CA596577583 | NANOS1 | c.705del (p.Asp236ThrfsTer?) c.81del (p.Asp28ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030504C>A | CA378273238 | NANOS1 | c.703C>A (p.Pro235Thr) c.79C>A (p.Pro27Thr) | gnomAD v4 |
| 10 | g.119030504C= | CA1939897158 | NANOS1 | c.703C= (p.Pro235=) c.79C= (p.Pro27=) | |
| 10 | g.119030504C>G | CA378273239 | NANOS1 | c.703C>G (p.Pro235Ala) c.79C>G (p.Pro27Ala) | gnomAD v4 |
| 10 | g.119030504C>T | CA378273240 | NANOS1 | c.703C>T (p.Pro235Ser) c.79C>T (p.Pro27Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030505C>A | CA378273243 | NANOS1 | c.704C>A (p.Pro235His) c.80C>A (p.Pro27His) | gnomAD v4 |
| 10 | g.119030505C>G | CA378273245 | NANOS1 | c.704C>G (p.Pro235Arg) c.80C>G (p.Pro27Arg) | |
| 10 | g.119030505C>T | CA378273246 | NANOS1 | c.704C>T (p.Pro235Leu) c.80C>T (p.Pro27Leu) | gnomAD v4 |
| 10 | g.119030506C>A | CA471738321 | NANOS1 | c.705C>A (p.Pro235=) c.81C>A (p.Pro27=) | gnomAD v4 |
| 10 | g.119030506C>G | CA471738322 | NANOS1 | c.705C>G (p.Pro235=) c.81C>G (p.Pro27=) | gnomAD v4 |
| 10 | g.119030506C>T | CA471738323 | NANOS1 | c.705C>T (p.Pro235=) c.81C>T (p.Pro27=) | gnomAD v4 |
| 10 | g.119030507G>A | CA378273248 | NANOS1 | c.706G>A (p.Asp236Asn) c.82G>A (p.Asp28Asn) | gnomAD v4 |
| 10 | g.119030507G>C | CA378273250 | NANOS1 | c.706G>C (p.Asp236His) c.82G>C (p.Asp28His) | |
| 10 | g.119030507G>T | CA378273251 | NANOS1 | c.706G>T (p.Asp236Tyr) c.82G>T (p.Asp28Tyr) | gnomAD v4 |
| 10 | g.119030508A= | CA1939897159 | NANOS1 | c.707A= (p.Asp236=) c.83A= (p.Asp28=) | |
| 10 | g.119030508A>C | CA378273254 | NANOS1 | c.707A>C (p.Asp236Ala) c.83A>C (p.Asp28Ala) | |
| 10 | g.119030508A>G | CA378273256 | NANOS1 | c.707A>G (p.Asp236Gly) c.83A>G (p.Asp28Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030508A>T | CA378273253 | NANOS1 | c.707A>T (p.Asp236Val) c.83A>T (p.Asp28Val) | gnomAD v4 |
| 10 | g.119030509C>A | CA378273259 | NANOS1 | c.708C>A (p.Asp236Glu) c.84C>A (p.Asp28Glu) | gnomAD v4 |
| 10 | g.119030509C= | CA1939897160 | NANOS1 | c.708C= (p.Asp236=) c.84C= (p.Asp28=) | |
| 10 | g.119030509C>G | CA378273258 | NANOS1 | c.708C>G (p.Asp236Glu) c.84C>G (p.Asp28Glu) | gnomAD v4 |
| 10 | g.119030509C>T | CA5712807 | NANOS1 | c.708C>T (p.Asp236=) c.84C>T (p.Asp28=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030510G>A | CA378273263 | NANOS1 | c.709G>A (p.Gly237Arg) c.85G>A (p.Gly29Arg) | gnomAD v4 |
| 10 | g.119030510G>C | CA378273264 | NANOS1 | c.709G>C (p.Gly237Arg) c.85G>C (p.Gly29Arg) | gnomAD v4 |
| 10 | g.119030510G>T | CA378273265 | NANOS1 | c.709G>T (p.Gly237Trp) c.85G>T (p.Gly29Trp) | gnomAD v4 |
| 10 | g.119030511G>A | CA378273267 | NANOS1 | c.710G>A (p.Gly237Glu) c.86G>A (p.Gly29Glu) | gnomAD v4 |
| 10 | g.119030511G>C | CA378273268 | NANOS1 | c.710G>C (p.Gly237Ala) c.86G>C (p.Gly29Ala) | gnomAD v4 |
| 10 | g.119030511G>T | CA378273270 | NANOS1 | c.710G>T (p.Gly237Val) c.86G>T (p.Gly29Val) | gnomAD v4 |
| 10 | g.119030512G>A | CA471738324 | NANOS1 | c.711G>A (p.Gly237=) c.87G>A (p.Gly29=) | gnomAD v4 |
| 10 | g.119030512G>C | CA471738325 | NANOS1 | c.711G>C (p.Gly237=) c.87G>C (p.Gly29=) | gnomAD v4 |
| 10 | g.119030512G>T | CA471738326 | NANOS1 | c.711G>T (p.Gly237=) c.87G>T (p.Gly29=) | gnomAD v4 |
| 10 | g.119030513C>A | CA471738327 | NANOS1 | c.712C>A (p.Arg238=) c.88C>A (p.Arg30=) | gnomAD v4 |
| 10 | g.119030513C= | CA1939897161 | NANOS1 | c.712C= (p.Arg238=) c.88C= (p.Arg30=) | |
| 10 | g.119030513C>G | CA378273272 | NANOS1 | c.712C>G (p.Arg238Gly) c.88C>G (p.Arg30Gly) | |
| 10 | g.119030513C>T | CA5712808 | NANOS1 | c.712C>T (p.Arg238Ter) c.88C>T (p.Arg30Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119030514G>A | CA378273273 | NANOS1 | c.713G>A (p.Arg238Gln) c.89G>A (p.Arg30Gln) | dbSNP gnomAD v4 COSMIC |
| 10 | g.119030514G>C | CA378273275 | NANOS1 | c.713G>C (p.Arg238Pro) c.89G>C (p.Arg30Pro) | |
| 10 | g.119030514G= | CA1939897162 | NANOS1 | c.713G= (p.Arg238=) c.89G= (p.Arg30=) | |
| 10 | g.119030514G>T | CA378273276 | NANOS1 | c.713G>T (p.Arg238Leu) c.89G>T (p.Arg30Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030515A>C | CA471738328 | NANOS1 | c.714A>C (p.Arg238=) c.90A>C (p.Arg30=) | |
| 10 | g.119030515A>G | CA471738329 | NANOS1 | c.714A>G (p.Arg238=) c.90A>G (p.Arg30=) | gnomAD v4 |
| 10 | g.119030515A>T | CA471738330 | NANOS1 | c.714A>T (p.Arg238=) c.90A>T (p.Arg30=) | gnomAD v4 |
| 10 | g.119030516G>A | CA378273278 | NANOS1 | c.715G>A (p.Val239Met) c.91G>A (p.Val31Met) | gnomAD v4 |
| 10 | g.119030516G>C | CA378273280 | NANOS1 | c.715G>C (p.Val239Leu) c.91G>C (p.Val31Leu) | |
| 10 | g.119030516G>T | CA378273282 | NANOS1 | c.715G>T (p.Val239Leu) c.91G>T (p.Val31Leu) | gnomAD v4 |
| 10 | g.119030517T>A | CA378273285 | NANOS1 | c.716T>A (p.Val239Glu) c.92T>A (p.Val31Glu) | |
| 10 | g.119030517T>C | CA378273289 | NANOS1 | c.716T>C (p.Val239Ala) c.92T>C (p.Val31Ala) | gnomAD v4 |
| 10 | g.119030517T>G | CA378273288 | NANOS1 | c.716T>G (p.Val239Gly) c.92T>G (p.Val31Gly) | |
| 10 | g.119030518del | CA2789688092 | NANOS1 | c.717del (p.Leu240CysfsTer?) c.93del (p.Leu32CysfsTer?) | |
| 10 | g.119030518G>A | CA471738331 | NANOS1 | c.717G>A (p.Val239=) c.93G>A (p.Val31=) | gnomAD v4 |
| 10 | g.119030518G>C | CA471738332 | NANOS1 | c.717G>C (p.Val239=) c.93G>C (p.Val31=) | gnomAD v4 |
| 10 | g.119030518G>T | CA471738333 | NANOS1 | c.717G>T (p.Val239=) c.93G>T (p.Val31=) | gnomAD v4 |
| 10 | g.119030519C>A | CA378273290 | NANOS1 | c.718C>A (p.Leu240Met) c.94C>A (p.Leu32Met) | gnomAD v4 |
| 10 | g.119030519C= | CA1939897163 | NANOS1 | c.718C= (p.Leu240=) c.94C= (p.Leu32=) | |
| 10 | g.119030519C>G | CA378273291 | NANOS1 | c.718C>G (p.Leu240Val) c.94C>G (p.Leu32Val) | gnomAD v4 |
| 10 | g.119030519C>T | CA471738334 | NANOS1 | c.718C>T (p.Leu240=) c.94C>T (p.Leu32=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030520T>A | CA5712809 | NANOS1 | c.719T>A (p.Leu240Gln) c.95T>A (p.Leu32Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030520T>C | CA378273292 | NANOS1 | c.719T>C (p.Leu240Pro) c.95T>C (p.Leu32Pro) | gnomAD v4 |
| 10 | g.119030520T>G | CA378273293 | NANOS1 | c.719T>G (p.Leu240Arg) c.95T>G (p.Leu32Arg) | gnomAD v4 |
| 10 | g.119030520T= | CA1939897164 | NANOS1 | c.719T= (p.Leu240=) c.95T= (p.Leu32=) | |
| 10 | g.119030523_119030524del | CA2611121671 | NANOS1 | c.722_723del (p.Cys241SerfsTer?) c.98_99del (p.Cys33SerfsTer?) | gnomAD v4 |
| 10 | g.119030521G>A | CA471738335 | NANOS1 | c.720G>A (p.Leu240=) c.96G>A (p.Leu32=) | gnomAD v4 |
| 10 | g.119030521G>C | CA471738336 | NANOS1 | c.720G>C (p.Leu240=) c.96G>C (p.Leu32=) | |
| 10 | g.119030521G>T | CA471738337 | NANOS1 | c.720G>T (p.Leu240=) c.96G>T (p.Leu32=) | gnomAD v4 |
| 10 | g.119030528_119030551del | CA2611121675 | NANOS1 | c.727_750del (p.Val243_Pro250del) c.103_126del (p.Val35_Pro42del) | gnomAD v4 |
| 10 | g.119030522T>A | CA378273296 | NANOS1 | c.721T>A (p.Cys241Ser) c.97T>A (p.Cys33Ser) | gnomAD v4 |
| 10 | g.119030522T>C | CA378273303 | NANOS1 | c.721T>C (p.Cys241Arg) c.97T>C (p.Cys33Arg) | gnomAD v4 |
| 10 | g.119030522T>G | CA378273305 | NANOS1 | c.721T>G (p.Cys241Gly) c.97T>G (p.Cys33Gly) | |
| 10 | g.119030523G>A | CA378273306 | NANOS1 | c.722G>A (p.Cys241Tyr) c.98G>A (p.Cys33Tyr) | gnomAD v4 |
| 10 | g.119030523G>C | CA378273307 | NANOS1 | c.722G>C (p.Cys241Ser) c.98G>C (p.Cys33Ser) | |
| 10 | g.119030523G>T | CA378273308 | NANOS1 | c.722G>T (p.Cys241Phe) c.98G>T (p.Cys33Phe) | gnomAD v4 |
| 10 | g.119030524T>A | CA378273309 | NANOS1 | c.723T>A (p.Cys241Ter) c.99T>A (p.Cys33Ter) | gnomAD v4 |
| 10 | g.119030524T>C | CA471738338 | NANOS1 | c.723T>C (p.Cys241=) c.99T>C (p.Cys33=) | gnomAD v4 |
| 10 | g.119030524T>G | CA378273312 | NANOS1 | c.723T>G (p.Cys241Trp) c.99T>G (p.Cys33Trp) | |
| 10 | g.119030524_119030525delinsTC | CA1939897165 | NANOS1 | c.723_724delinsTC (p.Cys241=) c.99_100delinsTC (p.Cys33=) | |
| 10 | g.119030525C>A | CA378273315 | NANOS1 | c.724C>A (p.Pro242Thr) c.100C>A (p.Pro34Thr) | gnomAD v4 |
| 10 | g.119030525C= | CA1939897166 | NANOS1 | c.724C= (p.Pro242=) c.100C= (p.Pro34=) | |
| 10 | g.119030525C>G | CA378273317 | NANOS1 | c.724C>G (p.Pro242Ala) c.100C>G (p.Pro34Ala) | |
| 10 | g.119030525C>T | CA378273318 | NANOS1 | c.724C>T (p.Pro242Ser) c.100C>T (p.Pro34Ser) | dbSNP gnomAD v4 |
| 10 | g.119030527del | CA1939897167 | NANOS1 | c.726del (p.Val243CysfsTer?) c.102del (p.Val35CysfsTer?) | dbSNP |
| 10 | g.119030526C>A | CA378273319 | NANOS1 | c.725C>A (p.Pro242His) c.101C>A (p.Pro34His) | gnomAD v4 |
| 10 | g.119030526C>G | CA378273320 | NANOS1 | c.725C>G (p.Pro242Arg) c.101C>G (p.Pro34Arg) | gnomAD v4 |
| 10 | g.119030526C>T | CA378273321 | NANOS1 | c.725C>T (p.Pro242Leu) c.101C>T (p.Pro34Leu) | gnomAD v4 |
| 10 | g.119030527C>A | CA471738340 | NANOS1 | c.726C>A (p.Pro242=) c.102C>A (p.Pro34=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119030527C= | CA1939897168 | NANOS1 | c.726C= (p.Pro242=) c.102C= (p.Pro34=) | |
| 10 | g.119030527C>G | CA5712810 | NANOS1 | c.726C>G (p.Pro242=) c.102C>G (p.Pro34=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030527C>T | CA471738342 | NANOS1 | c.726C>T (p.Pro242=) c.102C>T (p.Pro34=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030528del | CA2789688093 | NANOS1 | c.727del (p.Val243CysfsTer?) c.103del (p.Val35CysfsTer?) | |
| 10 | g.119030528G>A | CA378273327 | NANOS1 | c.727G>A (p.Val243Met) c.103G>A (p.Val35Met) | gnomAD v4 |
| 10 | g.119030528G>C | CA378273331 | NANOS1 | c.727G>C (p.Val243Leu) c.103G>C (p.Val35Leu) | gnomAD v4 |
| 10 | g.119030528G>T | CA378273332 | NANOS1 | c.727G>T (p.Val243Leu) c.103G>T (p.Val35Leu) | gnomAD v4 |
| 10 | g.119030532_119030612del | CA2789688094 | NANOS1 | c.731_811del (p.Leu244_Val270del) c.107_187del (p.Leu36_Val62del) | |
| 10 | g.119030529T>A | CA378273333 | NANOS1 | c.728T>A (p.Val243Glu) c.104T>A (p.Val35Glu) | |
| 10 | g.119030529T>C | CA378273335 | NANOS1 | c.728T>C (p.Val243Ala) c.104T>C (p.Val35Ala) | gnomAD v4 |
| 10 | g.119030529T>G | CA378273336 | NANOS1 | c.728T>G (p.Val243Gly) c.104T>G (p.Val35Gly) | dbSNP |
| 10 | g.119030529T= | CA1939897169 | NANOS1 | c.728T= (p.Val243=) c.104T= (p.Val35=) | |
| 10 | g.119030530G>A | CA471738343 | NANOS1 | c.729G>A (p.Val243=) c.105G>A (p.Val35=) | gnomAD v4 |
| 10 | g.119030530G>C | CA471738345 | NANOS1 | c.729G>C (p.Val243=) c.105G>C (p.Val35=) | |
| 10 | g.119030530G>T | CA471738346 | NANOS1 | c.729G>T (p.Val243=) c.105G>T (p.Val35=) | gnomAD v4 |
| 10 | g.119030531C>A | CA378273340 | NANOS1 | c.730C>A (p.Leu244Met) c.106C>A (p.Leu36Met) | gnomAD v4 |
| 10 | g.119030531C= | CA1939897170 | NANOS1 | c.730C= (p.Leu244=) c.106C= (p.Leu36=) | |
| 10 | g.119030531C>G | CA378273338 | NANOS1 | c.730C>G (p.Leu244Val) c.106C>G (p.Leu36Val) | |
| 10 | g.119030531C>T | CA471738347 | NANOS1 | c.730C>T (p.Leu244=) c.106C>T (p.Leu36=) | dbSNP gnomAD v4 |
| 10 | g.119030532T>A | CA378273343 | NANOS1 | c.731T>A (p.Leu244Gln) c.107T>A (p.Leu36Gln) | gnomAD v4 COSMIC |
| 10 | g.119030532T>C | CA378273344 | NANOS1 | c.731T>C (p.Leu244Pro) c.107T>C (p.Leu36Pro) | gnomAD v4 |
| 10 | g.119030532T>G | CA378273347 | NANOS1 | c.731T>G (p.Leu244Arg) c.107T>G (p.Leu36Arg) | |
| 10 | g.119030533G>A | CA471738348 | NANOS1 | c.732G>A (p.Leu244=) c.108G>A (p.Leu36=) | gnomAD v4 |
| 10 | g.119030533G>C | CA471738349 | NANOS1 | c.732G>C (p.Leu244=) c.108G>C (p.Leu36=) | |
| 10 | g.119030533G= | CA1939897171 | NANOS1 | c.732G= (p.Leu244=) c.108G= (p.Leu36=) | |
| 10 | g.119030533G>T | CA471738350 | NANOS1 | c.732G>T (p.Leu244=) c.108G>T (p.Leu36=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030534C>A | CA378273350 | NANOS1 | c.733C>A (p.Arg245Ser) c.109C>A (p.Arg37Ser) | gnomAD v4 |
| 10 | g.119030534C>G | CA378273352 | NANOS1 | c.733C>G (p.Arg245Gly) c.109C>G (p.Arg37Gly) | |
| 10 | g.119030534C>T | CA378273359 | NANOS1 | c.733C>T (p.Arg245Cys) c.109C>T (p.Arg37Cys) | gnomAD v4 |
| 10 | g.119030535G>A | CA378273360 | NANOS1 | c.734G>A (p.Arg245His) c.110G>A (p.Arg37His) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119030535G>C | CA378273363 | NANOS1 | c.734G>C (p.Arg245Pro) c.110G>C (p.Arg37Pro) | |
| 10 | g.119030535G= | CA1939897172 | NANOS1 | c.734G= (p.Arg245=) c.110G= (p.Arg37=) | |
| 10 | g.119030535G>T | CA378273365 | NANOS1 | c.734G>T (p.Arg245Leu) c.110G>T (p.Arg37Leu) | gnomAD v4 |
| 10 | g.119030536C>A | CA471738353 | NANOS1 | c.735C>A (p.Arg245=) c.111C>A (p.Arg37=) | gnomAD v4 |
| 10 | g.119030536C= | CA1939897173 | NANOS1 | c.735C= (p.Arg245=) c.111C= (p.Arg37=) | |
| 10 | g.119030536C>G | CA5712811 | NANOS1 | c.735C>G (p.Arg245=) c.111C>G (p.Arg37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119030536C>T | CA471738354 | NANOS1 | c.735C>T (p.Arg245=) c.111C>T (p.Arg37=) | gnomAD v4 |
| 10 | g.119030537C>A | CA378273368 | NANOS1 | c.736C>A (p.Arg246Ser) c.112C>A (p.Arg38Ser) | gnomAD v4 |
| 10 | g.119030537C>G | CA378273370 | NANOS1 | c.736C>G (p.Arg246Gly) c.112C>G (p.Arg38Gly) | gnomAD v4 |
| 10 | g.119030537C>T | CA378273374 | NANOS1 | c.736C>T (p.Arg246Cys) c.112C>T (p.Arg38Cys) | gnomAD v4 |
| 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 |