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 |
|---|---|---|---|---|---|
| X | g.8597153C>A | CA412025190 | ANOS1 | c.422G>T (p.Ser141Ile) c.419G>T (p.Ser140Ile) | |
| X | g.8597153C= | CA2414621883 | ANOS1 | c.422G= (p.Ser141=) c.419G= (p.Ser140=) | |
| X | g.8597153C>G | CA412025191 | ANOS1 | c.422G>C (p.Ser141Thr) c.419G>C (p.Ser140Thr) | |
| X | g.8597153C>T | CA326488780 | ANOS1 | c.422G>A (p.Ser141Asn) c.419G>A (p.Ser140Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597154T>A | CA412025192 | ANOS1 | c.421A>T (p.Ser141Cys) c.418A>T (p.Ser140Cys) | |
| X | g.8597154T>C | CA412025194 | ANOS1 | c.421A>G (p.Ser141Gly) c.418A>G (p.Ser140Gly) | |
| X | g.8597154T>G | CA412025193 | ANOS1 | c.421A>C (p.Ser141Arg) c.418A>C (p.Ser140Arg) | |
| X | g.8597155G>A | CA515171912 | ANOS1 | c.420C>T (p.Ala140=) c.417C>T (p.Ala139=) | |
| X | g.8597155G>C | CA515171911 | ANOS1 | c.420C>G (p.Ala140=) c.417C>G (p.Ala139=) | |
| X | g.8597155G>T | CA515171910 | ANOS1 | c.420C>A (p.Ala140=) c.417C>A (p.Ala139=) | |
| X | g.8597156G>A | CA412025195 | ANOS1 | c.419C>T (p.Ala140Val) c.416C>T (p.Ala139Val) | |
| X | g.8597156G>C | CA412025196 | ANOS1 | c.419C>G (p.Ala140Gly) c.416C>G (p.Ala139Gly) | |
| X | g.8597156G= | CA2414621884 | ANOS1 | c.419C= (p.Ala140=) c.416C= (p.Ala139=) | |
| X | g.8597156G>T | CA10343807 | ANOS1 | c.419C>A (p.Ala140Asp) c.416C>A (p.Ala139Asp) | dbSNP ExAC |
| X | g.8597157C>A | CA412025197 | ANOS1 | c.418G>T (p.Ala140Ser) c.415G>T (p.Ala139Ser) | |
| X | g.8597157C= | CA2414621885 | ANOS1 | c.418G= (p.Ala140=) c.415G= (p.Ala139=) | |
| X | g.8597157C>G | CA412025198 | ANOS1 | c.418G>C (p.Ala140Pro) c.415G>C (p.Ala139Pro) | |
| X | g.8597157C>T | CA412025199 | ANOS1 | c.418G>A (p.Ala140Thr) c.415G>A (p.Ala139Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597158T>A | CA412025200 | ANOS1 | c.417A>T (p.Lys139Asn) c.414A>T (p.Lys138Asn) | |
| X | g.8597158T>C | CA10343808 | ANOS1 | c.417A>G (p.Lys139=) c.414A>G (p.Lys138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.8597158T>G | CA412025201 | ANOS1 | c.417A>C (p.Lys139Asn) c.414A>C (p.Lys138Asn) | |
| X | g.8597158T= | CA2414621886 | ANOS1 | c.417A= (p.Lys139=) c.414A= (p.Lys138=) | |
| X | g.8597159T>A | CA412025202 | ANOS1 | c.416A>T (p.Lys139Ile) c.413A>T (p.Lys138Ile) | |
| X | g.8597159T>C | CA412025203 | ANOS1 | c.416A>G (p.Lys139Arg) c.413A>G (p.Lys138Arg) | |
| X | g.8597159T>G | CA412025204 | ANOS1 | c.416A>C (p.Lys139Thr) c.413A>C (p.Lys138Thr) | |
| X | g.8597160T>A | CA412025207 | ANOS1 | c.415A>T (p.Lys139Ter) c.412A>T (p.Lys138Ter) | |
| X | g.8597160T>C | CA412025205 | ANOS1 | c.415A>G (p.Lys139Glu) c.412A>G (p.Lys138Glu) | |
| X | g.8597160T>G | CA412025206 | ANOS1 | c.415A>C (p.Lys139Gln) c.412A>C (p.Lys138Gln) | |
| X | g.8597161C>A | CA412025208 | ANOS1 | c.414G>T (p.Glu138Asp) c.411G>T (p.Glu137Asp) | |
| X | g.8597161C>G | CA412025209 | ANOS1 | c.414G>C (p.Glu138Asp) c.411G>C (p.Glu137Asp) | gnomAD v4 |
| X | g.8597161C>T | CA515171913 | ANOS1 | c.414G>A (p.Glu138=) c.411G>A (p.Glu137=) | gnomAD v4 |
| X | g.8597162T>A | CA412025210 | ANOS1 | c.413A>T (p.Glu138Val) c.410A>T (p.Glu137Val) | gnomAD v4 |
| X | g.8597162T>C | CA412025211 | ANOS1 | c.413A>G (p.Glu138Gly) c.410A>G (p.Glu137Gly) | |
| X | g.8597162T>G | CA412025212 | ANOS1 | c.413A>C (p.Glu138Ala) c.410A>C (p.Glu137Ala) | |
| X | g.8597163C>A | CA412025213 | ANOS1 | c.412G>T (p.Glu138Ter) c.409G>T (p.Glu137Ter) | |
| X | g.8597163C>G | CA412025214 | ANOS1 | c.412G>C (p.Glu138Gln) c.409G>C (p.Glu137Gln) | |
| X | g.8597163C>T | CA412025215 | ANOS1 | c.412G>A (p.Glu138Lys) c.409G>A (p.Glu137Lys) | gnomAD v4 |
| X | g.8597164A>C | CA515171914 | ANOS1 | c.411T>G (p.Pro137=) c.408T>G (p.Pro136=) | |
| X | g.8597164A>G | CA515171915 | ANOS1 | c.411T>C (p.Pro137=) c.408T>C (p.Pro136=) | |
| X | g.8597164A>T | CA515171916 | ANOS1 | c.411T>A (p.Pro137=) c.408T>A (p.Pro136=) | |
| X | g.8597165G>A | CA412025216 | ANOS1 | c.410C>T (p.Pro137Leu) c.407C>T (p.Pro136Leu) | |
| X | g.8597165G>C | CA412025217 | ANOS1 | c.410C>G (p.Pro137Arg) c.407C>G (p.Pro136Arg) | |
| X | g.8597165G>T | CA412025218 | ANOS1 | c.410C>A (p.Pro137His) c.407C>A (p.Pro136His) | |
| X | g.8597166G>A | CA412025220 | ANOS1 | c.409C>T (p.Pro137Ser) c.406C>T (p.Pro136Ser) | |
| X | g.8597166G>C | CA326488781 | ANOS1 | c.409C>G (p.Pro137Ala) c.406C>G (p.Pro136Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597166G= | CA2414621887 | ANOS1 | c.409C= (p.Pro137=) c.406C= (p.Pro136=) | |
| X | g.8597166G>T | CA412025219 | ANOS1 | c.409C>A (p.Pro137Thr) c.406C>A (p.Pro136Thr) | |
| X | g.8597167A>C | CA515171917 | ANOS1 | c.408T>G (p.Ala136=) c.405T>G (p.Ala135=) | |
| X | g.8597167A>G | CA515171918 | ANOS1 | c.408T>C (p.Ala136=) c.405T>C (p.Ala135=) | |
| X | g.8597167A>T | CA515171919 | ANOS1 | c.408T>A (p.Ala136=) c.405T>A (p.Ala135=) | gnomAD v3 gnomAD v4 |
| X | g.8597168G>A | CA412025223 | ANOS1 | c.407C>T (p.Ala136Val) c.404C>T (p.Ala135Val) | |
| X | g.8597168G>C | CA412025221 | ANOS1 | c.407C>G (p.Ala136Gly) c.404C>G (p.Ala135Gly) | |
| X | g.8597168G>T | CA412025222 | ANOS1 | c.407C>A (p.Ala136Asp) c.404C>A (p.Ala135Asp) | |
| X | g.8597169C>A | CA412025224 | ANOS1 | c.406G>T (p.Ala136Ser) c.403G>T (p.Ala135Ser) | |
| X | g.8597169C= | CA2414621888 | ANOS1 | c.406G= (p.Ala136=) c.403G= (p.Ala135=) | |
| X | g.8597169C>G | CA412025225 | ANOS1 | c.406G>C (p.Ala136Pro) c.403G>C (p.Ala135Pro) | dbSNP |
| X | g.8597169C>T | CA412025226 | ANOS1 | c.406G>A (p.Ala136Thr) c.403G>A (p.Ala135Thr) | |
| X | g.8597170C>A | CA515171921 | ANOS1 | c.405G>T (p.Pro135=) c.402G>T (p.Pro134=) | dbSNP gnomAD v4 |
| X | g.8597170C= | CA2414621889 | ANOS1 | c.405G= (p.Pro135=) c.402G= (p.Pro134=) | |
| X | g.8597170C>G | CA515171920 | ANOS1 | c.405G>C (p.Pro135=) c.402G>C (p.Pro134=) | gnomAD v4 |
| X | g.8597170C>T | CA10343809 | ANOS1 | c.405G>A (p.Pro135=) c.402G>A (p.Pro134=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597171G>A | CA16044143 | ANOS1 | c.404C>T (p.Pro135Leu) c.401C>T (p.Pro134Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.8597171G>C | CA412025227 | ANOS1 | c.404C>G (p.Pro135Arg) c.401C>G (p.Pro134Arg) | |
| X | g.8597171G= | CA2414621890 | ANOS1 | c.404C= (p.Pro135=) c.401C= (p.Pro134=) | |
| X | g.8597171G>T | CA412025228 | ANOS1 | c.404C>A (p.Pro135Gln) c.401C>A (p.Pro134Gln) | |
| X | g.8597172G>A | CA412025229 | ANOS1 | c.403C>T (p.Pro135Ser) c.400C>T (p.Pro134Ser) | |
| X | g.8597172G>C | CA412025230 | ANOS1 | c.403C>G (p.Pro135Ala) c.400C>G (p.Pro134Ala) | |
| X | g.8597172G>T | CA412025231 | ANOS1 | c.403C>A (p.Pro135Thr) c.400C>A (p.Pro134Thr) | |
| X | g.8597173A>C | CA412025232 | ANOS1 | c.402T>G (p.Cys134Trp) c.399T>G (p.Cys133Trp) | |
| X | g.8597173A>G | CA515171922 | ANOS1 | c.402T>C (p.Cys134=) c.399T>C (p.Cys133=) | |
| X | g.8597173A>T | CA412025233 | ANOS1 | c.402T>A (p.Cys134Ter) c.399T>A (p.Cys133Ter) | |
| X | g.8597174C>A | CA412025234 | ANOS1 | c.401G>T (p.Cys134Phe) c.398G>T (p.Cys133Phe) | |
| X | g.8597174C>G | CA412025236 | ANOS1 | c.401G>C (p.Cys134Ser) c.398G>C (p.Cys133Ser) | |
| X | g.8597174C>T | CA412025235 | ANOS1 | c.401G>A (p.Cys134Tyr) c.398G>A (p.Cys133Tyr) | |
| X | g.8597175A>C | CA412025237 | ANOS1 | c.400T>G (p.Cys134Gly) c.397T>G (p.Cys133Gly) | ClinVar dbSNP |
| X | g.8597175A>G | CA412025238 | ANOS1 | c.400T>C (p.Cys134Arg) c.397T>C (p.Cys133Arg) | |
| X | g.8597175A>T | CA412025239 | ANOS1 | c.400T>A (p.Cys134Ser) c.397T>A (p.Cys133Ser) | |
| X | g.8597176G>A | CA515171923 | ANOS1 | c.399C>T (p.Asp133=) c.396C>T (p.Asp132=) | |
| X | g.8597176G>C | CA412025240 | ANOS1 | c.399C>G (p.Asp133Glu) c.396C>G (p.Asp132Glu) | dbSNP |
| X | g.8597176G= | CA2414621891 | ANOS1 | c.399C= (p.Asp133=) c.396C= (p.Asp132=) | |
| X | g.8597176G>T | CA412025241 | ANOS1 | c.399C>A (p.Asp133Glu) c.396C>A (p.Asp132Glu) | |
| X | g.8597177T>A | CA412025242 | ANOS1 | c.398A>T (p.Asp133Val) c.395A>T (p.Asp132Val) | gnomAD v4 |
| X | g.8597177T>C | CA412025243 | ANOS1 | c.398A>G (p.Asp133Gly) c.395A>G (p.Asp132Gly) | |
| X | g.8597177T>G | CA412025244 | ANOS1 | c.398A>C (p.Asp133Ala) c.395A>C (p.Asp132Ala) | |
| X | g.8597177T= | CA2414621892 | ANOS1 | c.398A= (p.Asp133=) c.395A= (p.Asp132=) | |
| X | g.8597178C>A | CA412025245 | ANOS1 | c.397G>T (p.Asp133Tyr) c.394G>T (p.Asp132Tyr) | |
| X | g.8597178C= | CA2414621893 | ANOS1 | c.397G= (p.Asp133=) c.394G= (p.Asp132=) | |
| X | g.8597178C>G | CA412025246 | ANOS1 | c.397G>C (p.Asp133His) c.394G>C (p.Asp132His) | gnomAD v4 |
| X | g.8597178C>T | CA10343810 | ANOS1 | c.397G>A (p.Asp133Asn) c.394G>A (p.Asp132Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597182dup | CA658825010 | ANOS1 | c.397dup (p.Asp133GlyfsTer6) c.394dup (p.Asp132GlyfsTer6) | ClinVar dbSNP |
| X | g.8597179C>A | CA515171924 | ANOS1 | c.396G>T (p.Gly132=) c.393G>T (p.Gly131=) | |
| X | g.8597179C>G | CA515171925 | ANOS1 | c.396G>C (p.Gly132=) c.393G>C (p.Gly131=) | |
| X | g.8597179C>T | CA515171926 | ANOS1 | c.396G>A (p.Gly132=) c.393G>A (p.Gly131=) | |
| X | g.8597180C>A | CA412025249 | ANOS1 | c.395G>T (p.Gly132Val) c.392G>T (p.Gly131Val) | |
| X | g.8597180C>G | CA412025248 | ANOS1 | c.395G>C (p.Gly132Ala) c.392G>C (p.Gly131Ala) | |
| X | g.8597180C>T | CA412025247 | ANOS1 | c.395G>A (p.Gly132Glu) c.392G>A (p.Gly131Glu) | |
| X | g.8597181C>A | CA412025250 | ANOS1 | c.394G>T (p.Gly132Trp) c.391G>T (p.Gly131Trp) | |
| X | g.8597181C>G | CA412025252 | ANOS1 | c.394G>C (p.Gly132Arg) c.391G>C (p.Gly131Arg) | |
| X | g.8597181C>T | CA412025251 | ANOS1 | c.394G>A (p.Gly132Arg) c.391G>A (p.Gly131Arg) | |
| X | g.8597182C>A | CA412025253 | ANOS1 | c.393G>T (p.Gln131His) c.390G>T (p.Gln130His) | |
| X | g.8597182C= | CA2414621894 | ANOS1 | c.393G= (p.Gln131=) c.390G= (p.Gln130=) | |
| X | g.8597182C>G | CA412025254 | ANOS1 | c.393G>C (p.Gln131His) c.390G>C (p.Gln130His) | |
| X | g.8597182C>T | CA326488782 | ANOS1 | c.393G>A (p.Gln131=) c.390G>A (p.Gln130=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597183T>A | CA412025255 | ANOS1 | c.392A>T (p.Gln131Leu) c.389A>T (p.Gln130Leu) | |
| X | g.8597183T>C | CA412025256 | ANOS1 | c.392A>G (p.Gln131Arg) c.389A>G (p.Gln130Arg) | |
| X | g.8597183T>G | CA412025257 | ANOS1 | c.392A>C (p.Gln131Pro) c.389A>C (p.Gln130Pro) | |
| X | g.8597184G>A | CA412025258 | ANOS1 | c.391C>T (p.Gln131Ter) c.388C>T (p.Gln130Ter) | |
| X | g.8597184G>C | CA412025259 | ANOS1 | c.391C>G (p.Gln131Glu) c.388C>G (p.Gln130Glu) | gnomAD v4 |
| X | g.8597184G>T | CA412025260 | ANOS1 | c.391C>A (p.Gln131Lys) c.388C>A (p.Gln130Lys) | |
| X | g.8597185C>A | CA412025261 | ANOS1 | c.390G>T (p.Lys130Asn) c.387G>T (p.Lys129Asn) | |
| X | g.8597185C= | CA2414621895 | ANOS1 | c.390G= (p.Lys130=) c.387G= (p.Lys129=) | |
| X | g.8597185C>G | CA412025262 | ANOS1 | c.390G>C (p.Lys130Asn) c.387G>C (p.Lys129Asn) | |
| X | g.8597185C>T | CA10343811 | ANOS1 | c.390G>A (p.Lys130=) c.387G>A (p.Lys129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597186T>A | CA412025265 | ANOS1 | c.389A>T (p.Lys130Met) c.386A>T (p.Lys129Met) | |
| X | g.8597186T>C | CA412025263 | ANOS1 | c.389A>G (p.Lys130Arg) c.386A>G (p.Lys129Arg) | COSMIC |
| X | g.8597186T>G | CA412025264 | ANOS1 | c.389A>C (p.Lys130Thr) c.386A>C (p.Lys129Thr) | |
| X | g.8597186_8597189dup | CA2819620158 | ANOS1 | c.386_389dup (p.Lys130AsnfsTer10) c.383_386dup (p.Lys129AsnfsTer10) | |
| X | g.8597187T>A | CA412025266 | ANOS1 | c.388A>T (p.Lys130Ter) c.385A>T (p.Lys129Ter) | |
| X | g.8597187T>C | CA412025267 | ANOS1 | c.388A>G (p.Lys130Glu) c.385A>G (p.Lys129Glu) | |
| X | g.8597187T>G | CA412025268 | ANOS1 | c.388A>C (p.Lys130Gln) c.385A>C (p.Lys129Gln) | |
| X | g.8597188C>A | CA515171927 | ANOS1 | c.387G>T (p.Val129=) c.384G>T (p.Val128=) | |
| X | g.8597188C>G | CA515171928 | ANOS1 | c.387G>C (p.Val129=) c.384G>C (p.Val128=) | |
| X | g.8597188C>T | CA515171929 | ANOS1 | c.387G>A (p.Val129=) c.384G>A (p.Val128=) | |
| X | g.8597189A= | CA2414621896 | ANOS1 | c.386T= (p.Val129=) c.383T= (p.Val128=) | |
| X | g.8597189A>C | CA412025269 | ANOS1 | c.386T>G (p.Val129Gly) c.383T>G (p.Val128Gly) | |
| X | g.8597189A>G | CA412025270 | ANOS1 | c.386T>C (p.Val129Ala) c.383T>C (p.Val128Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597189A>T | CA412025271 | ANOS1 | c.386T>A (p.Val129Glu) c.383T>A (p.Val128Glu) | |
| X | g.8597190C>A | CA326488783 | ANOS1 | c.385G>T (p.Val129Leu) c.382G>T (p.Val128Leu) | dbSNP |
| X | g.8597190C= | CA2414621897 | ANOS1 | c.385G= (p.Val129=) c.382G= (p.Val128=) | |
| X | g.8597190C>G | CA412025272 | ANOS1 | c.385G>C (p.Val129Leu) c.382G>C (p.Val128Leu) | |
| X | g.8597190C>T | CA412025273 | ANOS1 | c.385G>A (p.Val129Met) c.382G>A (p.Val128Met) | |
| X | g.8597191C>A | CA412025274 | ANOS1 | c.384G>T (p.Leu128Phe) c.381G>T (p.Leu127Phe) | |
| X | g.8597191C>G | CA412025275 | ANOS1 | c.384G>C (p.Leu128Phe) c.381G>C (p.Leu127Phe) | |
| X | g.8597191C>T | CA515171930 | ANOS1 | c.384G>A (p.Leu128=) c.381G>A (p.Leu127=) | gnomAD v4 |
| X | g.8597192A= | CA2414621898 | ANOS1 | c.383T= (p.Leu128=) c.380T= (p.Leu127=) | |
| X | g.8597192A>C | CA412025277 | ANOS1 | c.383T>G (p.Leu128Trp) c.380T>G (p.Leu127Trp) | |
| X | g.8597192A>G | CA10343812 | ANOS1 | c.383T>C (p.Leu128Ser) c.380T>C (p.Leu127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597192A>T | CA412025276 | ANOS1 | c.383T>A (p.Leu128Ter) c.380T>A (p.Leu127Ter) | |
| X | g.8597193A>C | CA412025279 | ANOS1 | c.382T>G (p.Leu128Val) c.379T>G (p.Leu127Val) | |
| X | g.8597193A>G | CA515171931 | ANOS1 | c.382T>C (p.Leu128=) c.379T>C (p.Leu127=) | |
| X | g.8597193A>T | CA412025278 | ANOS1 | c.382T>A (p.Leu128Met) c.379T>A (p.Leu127Met) | |
| X | g.8597194C>A | CA515171932 | ANOS1 | c.381G>T (p.Leu127=) c.378G>T (p.Leu126=) | |
| X | g.8597194C>G | CA515171933 | ANOS1 | c.381G>C (p.Leu127=) c.378G>C (p.Leu126=) | |
| X | g.8597194C>T | CA515171934 | ANOS1 | c.381G>A (p.Leu127=) c.378G>A (p.Leu126=) | gnomAD v4 |
| X | g.8597195A>C | CA412025280 | ANOS1 | c.380T>G (p.Leu127Arg) c.377T>G (p.Leu126Arg) | |
| X | g.8597195A>G | CA412025281 | ANOS1 | c.380T>C (p.Leu127Pro) c.377T>C (p.Leu126Pro) | |
| X | g.8597195A>T | CA412025282 | ANOS1 | c.380T>A (p.Leu127Gln) c.377T>A (p.Leu126Gln) | gnomAD v4 |
| X | g.8597196G>A | CA326488784 | ANOS1 | c.379C>T (p.Leu127=) c.376C>T (p.Leu126=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597196G>C | CA412025283 | ANOS1 | c.379C>G (p.Leu127Val) c.376C>G (p.Leu126Val) | |
| X | g.8597196G= | CA2414621899 | ANOS1 | c.379C= (p.Leu127=) c.376C= (p.Leu126=) | |
| X | g.8597196G>T | CA412025284 | ANOS1 | c.379C>A (p.Leu127Met) c.376C>A (p.Leu126Met) | COSMIC |
| X | g.8597197G>A | CA10343814 | ANOS1 | c.378C>T (p.Ile126=) c.375C>T (p.Ile125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597197G>C | CA412025285 | ANOS1 | c.378C>G (p.Ile126Met) c.375C>G (p.Ile125Met) | dbSNP gnomAD v4 |
| X | g.8597197G= | CA2414621900 | ANOS1 | c.378C= (p.Ile126=) c.375C= (p.Ile125=) | |
| X | g.8597197G>T | CA10343813 | ANOS1 | c.378C>A (p.Ile126=) c.375C>A (p.Ile125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597198A>C | CA412025286 | ANOS1 | c.377T>G (p.Ile126Ser) c.374T>G (p.Ile125Ser) | |
| X | g.8597198A>G | CA412025287 | ANOS1 | c.377T>C (p.Ile126Thr) c.374T>C (p.Ile125Thr) | |
| X | g.8597198A>T | CA412025288 | ANOS1 | c.377T>A (p.Ile126Asn) c.374T>A (p.Ile125Asn) | |
| X | g.8597199T>A | CA412025290 | ANOS1 | c.376A>T (p.Ile126Phe) c.373A>T (p.Ile125Phe) | |
| X | g.8597199T>C | CA412025289 | ANOS1 | c.376A>G (p.Ile126Val) c.373A>G (p.Ile125Val) | |
| X | g.8597199T>G | CA326488785 | ANOS1 | c.376A>C (p.Ile126Leu) c.373A>C (p.Ile125Leu) | dbSNP gnomAD v4 |
| X | g.8597199T= | CA2414621901 | ANOS1 | c.376A= (p.Ile126=) c.373A= (p.Ile125=) | |
| X | g.8597200G>A | CA515171935 | ANOS1 | c.375C>T (p.Tyr125=) c.372C>T (p.Tyr124=) | |
| X | g.8597200G>C | CA412025291 | ANOS1 | c.375C>G (p.Tyr125Ter) c.372C>G (p.Tyr124Ter) | |
| X | g.8597200G>T | CA412025292 | ANOS1 | c.375C>A (p.Tyr125Ter) c.372C>A (p.Tyr124Ter) | |
| X | g.8597201T>A | CA412025293 | ANOS1 | c.374A>T (p.Tyr125Phe) c.371A>T (p.Tyr124Phe) | |
| X | g.8597201T>C | CA412025294 | ANOS1 | c.374A>G (p.Tyr125Cys) c.371A>G (p.Tyr124Cys) | gnomAD v4 |
| X | g.8597201T>G | CA412025295 | ANOS1 | c.374A>C (p.Tyr125Ser) c.371A>C (p.Tyr124Ser) | |
| X | g.8597202A= | CA2414621902 | ANOS1 | c.373T= (p.Tyr125=) c.370T= (p.Tyr124=) | |
| X | g.8597202A>C | CA412025296 | ANOS1 | c.373T>G (p.Tyr125Asp) c.370T>G (p.Tyr124Asp) | |
| X | g.8597202A>G | CA326488786 | ANOS1 | c.373T>C (p.Tyr125His) c.370T>C (p.Tyr124His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597202A>T | CA412025297 | ANOS1 | c.373T>A (p.Tyr125Asn) c.370T>A (p.Tyr124Asn) | |
| X | g.8597203T>A | CA326488787 | ANOS1 | c.372A>T (p.Lys124Asn) c.369A>T (p.Lys123Asn) | dbSNP |
| X | g.8597203T>C | CA515171936 | ANOS1 | c.372A>G (p.Lys124=) c.369A>G (p.Lys123=) | |
| X | g.8597203T>G | CA412025298 | ANOS1 | c.372A>C (p.Lys124Asn) c.369A>C (p.Lys123Asn) | |
| X | g.8597203T= | CA2414621903 | ANOS1 | c.372A= (p.Lys124=) c.369A= (p.Lys123=) | |
| X | g.8597204T>A | CA412025299 | ANOS1 | c.371A>T (p.Lys124Ile) c.368A>T (p.Lys123Ile) | |
| X | g.8597204T>C | CA412025300 | ANOS1 | c.371A>G (p.Lys124Arg) c.368A>G (p.Lys123Arg) | gnomAD v4 |
| X | g.8597204T>G | CA412025301 | ANOS1 | c.371A>C (p.Lys124Thr) c.368A>C (p.Lys123Thr) | |
| X | g.8597205T>A | CA412025303 | ANOS1 | c.370A>T (p.Lys124Ter) c.367A>T (p.Lys123Ter) | |
| X | g.8597205T>C | CA412025304 | ANOS1 | c.370A>G (p.Lys124Glu) c.367A>G (p.Lys123Glu) | gnomAD v4 |
| X | g.8597205T>G | CA412025302 | ANOS1 | c.370A>C (p.Lys124Gln) c.367A>C (p.Lys123Gln) | |
| X | g.8597206G>A | CA515171937 | ANOS1 | c.369C>T (p.Leu123=) c.366C>T (p.Leu122=) | |
| X | g.8597206G>C | CA515171938 | ANOS1 | c.369C>G (p.Leu123=) c.366C>G (p.Leu122=) | gnomAD v4 |
| X | g.8597206G= | CA2414621904 | ANOS1 | c.369C= (p.Leu123=) c.366C= (p.Leu122=) | |
| X | g.8597206G>T | CA515171939 | ANOS1 | c.369C>A (p.Leu123=) c.366C>A (p.Leu122=) | dbSNP gnomAD v2 |
| X | g.8597207A>C | CA412025305 | ANOS1 | c.368T>G (p.Leu123Arg) c.365T>G (p.Leu122Arg) | |
| X | g.8597207A>G | CA412025307 | ANOS1 | c.368T>C (p.Leu123Pro) c.365T>C (p.Leu122Pro) | |
| X | g.8597207A>T | CA412025306 | ANOS1 | c.368T>A (p.Leu123His) c.365T>A (p.Leu122His) | |
| X | g.8597208G>A | CA412025308 | ANOS1 | c.367C>T (p.Leu123Phe) c.364C>T (p.Leu122Phe) | |
| X | g.8597208G>C | CA412025310 | ANOS1 | c.367C>G (p.Leu123Val) c.364C>G (p.Leu122Val) | |
| X | g.8597208G>T | CA412025309 | ANOS1 | c.367C>A (p.Leu123Ile) c.364C>A (p.Leu122Ile) | |
| X | g.8597209G>A | CA515171940 | ANOS1 | c.366C>T (p.Phe122=) c.363C>T (p.Phe121=) | COSMIC |
| X | g.8597209G>C | CA412025311 | ANOS1 | c.366C>G (p.Phe122Leu) c.363C>G (p.Phe121Leu) | dbSNP |
| X | g.8597209G= | CA2414621905 | ANOS1 | c.366C= (p.Phe122=) c.363C= (p.Phe121=) | |
| X | g.8597209G>T | CA412025312 | ANOS1 | c.366C>A (p.Phe122Leu) c.363C>A (p.Phe121Leu) | |
| X | g.8597210A= | CA2414621906 | ANOS1 | c.365T= (p.Phe122=) c.362T= (p.Phe121=) | |
| X | g.8597210A>C | CA412025313 | ANOS1 | c.365T>G (p.Phe122Cys) c.362T>G (p.Phe121Cys) | dbSNP |
| X | g.8597210A>G | CA412025314 | ANOS1 | c.365T>C (p.Phe122Ser) c.362T>C (p.Phe121Ser) | |
| X | g.8597210A>T | CA412025315 | ANOS1 | c.365T>A (p.Phe122Tyr) c.362T>A (p.Phe121Tyr) | |
| X | g.8597211A>C | CA412025316 | ANOS1 | c.364T>G (p.Phe122Val) c.361T>G (p.Phe121Val) | |
| X | g.8597211A>G | CA412025317 | ANOS1 | c.364T>C (p.Phe122Leu) c.361T>C (p.Phe121Leu) | |
| X | g.8597211A>T | CA412025318 | ANOS1 | c.364T>A (p.Phe122Ile) c.361T>A (p.Phe121Ile) | |
| X | g.8597212C>A | CA412025319 | ANOS1 | c.363G>T (p.Glu121Asp) c.360G>T (p.Glu120Asp) | |
| X | g.8597212C>G | CA412025320 | ANOS1 | c.363G>C (p.Glu121Asp) c.360G>C (p.Glu120Asp) | |
| X | g.8597212C>T | CA515171941 | ANOS1 | c.363G>A (p.Glu121=) c.360G>A (p.Glu120=) | |
| X | g.8597213T>A | CA412025323 | ANOS1 | c.362A>T (p.Glu121Val) c.359A>T (p.Glu120Val) | |
| X | g.8597213T>C | CA412025322 | ANOS1 | c.362A>G (p.Glu121Gly) c.359A>G (p.Glu120Gly) | |
| X | g.8597213T>G | CA412025321 | ANOS1 | c.362A>C (p.Glu121Ala) c.359A>C (p.Glu120Ala) | |
| X | g.8597214C>A | CA412025324 | ANOS1 | c.361G>T (p.Glu121Ter) c.358G>T (p.Glu120Ter) | |
| X | g.8597214C>G | CA412025325 | ANOS1 | c.361G>C (p.Glu121Gln) c.358G>C (p.Glu120Gln) | |
| X | g.8597214C>T | CA412025326 | ANOS1 | c.361G>A (p.Glu121Lys) c.358G>A (p.Glu120Lys) | |
| X | g.8597215A>C | CA412025327 | ANOS1 | c.360T>G (p.Cys120Trp) c.357T>G (p.Cys119Trp) | |
| X | g.8597215A>G | CA515171942 | ANOS1 | c.360T>C (p.Cys120=) c.357T>C (p.Cys119=) | |
| X | g.8597215A>T | CA412025328 | ANOS1 | c.360T>A (p.Cys120Ter) c.357T>A (p.Cys119Ter) | |
| X | g.8597216C>A | CA412025329 | ANOS1 | c.359G>T (p.Cys120Phe) c.356G>T (p.Cys119Phe) | |
| X | g.8597216C>G | CA412025330 | ANOS1 | c.359G>C (p.Cys120Ser) c.356G>C (p.Cys119Ser) | |
| X | g.8597216C>T | CA412025331 | ANOS1 | c.359G>A (p.Cys120Tyr) c.356G>A (p.Cys119Tyr) | |
| X | g.8597217A>C | CA412025332 | ANOS1 | c.358T>G (p.Cys120Gly) c.355T>G (p.Cys119Gly) | |
| X | g.8597217A>G | CA412025333 | ANOS1 | c.358T>C (p.Cys120Arg) c.355T>C (p.Cys119Arg) | |
| X | g.8597217A>T | CA412025334 | ANOS1 | c.358T>A (p.Cys120Ser) c.355T>A (p.Cys119Ser) | gnomAD v4 |
| X | g.8597218G>A | CA515171943 | ANOS1 | c.357C>T (p.Ser119=) c.354C>T (p.Ser118=) | gnomAD v4 |
| X | g.8597218G>C | CA412025336 | ANOS1 | c.357C>G (p.Ser119Arg) c.354C>G (p.Ser118Arg) | ClinVar dbSNP |
| X | g.8597218G= | CA2414621907 | ANOS1 | c.357C= (p.Ser119=) c.354C= (p.Ser118=) | |
| X | g.8597218G>T | CA412025335 | ANOS1 | c.357C>A (p.Ser119Arg) c.354C>A (p.Ser118Arg) | |
| X | g.8597219C>A | CA412025337 | ANOS1 | c.356G>T (p.Ser119Ile) c.353G>T (p.Ser118Ile) | |
| X | g.8597219C>G | CA412025338 | ANOS1 | c.356G>C (p.Ser119Thr) c.353G>C (p.Ser118Thr) | |
| X | g.8597219C>T | CA412025339 | ANOS1 | c.356G>A (p.Ser119Asn) c.353G>A (p.Ser118Asn) | gnomAD v3 gnomAD v4 |
| X | g.8597220T>A | CA412025340 | ANOS1 | c.355A>T (p.Ser119Cys) c.352A>T (p.Ser118Cys) | |
| X | g.8597220T>C | CA412025341 | ANOS1 | c.355A>G (p.Ser119Gly) c.352A>G (p.Ser118Gly) | |
| X | g.8597220T>G | CA412025342 | ANOS1 | c.355A>C (p.Ser119Arg) c.352A>C (p.Ser118Arg) | |
| X | g.8597221G>A | CA515171944 | ANOS1 | c.354C>T (p.Thr118=) c.351C>T (p.Thr117=) | gnomAD v4 |
| X | g.8597221G>C | CA515171945 | ANOS1 | c.354C>G (p.Thr118=) c.351C>G (p.Thr117=) | |
| X | g.8597221G>T | CA515171946 | ANOS1 | c.354C>A (p.Thr118=) c.351C>A (p.Thr117=) | |
| X | g.8597222G>A | CA412025345 | ANOS1 | c.353C>T (p.Thr118Ile) c.350C>T (p.Thr117Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.8597222G>C | CA412025343 | ANOS1 | c.353C>G (p.Thr118Ser) c.350C>G (p.Thr117Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8597222G= | CA2414621908 | ANOS1 | c.353C= (p.Thr118=) c.350C= (p.Thr117=) | |
| X | g.8597222G>T | CA412025344 | ANOS1 | c.353C>A (p.Thr118Asn) c.350C>A (p.Thr117Asn) | |
| X | g.8597223T>A | CA412025346 | ANOS1 | c.352A>T (p.Thr118Ser) c.349A>T (p.Thr117Ser) | |
| X | g.8597223T>C | CA326488788 | ANOS1 | c.352A>G (p.Thr118Ala) c.349A>G (p.Thr117Ala) | dbSNP |
| X | g.8597223T>G | CA412025347 | ANOS1 | c.352A>C (p.Thr118Pro) c.349A>C (p.Thr117Pro) | |
| X | g.8597223T= | CA2414621909 | ANOS1 | c.352A= (p.Thr118=) c.349A= (p.Thr117=) | |
| X | g.8597223_8597224insTT | CA2693053985 | ANOS1 | c.352_353insAA (p.Thr118LysfsTer13) c.349_350insAA (p.Thr117LysfsTer13) | gnomAD v4 |
| X | g.8597224C>A | CA412025348 | ANOS1 | c.351G>T (p.Leu117Phe) c.348G>T (p.Leu116Phe) | |
| X | g.8597224C= | CA2414621910 | ANOS1 | c.351G= (p.Leu117=) c.348G= (p.Leu116=) | |
| X | g.8597224C>G | CA412025349 | ANOS1 | c.351G>C (p.Leu117Phe) c.348G>C (p.Leu116Phe) | |
| X | g.8597224C>T | CA515171947 | ANOS1 | c.351G>A (p.Leu117=) c.348G>A (p.Leu116=) | dbSNP gnomAD v4 |
| X | g.8597225A= | CA2414621911 | ANOS1 | c.350T= (p.Leu117=) c.347T= (p.Leu116=) | |
| X | g.8597225A>C | CA412025350 | ANOS1 | c.350T>G (p.Leu117Trp) c.347T>G (p.Leu116Trp) | |
| X | g.8597225A>G | CA412025352 | ANOS1 | c.350T>C (p.Leu117Ser) c.347T>C (p.Leu116Ser) | |
| X | g.8597225A>T | CA412025351 | ANOS1 | c.350T>A (p.Leu117Ter) c.347T>A (p.Leu116Ter) | dbSNP |
| X | g.8597226A= | CA2414621912 | ANOS1 | c.349T= (p.Leu117=) c.346T= (p.Leu116=) | |
| X | g.8597226A>C | CA412025353 | ANOS1 | c.349T>G (p.Leu117Val) c.346T>G (p.Leu116Val) | |
| X | g.8597226A>G | CA515171948 | ANOS1 | c.349T>C (p.Leu117=) c.346T>C (p.Leu116=) | |
| X | g.8597226A>T | CA412025354 | ANOS1 | c.349T>A (p.Leu117Met) c.346T>A (p.Leu116Met) | dbSNP |
| X | g.8597226_8597227del | CA2693053986 | ANOS1 | c.348_349del (p.Leu117AspfsTer4) c.345_346del (p.Leu116AspfsTer4) | gnomAD v4 |
| X | g.8597227G>A | CA326488789 | ANOS1 | c.348C>T (p.Cys116=) c.345C>T (p.Cys115=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8597227G>C | CA412025355 | ANOS1 | c.348C>G (p.Cys116Trp) c.345C>G (p.Cys115Trp) | |
| X | g.8597227G= | CA2414621913 | ANOS1 | c.348C= (p.Cys116=) c.345C= (p.Cys115=) | |
| X | g.8597227G>T | CA412025356 | ANOS1 | c.348C>A (p.Cys116Ter) c.345C>A (p.Cys115Ter) | |
| X | g.8597228C>A | CA412025357 | ANOS1 | c.347G>T (p.Cys116Phe) c.344G>T (p.Cys115Phe) | |
| X | g.8597228C>G | CA412025358 | ANOS1 | c.347G>C (p.Cys116Ser) c.344G>C (p.Cys115Ser) | |
| X | g.8597228C>T | CA412025359 | ANOS1 | c.347G>A (p.Cys116Tyr) c.344G>A (p.Cys115Tyr) | |
| X | g.8597229A>C | CA412025360 | ANOS1 | c.346T>G (p.Cys116Gly) c.343T>G (p.Cys115Gly) | |
| X | g.8597229A>G | CA412025361 | ANOS1 | c.346T>C (p.Cys116Arg) c.343T>C (p.Cys115Arg) | |
| X | g.8597229A>T | CA412025362 | ANOS1 | c.346T>A (p.Cys116Ser) c.343T>A (p.Cys115Ser) | |
| X | g.8597230T>A | CA412025363 | ANOS1 | c.345A>T (p.Glu115Asp) c.342A>T (p.Glu114Asp) | |
| X | g.8597230T>C | CA515171949 | ANOS1 | c.345A>G (p.Glu115=) c.342A>G (p.Glu114=) | |
| X | g.8597230T>G | CA412025364 | ANOS1 | c.345A>C (p.Glu115Asp) c.342A>C (p.Glu114Asp) | |
| X | g.8597231T>A | CA412025365 | ANOS1 | c.344A>T (p.Glu115Val) c.341A>T (p.Glu114Val) | |
| X | g.8597231T>C | CA412025367 | ANOS1 | c.344A>G (p.Glu115Gly) c.341A>G (p.Glu114Gly) | |
| X | g.8597231T>G | CA412025366 | ANOS1 | c.344A>C (p.Glu115Ala) c.341A>C (p.Glu114Ala) | |
| X | g.8597232C>A | CA412025368 | ANOS1 | c.343G>T (p.Glu115Ter) c.340G>T (p.Glu114Ter) | COSMIC |
| X | g.8597232C= | CA2414621914 | ANOS1 | c.343G= (p.Glu115=) c.340G= (p.Glu114=) | |
| X | g.8597232C>G | CA412025369 | ANOS1 | c.343G>C (p.Glu115Gln) c.340G>C (p.Glu114Gln) | |
| X | g.8597232C>T | CA412025370 | ANOS1 | c.343G>A (p.Glu115Lys) c.340G>A (p.Glu114Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.8597233G>A | CA515171950 | ANOS1 | c.342C>T (p.Tyr114=) c.339C>T (p.Tyr113=) | |
| X | g.8597233G>C | CA412025371 | ANOS1 | c.342C>G (p.Tyr114Ter) c.339C>G (p.Tyr113Ter) | |
| X | g.8597233G>T | CA412025372 | ANOS1 | c.342C>A (p.Tyr114Ter) c.339C>A (p.Tyr113Ter) | |
| X | g.8597234T>A | CA412025373 | ANOS1 | c.341A>T (p.Tyr114Phe) c.338A>T (p.Tyr113Phe) | |
| X | g.8597234T>C | CA412025374 | ANOS1 | c.341A>G (p.Tyr114Cys) c.338A>G (p.Tyr113Cys) | |
| X | g.8597234T>G | CA412025375 | ANOS1 | c.341A>C (p.Tyr114Ser) c.338A>C (p.Tyr113Ser) | |
| X | g.8597235A>C | CA412025376 | ANOS1 | c.340T>G (p.Tyr114Asp) c.337T>G (p.Tyr113Asp) | |
| X | g.8597235A>G | CA412025377 | ANOS1 | c.340T>C (p.Tyr114His) c.337T>C (p.Tyr113His) | |
| X | g.8597235A>T | CA412025378 | ANOS1 | c.340T>A (p.Tyr114Asn) c.337T>A (p.Tyr113Asn) | |
| X | g.8597236G>A | CA515171951 | ANOS1 | c.339C>T (p.Ser113=) c.336C>T (p.Ser112=) | |
| X | g.8597236G>C | CA412025380 | ANOS1 | c.339C>G (p.Ser113Arg) c.336C>G (p.Ser112Arg) | |
| X | g.8597236G>T | CA412025379 | ANOS1 | c.339C>A (p.Ser113Arg) c.336C>A (p.Ser112Arg) | |
| X | g.8597237C>A | CA412025381 | ANOS1 | c.338G>T (p.Ser113Ile) c.335G>T (p.Ser112Ile) | |
| X | g.8597237C>G | CA412025382 | ANOS1 | c.338G>C (p.Ser113Thr) c.335G>C (p.Ser112Thr) | |
| X | g.8597237C>T | CA412025383 | ANOS1 | c.338G>A (p.Ser113Asn) c.335G>A (p.Ser112Asn) | |
| X | g.8597238T>A | CA412025384 | ANOS1 | c.337A>T (p.Ser113Cys) c.334A>T (p.Ser112Cys) | |
| X | g.8597238T>C | CA412025385 | ANOS1 | c.337A>G (p.Ser113Gly) c.334A>G (p.Ser112Gly) | |
| X | g.8597238T>G | CA412025386 | ANOS1 | c.337A>C (p.Ser113Arg) c.334A>C (p.Ser112Arg) | ClinVar dbSNP |
| X | g.8597238T= | CA2414621915 | ANOS1 | c.337A= (p.Ser113=) c.334A= (p.Ser112=) | |
| X | g.8597239C>A | CA412025387 | ANOS1 | c.336G>T (p.Lys112Asn) c.333G>T (p.Lys111Asn) | |
| X | g.8597239C>G | CA412025388 | ANOS1 | c.336G>C (p.Lys112Asn) c.333G>C (p.Lys111Asn) | |
| X | g.8597239C>T | CA515171952 | ANOS1 | c.336G>A (p.Lys112=) c.333G>A (p.Lys111=) | |
| X | g.8597240T>A | CA412025389 | ANOS1 | c.335A>T (p.Lys112Met) c.332A>T (p.Lys111Met) | |
| X | g.8597240T>C | CA412025390 | ANOS1 | c.335A>G (p.Lys112Arg) c.332A>G (p.Lys111Arg) | |
| X | g.8597240T>G | CA412025391 | ANOS1 | c.335A>C (p.Lys112Thr) c.332A>C (p.Lys111Thr) | |
| X | g.8597241T>A | CA412025393 | ANOS1 | c.334A>T (p.Lys112Ter) c.331A>T (p.Lys111Ter) | |
| X | g.8597241T>C | CA412025394 | ANOS1 | c.334A>G (p.Lys112Glu) c.331A>G (p.Lys111Glu) | |
| X | g.8597241T>G | CA412025392 | ANOS1 | c.334A>C (p.Lys112Gln) c.331A>C (p.Lys111Gln) | |
| X | g.8597242C>A | CA412025395 | ANOS1 | c.333G>T (p.Lys111Asn) c.330G>T (p.Lys110Asn) | |
| X | g.8597242C>G | CA412025396 | ANOS1 | c.333G>C (p.Lys111Asn) c.330G>C (p.Lys110Asn) | |
| X | g.8597242C>T | CA515171953 | ANOS1 | c.333G>A (p.Lys111=) c.330G>A (p.Lys110=) | gnomAD v4 |
| X | g.8597243T>A | CA412025397 | ANOS1 | c.332A>T (p.Lys111Met) c.329A>T (p.Lys110Met) | |
| X | g.8597243T>C | CA412025398 | ANOS1 | c.332A>G (p.Lys111Arg) c.329A>G (p.Lys110Arg) | |
| X | g.8597243T>G | CA412025399 | ANOS1 | c.332A>C (p.Lys111Thr) c.329A>C (p.Lys110Thr) | |
| X | g.8597244T>A | CA412025400 | ANOS1 | c.331A>T (p.Lys111Ter) c.328A>T (p.Lys110Ter) | |
| X | g.8597244T>C | CA412025401 | ANOS1 | c.331A>G (p.Lys111Glu) c.328A>G (p.Lys110Glu) | |
| X | g.8597244T>G | CA412025402 | ANOS1 | c.331A>C (p.Lys111Gln) c.328A>C (p.Lys110Gln) | |
| X | g.8597245G>A | CA515171955 | ANOS1 | c.330C>T (p.Pro110=) c.327C>T (p.Pro109=) | |
| X | g.8597245G>C | CA515171956 | ANOS1 | c.330C>G (p.Pro110=) c.327C>G (p.Pro109=) | |
| X | g.8597245G>T | CA515171957 | ANOS1 | c.330C>A (p.Pro110=) c.327C>A (p.Pro109=) | |
| X | g.8597246G>A | CA412025403 | ANOS1 | c.329C>T (p.Pro110Leu) c.326C>T (p.Pro109Leu) | COSMIC |
| X | g.8597246G>C | CA412025404 | ANOS1 | c.329C>G (p.Pro110Arg) c.326C>G (p.Pro109Arg) | dbSNP gnomAD v2 |
| X | g.8597246G= | CA2414621916 | ANOS1 | c.329C= (p.Pro110=) c.326C= (p.Pro109=) | |
| X | g.8597246G>T | CA412025405 | ANOS1 | c.329C>A (p.Pro110His) c.326C>A (p.Pro109His) | COSMIC |
| X | g.8597247G>A | CA412025406 | ANOS1 | c.328C>T (p.Pro110Ser) c.325C>T (p.Pro109Ser) | |
| X | g.8597247G>C | CA412025407 | ANOS1 | c.328C>G (p.Pro110Ala) c.325C>G (p.Pro109Ala) | |
| X | g.8597247G>T | CA412025408 | ANOS1 | c.328C>A (p.Pro110Thr) c.325C>A (p.Pro109Thr) | |
| X | g.8597248G>A | CA515171958 | ANOS1 | c.327C>T (p.Phe109=) c.324C>T (p.Phe108=) | |
| X | g.8597248G>C | CA412025409 | ANOS1 | c.327C>G (p.Phe109Leu) c.324C>G (p.Phe108Leu) | |
| X | g.8597248G>T | CA412025410 | ANOS1 | c.327C>A (p.Phe109Leu) c.324C>A (p.Phe108Leu) | |
| X | g.8597249A>C | CA412025411 | ANOS1 | c.326T>G (p.Phe109Cys) c.323T>G (p.Phe108Cys) | |
| X | g.8597249A>G | CA412025412 | ANOS1 | c.326T>C (p.Phe109Ser) c.323T>C (p.Phe108Ser) | |
| X | g.8597249A>T | CA412025414 | ANOS1 | c.326T>A (p.Phe109Tyr) c.323T>A (p.Phe108Tyr) | |
| X | g.8597250A>C | CA412025415 | ANOS1 | c.325T>G (p.Phe109Val) c.322T>G (p.Phe108Val) | gnomAD v4 |
| X | g.8597250A>G | CA412025416 | ANOS1 | c.325T>C (p.Phe109Leu) c.322T>C (p.Phe108Leu) | |
| X | g.8597250A>T | CA412025417 | ANOS1 | c.325T>A (p.Phe109Ile) c.322T>A (p.Phe108Ile) | |
| X | g.8597251G>A | CA515171959 | ANOS1 | c.324C>T (p.Leu108=) c.321C>T (p.Leu107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8597251G>C | CA515171960 | ANOS1 | c.324C>G (p.Leu108=) c.321C>G (p.Leu107=) | |
| X | g.8597251G= | CA2414621917 | ANOS1 | c.324C= (p.Leu108=) c.321C= (p.Leu107=) | |
| X | g.8597251G>T | CA515171961 | ANOS1 | c.324C>A (p.Leu108=) c.321C>A (p.Leu107=) | |
| X | g.8597252A>C | CA412025418 | ANOS1 | c.323T>G (p.Leu108Arg) c.320T>G (p.Leu107Arg) | |
| X | g.8597252A>G | CA412025419 | ANOS1 | c.323T>C (p.Leu108Pro) c.320T>C (p.Leu107Pro) | |
| X | g.8597252A>T | CA412025420 | ANOS1 | c.323T>A (p.Leu108His) c.320T>A (p.Leu107His) | |
| X | g.8597253del | CA2695231081 | ANOS1 | c.322del (p.Leu108SerfsTer10) c.319del (p.Leu107SerfsTer10) | |
| X | g.8597253G>A | CA412025421 | ANOS1 | c.322C>T (p.Leu108Phe) c.319C>T (p.Leu107Phe) | |
| X | g.8597253G>C | CA412025422 | ANOS1 | c.322C>G (p.Leu108Val) c.319C>G (p.Leu107Val) | |
| X | g.8597253G>T | CA412025423 | ANOS1 | c.322C>A (p.Leu108Ile) c.319C>A (p.Leu107Ile) |