| 20 | g.44160272_44160294delinsTTGCTGTGCTCGCTGCGCAGGGA | CA2365647824 | JPH2 | c.493_515delinsTCCCTGCGCAGCGAGCACAGCAA (p.Ser165=)
| |
| 20 | g.44160273_44160294delinsG | CA658799364 | JPH2 | c.493_514delinsC (p.Ser165_Asn172delinsHis)
| ClinVar dbSNP |
| 20 | g.44160279G>A | CA409094248 | JPH2 | c.508C>T (p.His170Tyr)
| gnomAD v4 |
| 20 | g.44160279G>C | CA409094247 | JPH2 | c.508C>G (p.His170Asp)
| gnomAD v4 |
| 20 | g.44160279G= | CA2365647826 | JPH2 | c.508C= (p.His170=)
| |
| 20 | g.44160279G>T | CA409094246 | JPH2 | c.508C>A (p.His170Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160280C>A | CA409094249 | JPH2 | c.507G>T (p.Glu169Asp)
| |
| 20 | g.44160280C>G | CA409094250 | JPH2 | c.507G>C (p.Glu169Asp)
| |
| 20 | g.44160280C>T | CA510739713 | JPH2 | c.507G>A (p.Glu169=)
| gnomAD v4 |
| 20 | g.44160281T>A | CA409094251 | JPH2 | c.506A>T (p.Glu169Val)
| |
| 20 | g.44160281T>C | CA409094252 | JPH2 | c.506A>G (p.Glu169Gly)
| |
| 20 | g.44160281T>G | CA409094253 | JPH2 | c.506A>C (p.Glu169Ala)
| |
| 20 | g.44160282C>A | CA409094254 | JPH2 | c.505G>T (p.Glu169Ter)
| dbSNP gnomAD v4 |
| 20 | g.44160282C= | CA2365647827 | JPH2 | c.505G= (p.Glu169=)
| |
| 20 | g.44160282C>G | CA409094255 | JPH2 | c.505G>C (p.Glu169Gln)
| ClinVar dbSNP |
| 20 | g.44160282C>T | CA409094256 | JPH2 | c.505G>A (p.Glu169Lys)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160283G>A | CA510739716 | JPH2 | c.504C>T (p.Ser168=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160283G>C | CA409094257 | JPH2 | c.504C>G (p.Ser168Arg)
| |
| 20 | g.44160283G= | CA2365647828 | JPH2 | c.504C= (p.Ser168=)
| |
| 20 | g.44160283G>T | CA409094258 | JPH2 | c.504C>A (p.Ser168Arg)
| gnomAD v4 |
| 20 | g.44160284C>A | CA409094259 | JPH2 | c.503G>T (p.Ser168Ile)
| gnomAD v4 |
| 20 | g.44160284C>G | CA409094260 | JPH2 | c.503G>C (p.Ser168Thr)
| |
| 20 | g.44160284C>T | CA409094261 | JPH2 | c.503G>A (p.Ser168Asn)
| gnomAD v4 |
| 20 | g.44160285T>A | CA409094262 | JPH2 | c.502A>T (p.Ser168Cys)
| |
| 20 | g.44160285T>C | CA409094263 | JPH2 | c.502A>G (p.Ser168Gly)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160285T>G | CA351892 | JPH2 | c.502A>C (p.Ser168Arg)
| ClinVar dbSNP |
| 20 | g.44160285T= | CA2365647829 | JPH2 | c.502A= (p.Ser168=)
| |
| 20 | g.44160286G>A | CA510739720 | JPH2 | c.501C>T (p.Arg167=)
| |
| 20 | g.44160286G>C | CA510739722 | JPH2 | c.501C>G (p.Arg167=)
| |
| 20 | g.44160286G>T | CA510739723 | JPH2 | c.501C>A (p.Arg167=)
| gnomAD v4 |
| 20 | g.44160287C>A | CA409094264 | JPH2 | c.500G>T (p.Arg167Leu)
| gnomAD v4 |
| 20 | g.44160287C= | CA2365647830 | JPH2 | c.500G= (p.Arg167=)
| |
| 20 | g.44160287C>G | CA409094265 | JPH2 | c.500G>C (p.Arg167Pro)
| gnomAD v4 |
| 20 | g.44160287C>T | CA9868833 | JPH2 | c.500G>A (p.Arg167His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44160288G>A | CA409094266 | JPH2 | c.499C>T (p.Arg167Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160288G>C | CA409094267 | JPH2 | c.499C>G (p.Arg167Gly)
| |
| 20 | g.44160288G= | CA2365647831 | JPH2 | c.499C= (p.Arg167=)
| |
| 20 | g.44160288G>T | CA409094268 | JPH2 | c.499C>A (p.Arg167Ser)
| ClinVar gnomAD v4 |
| 20 | g.44160289C>A | CA510739169 | JPH2 | c.498G>T (p.Leu166=)
| gnomAD v4 |
| 20 | g.44160289C>G | CA510739168 | JPH2 | c.498G>C (p.Leu166=)
| |
| 20 | g.44160289C>T | CA510739167 | JPH2 | c.498G>A (p.Leu166=)
| ClinVar gnomAD v4 |
| 20 | g.44160290A= | CA2365647832 | JPH2 | c.497T= (p.Leu166=)
| |
| 20 | g.44160290A>C | CA10577122 | JPH2 | c.497T>G (p.Leu166Arg)
| ClinVar dbSNP |
| 20 | g.44160290A>G | CA409094269 | JPH2 | c.497T>C (p.Leu166Pro)
| gnomAD v4 |
| 20 | g.44160290A>T | CA409094270 | JPH2 | c.497T>A (p.Leu166Gln)
| gnomAD v4 |
| 20 | g.44160291G>A | CA510739173 | JPH2 | c.496C>T (p.Leu166=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160291G>C | CA409094271 | JPH2 | c.496C>G (p.Leu166Val)
| |
| 20 | g.44160291G= | CA2365647833 | JPH2 | c.496C= (p.Leu166=)
| |
| 20 | g.44160291G>T | CA409094272 | JPH2 | c.496C>A (p.Leu166Met)
| gnomAD v4 |
| 20 | g.44160292G>A | CA510739175 | JPH2 | c.495C>T (p.Ser165=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160292G>C | CA510739177 | JPH2 | c.495C>G (p.Ser165=)
| |
| 20 | g.44160292G= | CA2365647834 | JPH2 | c.495C= (p.Ser165=)
| |
| 20 | g.44160292G>T | CA510739179 | JPH2 | c.495C>A (p.Ser165=)
| |
| 20 | g.44160292_44160298del | CA2652956560 | JPH2 | c.489_495del (p.Ser164CysfsTer?)
| gnomAD v4 |
| 20 | g.44160293G>A | CA129220 | JPH2 | c.494C>T (p.Ser165Phe)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160293G>C | CA409094274 | JPH2 | c.494C>G (p.Ser165Cys)
| |
| 20 | g.44160293G= | CA2365647835 | JPH2 | c.494C= (p.Ser165=)
| |
| 20 | g.44160293G>T | CA409094273 | JPH2 | c.494C>A (p.Ser165Tyr)
| ClinVar gnomAD v4 |
| 20 | g.44160294A>C | CA409094275 | JPH2 | c.493T>G (p.Ser165Ala)
| |
| 20 | g.44160294A>G | CA409094276 | JPH2 | c.493T>C (p.Ser165Pro)
| |
| 20 | g.44160294A>T | CA409094277 | JPH2 | c.493T>A (p.Ser165Thr)
| |
| 20 | g.44160295C>A | CA510739184 | JPH2 | c.492G>T (p.Ser164=)
| gnomAD v4 |
| 20 | g.44160295C= | CA2365647836 | JPH2 | c.492G= (p.Ser164=)
| |
| 20 | g.44160295C>G | CA510739185 | JPH2 | c.492G>C (p.Ser164=)
| |
| 20 | g.44160295C>T | CA510739187 | JPH2 | c.492G>A (p.Ser164=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44160296G>A | CA409094278 | JPH2 | c.491C>T (p.Ser164Leu)
| gnomAD v4 |
| 20 | g.44160296G>C | CA409094279 | JPH2 | c.491C>G (p.Ser164Trp)
| |
| 20 | g.44160296G>T | CA409094280 | JPH2 | c.491C>A (p.Ser164Ter)
| gnomAD v4 |
| 20 | g.44160297A>C | CA409094281 | JPH2 | c.490T>G (p.Ser164Ala)
| |
| 20 | g.44160297A>G | CA409094282 | JPH2 | c.490T>C (p.Ser164Pro)
| |
| 20 | g.44160297A>T | CA409094283 | JPH2 | c.490T>A (p.Ser164Thr)
| |
| 20 | g.44160298C>A | CA510739191 | JPH2 | c.489G>T (p.Leu163=)
| dbSNP gnomAD v4 |
| 20 | g.44160298C>G | CA510739192 | JPH2 | c.489G>C (p.Leu163=)
| |
| 20 | g.44160298C>T | CA510739194 | JPH2 | c.489G>A (p.Leu163=)
| gnomAD v4 |
| 20 | g.44160299A>C | CA409094284 | JPH2 | c.488T>G (p.Leu163Arg)
| |
| 20 | g.44160299A>G | CA409094285 | JPH2 | c.488T>C (p.Leu163Pro)
| gnomAD v4 |
| 20 | g.44160299A>T | CA409094286 | JPH2 | c.488T>A (p.Leu163Gln)
| |
| 20 | g.44160300G>A | CA510739198 | JPH2 | c.487C>T (p.Leu163=)
| gnomAD v4 |
| 20 | g.44160300G>C | CA409094287 | JPH2 | c.487C>G (p.Leu163Val)
| |
| 20 | g.44160300G>T | CA409094288 | JPH2 | c.487C>A (p.Leu163Met)
| gnomAD v4 |
| 20 | g.44160301C>A | CA510739199 | JPH2 | c.486G>T (p.Ser162=)
| gnomAD v4 |
| 20 | g.44160301C>G | CA510739200 | JPH2 | c.486G>C (p.Ser162=)
| |
| 20 | g.44160301C>T | CA510739201 | JPH2 | c.486G>A (p.Ser162=)
| gnomAD v4 |
| 20 | g.44160302G>A | CA409094289 | JPH2 | c.485C>T (p.Ser162Leu)
| gnomAD v4 |
| 20 | g.44160302G>C | CA409094291 | JPH2 | c.485C>G (p.Ser162Trp)
| |
| 20 | g.44160302G>T | CA409094290 | JPH2 | c.485C>A (p.Ser162Ter)
| gnomAD v4 |
| 20 | g.44160302_44160305del | CA2652956586 | JPH2 | c.482_485del (p.Thr161SerfsTer?)
| gnomAD v4 |
| 20 | g.44160303A>C | CA409094292 | JPH2 | c.484T>G (p.Ser162Ala)
| |
| 20 | g.44160303A>G | CA409094293 | JPH2 | c.484T>C (p.Ser162Pro)
| |
| 20 | g.44160303A>T | CA409094294 | JPH2 | c.484T>A (p.Ser162Thr)
| |
| 20 | g.44160303_44160304delinsAC | CA2365647837 | JPH2 | c.483_484delinsGT (p.Thr161=)
| |
| 20 | g.44160304del | CA636173693 | JPH2 | c.483del (p.Ser162ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160304C>A | CA510739203 | JPH2 | c.483G>T (p.Thr161=)
| dbSNP gnomAD v4 |
| 20 | g.44160304C= | CA2365647838 | JPH2 | c.483G= (p.Thr161=)
| |
| 20 | g.44160304C>G | CA510739204 | JPH2 | c.483G>C (p.Thr161=)
| |
| 20 | g.44160304C>T | CA9868834 | JPH2 | c.483G>A (p.Thr161=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160305G>A | CA409094295 | JPH2 | c.482C>T (p.Thr161Met)
| gnomAD v4 |
| 20 | g.44160305G>C | CA409094296 | JPH2 | c.482C>G (p.Thr161Arg)
| dbSNP |
| 20 | g.44160305G= | CA2365647839 | JPH2 | c.482C= (p.Thr161=)
| |
| 20 | g.44160305G>T | CA345816 | JPH2 | c.482C>A (p.Thr161Lys)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160306T>A | CA409094297 | JPH2 | c.481A>T (p.Thr161Ser)
| |
| 20 | g.44160306T>C | CA409094298 | JPH2 | c.481A>G (p.Thr161Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160306T>G | CA409094299 | JPH2 | c.481A>C (p.Thr161Pro)
| |
| 20 | g.44160306T= | CA2365647840 | JPH2 | c.481A= (p.Thr161=)
| |
| 20 | g.44160307G>A | CA510739206 | JPH2 | c.480C>T (p.Arg160=)
| gnomAD v4 |
| 20 | g.44160307G>C | CA510739208 | JPH2 | c.480C>G (p.Arg160=)
| |
| 20 | g.44160307G>T | CA510739210 | JPH2 | c.480C>A (p.Arg160=)
| gnomAD v4 |
| 20 | g.44160312_44160323del | CA2652956604 | JPH2 | c.469_480del (p.Ser157_Arg160del)
| gnomAD v4 |
| 20 | g.44160309_44160333del | CA2577404050 | JPH2 | c.456_480del (p.Val153ArgfsTer?)
| |
| 20 | g.44160308C>A | CA409094302 | JPH2 | c.479G>T (p.Arg160Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160308C= | CA2365647841 | JPH2 | c.479G= (p.Arg160=)
| |
| 20 | g.44160308C>G | CA409094301 | JPH2 | c.479G>C (p.Arg160Pro)
| gnomAD v4 |
| 20 | g.44160308C>T | CA409094300 | JPH2 | c.479G>A (p.Arg160His)
| ClinVar gnomAD v4 |
| 20 | g.44160309_44160337del | CA2652956609 | JPH2 | c.451_479del (p.Met151HisfsTer?)
| gnomAD v4 |
| 20 | g.44160309G>A | CA314629798 | JPH2 | c.478C>T (p.Arg160Cys)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160309G>C | CA409094303 | JPH2 | c.478C>G (p.Arg160Gly)
| |
| 20 | g.44160309G= | CA2365647842 | JPH2 | c.478C= (p.Arg160=)
| |
| 20 | g.44160309G>T | CA409094304 | JPH2 | c.478C>A (p.Arg160Ser)
| gnomAD v4 |
| 20 | g.44160310C>A | CA510739214 | JPH2 | c.477G>T (p.Leu159=)
| |
| 20 | g.44160310C>G | CA510739217 | JPH2 | c.477G>C (p.Leu159=)
| |
| 20 | g.44160310C>T | CA510739216 | JPH2 | c.477G>A (p.Leu159=)
| gnomAD v4 |
| 20 | g.44160311A= | CA2365647843 | JPH2 | c.476T= (p.Leu159=)
| |
| 20 | g.44160311A>C | CA409094305 | JPH2 | c.476T>G (p.Leu159Arg)
| |
| 20 | g.44160311A>G | CA409094306 | JPH2 | c.476T>C (p.Leu159Pro)
| gnomAD v4 |
| 20 | g.44160311A>T | CA10587929 | JPH2 | c.476T>A (p.Leu159Gln)
| ClinVar dbSNP |
| 20 | g.44160312G>A | CA510739218 | JPH2 | c.475C>T (p.Leu159=)
| gnomAD v4 |
| 20 | g.44160312G>C | CA409094307 | JPH2 | c.475C>G (p.Leu159Val)
| |
| 20 | g.44160312G>T | CA409094308 | JPH2 | c.475C>A (p.Leu159Met)
| gnomAD v4 |
| 20 | g.44160313C>A | CA510739219 | JPH2 | c.474G>T (p.Pro158=)
| gnomAD v4 |
| 20 | g.44160313C>G | CA510739220 | JPH2 | c.474G>C (p.Pro158=)
| |
| 20 | g.44160313C>T | CA510739221 | JPH2 | c.474G>A (p.Pro158=)
| gnomAD v4 |
| 20 | g.44160314G>A | CA409094309 | JPH2 | c.473C>T (p.Pro158Leu)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160314G>C | CA409094310 | JPH2 | c.473C>G (p.Pro158Arg)
| |
| 20 | g.44160314G= | CA2365647844 | JPH2 | c.473C= (p.Pro158=)
| |
| 20 | g.44160314G>T | CA409094311 | JPH2 | c.473C>A (p.Pro158Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160315G>A | CA409094313 | JPH2 | c.472C>T (p.Pro158Ser)
| |
| 20 | g.44160315G>C | CA409094314 | JPH2 | c.472C>G (p.Pro158Ala)
| |
| 20 | g.44160315G>T | CA409094312 | JPH2 | c.472C>A (p.Pro158Thr)
| |
| 20 | g.44160316C>A | CA510739222 | JPH2 | c.471G>T (p.Ser157=)
| gnomAD v4 |
| 20 | g.44160316C= | CA2365647845 | JPH2 | c.471G= (p.Ser157=)
| |
| 20 | g.44160316C>G | CA510739223 | JPH2 | c.471G>C (p.Ser157=)
| |
| 20 | g.44160316C>T | CA510739224 | JPH2 | c.471G>A (p.Ser157=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44160317_44160325del | CA2652956617 | JPH2 | c.463_471del (p.Val155_Ser157del)
| gnomAD v4 |
| 20 | g.44160317G>A | CA9868835 | JPH2 | c.470C>T (p.Ser157Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44160317G>C | CA409094315 | JPH2 | c.470C>G (p.Ser157Trp)
| |
| 20 | g.44160317G= | CA2365647846 | JPH2 | c.470C= (p.Ser157=)
| |
| 20 | g.44160317G>T | CA409094316 | JPH2 | c.470C>A (p.Ser157Ter)
| gnomAD v4 |
| 20 | g.44160318A>C | CA409094317 | JPH2 | c.469T>G (p.Ser157Ala)
| |
| 20 | g.44160318A>G | CA409094318 | JPH2 | c.469T>C (p.Ser157Pro)
| |
| 20 | g.44160318A>T | CA409094319 | JPH2 | c.469T>A (p.Ser157Thr)
| |
| 20 | g.44160319G>A | CA510739225 | JPH2 | c.468C>T (p.Arg156=)
| gnomAD v4 |
| 20 | g.44160319G>C | CA314629799 | JPH2 | c.468C>G (p.Arg156=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160319G= | CA2365647847 | JPH2 | c.468C= (p.Arg156=)
| |
| 20 | g.44160319G>T | CA510739226 | JPH2 | c.468C>A (p.Arg156=)
| gnomAD v4 |
| 20 | g.44160320C>A | CA409094320 | JPH2 | c.467G>T (p.Arg156Leu)
| gnomAD v4 |
| 20 | g.44160320C= | CA2365647848 | JPH2 | c.467G= (p.Arg156=)
| |
| 20 | g.44160320C>G | CA409094321 | JPH2 | c.467G>C (p.Arg156Pro)
| |
| 20 | g.44160320C>T | CA409094322 | JPH2 | c.467G>A (p.Arg156His)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160321G>A | CA314629803 | JPH2 | c.466C>T (p.Arg156Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160321G>C | CA409094323 | JPH2 | c.466C>G (p.Arg156Gly)
| gnomAD v4 |
| 20 | g.44160321G= | CA2365647849 | JPH2 | c.466C= (p.Arg156=)
| |
| 20 | g.44160321G>T | CA409094324 | JPH2 | c.466C>A (p.Arg156Ser)
| gnomAD v4 |
| 20 | g.44160322C>A | CA510739228 | JPH2 | c.465G>T (p.Val155=)
| gnomAD v4 |
| 20 | g.44160322C= | CA2365647850 | JPH2 | c.465G= (p.Val155=)
| |
| 20 | g.44160322C>G | CA510739230 | JPH2 | c.465G>C (p.Val155=)
| |
| 20 | g.44160322C>T | CA510739229 | JPH2 | c.465G>A (p.Val155=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160323A= | CA2365647851 | JPH2 | c.464T= (p.Val155=)
| |
| 20 | g.44160323A>C | CA409094327 | JPH2 | c.464T>G (p.Val155Gly)
| gnomAD v4 |
| 20 | g.44160323A>G | CA409094326 | JPH2 | c.464T>C (p.Val155Ala)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160323A>T | CA409094325 | JPH2 | c.464T>A (p.Val155Glu)
| |
| 20 | g.44160324C>A | CA409094328 | JPH2 | c.463G>T (p.Val155Leu)
| gnomAD v4 |
| 20 | g.44160324C>G | CA409094329 | JPH2 | c.463G>C (p.Val155Leu)
| |
| 20 | g.44160324C>T | CA409094330 | JPH2 | c.463G>A (p.Val155Met)
| gnomAD v4 |
| 20 | g.44160325C>A | CA510739231 | JPH2 | c.462G>T (p.Val154=)
| gnomAD v4 |
| 20 | g.44160325C>G | CA510739232 | JPH2 | c.462G>C (p.Val154=)
| |
| 20 | g.44160325C>T | CA510739234 | JPH2 | c.462G>A (p.Val154=)
| gnomAD v4 |
| 20 | g.44160326A>C | CA409094331 | JPH2 | c.461T>G (p.Val154Gly)
| |
| 20 | g.44160326A>G | CA409094332 | JPH2 | c.461T>C (p.Val154Ala)
| gnomAD v4 |
| 20 | g.44160326A>T | CA409094333 | JPH2 | c.461T>A (p.Val154Glu)
| |
| 20 | g.44160327C>A | CA409094334 | JPH2 | c.460G>T (p.Val154Leu)
| |
| 20 | g.44160327C>G | CA409094335 | JPH2 | c.460G>C (p.Val154Leu)
| |
| 20 | g.44160327C>T | CA409094336 | JPH2 | c.460G>A (p.Val154Met)
| gnomAD v4 |
| 20 | g.44160328del | CA2652956664 | JPH2 | c.460del (p.Val154TrpfsTer?)
| gnomAD v4 |
| 20 | g.44160328C>A | CA510739241 | JPH2 | c.459G>T (p.Val153=)
| gnomAD v4 |
| 20 | g.44160328C>G | CA510739242 | JPH2 | c.459G>C (p.Val153=)
| |
| 20 | g.44160328C>T | CA510739243 | JPH2 | c.459G>A (p.Val153=)
| gnomAD v4 |
| 20 | g.44160329A= | CA2365647852 | JPH2 | c.458T= (p.Val153=)
| |
| 20 | g.44160329A>C | CA409094337 | JPH2 | c.458T>G (p.Val153Gly)
| |
| 20 | g.44160329A>G | CA335217 | JPH2 | c.458T>C (p.Val153Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160329A>T | CA409094338 | JPH2 | c.458T>A (p.Val153Glu)
| |
| 20 | g.44160330C>A | CA314629812 | JPH2 | c.457G>T (p.Val153Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160330C= | CA2365647853 | JPH2 | c.457G= (p.Val153=)
| |
| 20 | g.44160330C>G | CA409094339 | JPH2 | c.457G>C (p.Val153Leu)
| |
| 20 | g.44160330C>T | CA9868837 | JPH2 | c.457G>A (p.Val153Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44160332_44160340dup | CA9868836 | JPH2 | c.449_457dup (p.Ala152_Val153insGlyMetAla)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160331G>A | CA9868838 | JPH2 | c.456C>T (p.Ala152=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160331G>C | CA510739251 | JPH2 | c.456C>G (p.Ala152=)
| gnomAD v4 |
| 20 | g.44160331G= | CA2365647854 | JPH2 | c.456C= (p.Ala152=)
| |
| 20 | g.44160331G>T | CA510739250 | JPH2 | c.456C>A (p.Ala152=)
| gnomAD v4 COSMIC |
| 20 | g.44160332G>A | CA314629841 | JPH2 | c.455C>T (p.Ala152Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160332G>C | CA409094341 | JPH2 | c.455C>G (p.Ala152Gly)
| |
| 20 | g.44160332G= | CA2365647855 | JPH2 | c.455C= (p.Ala152=)
| |
| 20 | g.44160332G>T | CA409094340 | JPH2 | c.455C>A (p.Ala152Asp)
| gnomAD v4 |
| 20 | g.44160333C>A | CA409094342 | JPH2 | c.454G>T (p.Ala152Ser)
| gnomAD v4 |
| 20 | g.44160333C>G | CA409094343 | JPH2 | c.454G>C (p.Ala152Pro)
| |
| 20 | g.44160333C>T | CA409094344 | JPH2 | c.454G>A (p.Ala152Thr)
| gnomAD v4 |
| 20 | g.44160334C>A | CA409094345 | JPH2 | c.453G>T (p.Met151Ile)
| gnomAD v4 |
| 20 | g.44160334C>G | CA409094346 | JPH2 | c.453G>C (p.Met151Ile)
| |
| 20 | g.44160334C>T | CA409094347 | JPH2 | c.453G>A (p.Met151Ile)
| |
| 20 | g.44160335A>C | CA409094350 | JPH2 | c.452T>G (p.Met151Arg)
| |
| 20 | g.44160335A>G | CA409094349 | JPH2 | c.452T>C (p.Met151Thr)
| |
| 20 | g.44160335A>T | CA409094348 | JPH2 | c.452T>A (p.Met151Lys)
| |
| 20 | g.44160336T>A | CA409094351 | JPH2 | c.451A>T (p.Met151Leu)
| |
| 20 | g.44160336T>C | CA409094352 | JPH2 | c.451A>G (p.Met151Val)
| gnomAD v4 |
| 20 | g.44160336T>G | CA409094353 | JPH2 | c.451A>C (p.Met151Leu)
| |
| 20 | g.44160337C>A | CA510739262 | JPH2 | c.450G>T (p.Gly150=)
| gnomAD v4 |
| 20 | g.44160337C>G | CA510739263 | JPH2 | c.450G>C (p.Gly150=)
| |
| 20 | g.44160337C>T | CA510739265 | JPH2 | c.450G>A (p.Gly150=)
| gnomAD v4 |
| 20 | g.44160338C>A | CA409094354 | JPH2 | c.449G>T (p.Gly150Val)
| gnomAD v4 |
| 20 | g.44160338C>G | CA409094355 | JPH2 | c.449G>C (p.Gly150Ala)
| gnomAD v4 |
| 20 | g.44160338C>T | CA409094356 | JPH2 | c.449G>A (p.Gly150Glu)
| gnomAD v4 |
| 20 | g.44160339C>A | CA409094357 | JPH2 | c.448G>T (p.Gly150Trp)
| gnomAD v4 |
| 20 | g.44160339C= | CA2365647856 | JPH2 | c.448G= (p.Gly150=)
| |
| 20 | g.44160339C>G | CA409094359 | JPH2 | c.448G>C (p.Gly150Arg)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160339C>T | CA409094358 | JPH2 | c.448G>A (p.Gly150Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160340G>A | CA510739271 | JPH2 | c.447C>T (p.Tyr149=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160340G>C | CA409094360 | JPH2 | c.447C>G (p.Tyr149Ter)
| |
| 20 | g.44160340G= | CA2365647857 | JPH2 | c.447C= (p.Tyr149=)
| |
| 20 | g.44160340G>T | CA409094361 | JPH2 | c.447C>A (p.Tyr149Ter)
| COSMIC |
| 20 | g.44160341T>A | CA409094362 | JPH2 | c.446A>T (p.Tyr149Phe)
| |
| 20 | g.44160341T>C | CA409094363 | JPH2 | c.446A>G (p.Tyr149Cys)
| |
| 20 | g.44160341T>G | CA409094364 | JPH2 | c.446A>C (p.Tyr149Ser)
| |
| 20 | g.44160342A>C | CA409094365 | JPH2 | c.445T>G (p.Tyr149Asp)
| |
| 20 | g.44160342A>G | CA409094366 | JPH2 | c.445T>C (p.Tyr149His)
| |
| 20 | g.44160342A>T | CA409094367 | JPH2 | c.445T>A (p.Tyr149Asn)
| |
| 20 | g.44160343G>A | CA510739280 | JPH2 | c.444C>T (p.Pro148=)
| |
| 20 | g.44160343G>C | CA510739281 | JPH2 | c.444C>G (p.Pro148=)
| |
| 20 | g.44160343G>T | CA510739282 | JPH2 | c.444C>A (p.Pro148=)
| gnomAD v4 |
| 20 | g.44160344G>A | CA9868839 | JPH2 | c.443C>T (p.Pro148Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44160344G>C | CA409094368 | JPH2 | c.443C>G (p.Pro148Arg)
| |
| 20 | g.44160344G= | CA2365647858 | JPH2 | c.443C= (p.Pro148=)
| |
| 20 | g.44160344G>T | CA409094369 | JPH2 | c.443C>A (p.Pro148His)
| dbSNP gnomAD v4 |
| 20 | g.44160345G>A | CA409094370 | JPH2 | c.442C>T (p.Pro148Ser)
| gnomAD v4 |
| 20 | g.44160345G>C | CA409094372 | JPH2 | c.442C>G (p.Pro148Ala)
| |
| 20 | g.44160345G>T | CA409094371 | JPH2 | c.442C>A (p.Pro148Thr)
| gnomAD v4 |
| 20 | g.44160346C>A | CA510739294 | JPH2 | c.441G>T (p.Val147=)
| gnomAD v4 |
| 20 | g.44160346C>G | CA510739292 | JPH2 | c.441G>C (p.Val147=)
| |
| 20 | g.44160346C>T | CA510739290 | JPH2 | c.441G>A (p.Val147=)
| gnomAD v4 |
| 20 | g.44160347A>C | CA409094373 | JPH2 | c.440T>G (p.Val147Gly)
| |
| 20 | g.44160347A>G | CA409094374 | JPH2 | c.440T>C (p.Val147Ala)
| |
| 20 | g.44160347A>T | CA409094375 | JPH2 | c.440T>A (p.Val147Glu)
| |
| 20 | g.44160348C>A | CA314629842 | JPH2 | c.439G>T (p.Val147Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160348C= | CA2365647859 | JPH2 | c.439G= (p.Val147=)
| |
| 20 | g.44160348C>G | CA409094376 | JPH2 | c.439G>C (p.Val147Leu)
| |
| 20 | g.44160348C>T | CA16616224 | JPH2 | c.439G>A (p.Val147Met)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160349G>A | CA510739300 | JPH2 | c.438C>T (p.Ser146=)
| gnomAD v4 COSMIC |
| 20 | g.44160349G>C | CA409094377 | JPH2 | c.438C>G (p.Ser146Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160349G= | CA2365647860 | JPH2 | c.438C= (p.Ser146=)
| |
| 20 | g.44160349G>T | CA9868840 | JPH2 | c.438C>A (p.Ser146Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160349_44160359delinsGCTCTGGCGTA | CA2365647861 | JPH2 | c.428_438delinsTACGCCAGAGC (p.Val143=)
| |
| 20 | g.44160350C>A | CA409094378 | JPH2 | c.437G>T (p.Ser146Ile)
| gnomAD v4 |
| 20 | g.44160350C= | CA2365647862 | JPH2 | c.437G= (p.Ser146=)
| |
| 20 | g.44160350C>G | CA409094379 | JPH2 | c.437G>C (p.Ser146Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160350C>T | CA409094380 | JPH2 | c.437G>A (p.Ser146Asn)
| dbSNP gnomAD v2 |
| 20 | g.44160353_44160362del | CA636173694 | JPH2 | c.428_437del (p.Val143AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160351T>A | CA409094383 | JPH2 | c.436A>T (p.Ser146Cys)
| |
| 20 | g.44160351T>C | CA409094382 | JPH2 | c.436A>G (p.Ser146Gly)
| ClinVar dbSNP |
| 20 | g.44160351T>G | CA409094381 | JPH2 | c.436A>C (p.Ser146Arg)
| |
| 20 | g.44160351T= | CA2365647863 | JPH2 | c.436A= (p.Ser146=)
| |
| 20 | g.44160352C>A | CA409094384 | JPH2 | c.435G>T (p.Gln145His)
| |
| 20 | g.44160352C>G | CA409094385 | JPH2 | c.435G>C (p.Gln145His)
| gnomAD v4 |
| 20 | g.44160352C>T | CA510739318 | JPH2 | c.435G>A (p.Gln145=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160353T>A | CA409094386 | JPH2 | c.434A>T (p.Gln145Leu)
| |
| 20 | g.44160353T>C | CA409094387 | JPH2 | c.434A>G (p.Gln145Arg)
| |
| 20 | g.44160353T>G | CA409094388 | JPH2 | c.434A>C (p.Gln145Pro)
| |
| 20 | g.44160354G>A | CA409094389 | JPH2 | c.433C>T (p.Gln145Ter)
| |
| 20 | g.44160354G>C | CA409094390 | JPH2 | c.433C>G (p.Gln145Glu)
| gnomAD v4 |
| 20 | g.44160354G>T | CA409094391 | JPH2 | c.433C>A (p.Gln145Lys)
| gnomAD v4 |
| 20 | g.44160355G>A | CA510739324 | JPH2 | c.432C>T (p.Arg144=)
| gnomAD v4 |
| 20 | g.44160355G>C | CA510739326 | JPH2 | c.432C>G (p.Arg144=)
| |
| 20 | g.44160355G>T | CA510739328 | JPH2 | c.432C>A (p.Arg144=)
| gnomAD v4 |
| 20 | g.44160356C>A | CA409094392 | JPH2 | c.431G>T (p.Arg144Leu)
| gnomAD v4 |
| 20 | g.44160356C= | CA2365647864 | JPH2 | c.431G= (p.Arg144=)
| |
| 20 | g.44160356C>G | CA409094393 | JPH2 | c.431G>C (p.Arg144Pro)
| |
| 20 | g.44160356C>T | CA409094394 | JPH2 | c.431G>A (p.Arg144His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160357G>A | CA409094397 | JPH2 | c.430C>T (p.Arg144Cys)
| ClinVar gnomAD v4 COSMIC |
| 20 | g.44160357G>C | CA409094396 | JPH2 | c.430C>G (p.Arg144Gly)
| gnomAD v4 |
| 20 | g.44160357G>T | CA409094395 | JPH2 | c.430C>A (p.Arg144Ser)
| gnomAD v4 |
| 20 | g.44160358T>A | CA510739339 | JPH2 | c.429A>T (p.Val143=)
| |
| 20 | g.44160358T>C | CA510739341 | JPH2 | c.429A>G (p.Val143=)
| |
| 20 | g.44160358T>G | CA510739342 | JPH2 | c.429A>C (p.Val143=)
| |
| 20 | g.44160359A>C | CA409094398 | JPH2 | c.428T>G (p.Val143Gly)
| |
| 20 | g.44160359A>G | CA409094400 | JPH2 | c.428T>C (p.Val143Ala)
| |
| 20 | g.44160359A>T | CA409094399 | JPH2 | c.428T>A (p.Val143Glu)
| |
| 20 | g.44160360C>A | CA409094401 | JPH2 | c.427G>T (p.Val143Leu)
| |
| 20 | g.44160360C>G | CA409094402 | JPH2 | c.427G>C (p.Val143Leu)
| gnomAD v4 |
| 20 | g.44160360C>T | CA409094403 | JPH2 | c.427G>A (p.Val143Ile)
| gnomAD v4 |
| 20 | g.44160361_44160362del | CA2695229779 | JPH2 | c.426_427del (p.Val143ThrfsTer?)
| |
| 20 | g.44160361T>A | CA510739352 | JPH2 | c.426A>T (p.Gly142=)
| |
| 20 | g.44160361T>C | CA510739354 | JPH2 | c.426A>G (p.Gly142=)
| gnomAD v4 |
| 20 | g.44160361T>G | CA510739355 | JPH2 | c.426A>C (p.Gly142=)
| gnomAD v4 |
| 20 | g.44160362C>A | CA409094404 | JPH2 | c.425G>T (p.Gly142Val)
| |
| 20 | g.44160362C= | CA2365647865 | JPH2 | c.425G= (p.Gly142=)
| |
| 20 | g.44160362C>G | CA409094405 | JPH2 | c.425G>C (p.Gly142Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160362C>T | CA409094406 | JPH2 | c.425G>A (p.Gly142Glu)
| |
| 20 | g.44160362_44160381del | CA2652956802 | JPH2 | c.406_425del (p.Gly136SerfsTer?)
| gnomAD v4 |
| 20 | g.44160363C>A | CA9868841 | JPH2 | c.424G>T (p.Gly142Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44160363C= | CA2365647866 | JPH2 | c.424G= (p.Gly142=)
| |
| 20 | g.44160363C>G | CA409094407 | JPH2 | c.424G>C (p.Gly142Arg)
| gnomAD v4 |
| 20 | g.44160363C>T | CA409094408 | JPH2 | c.424G>A (p.Gly142Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44160364G>A | CA510739368 | JPH2 | c.423C>T (p.Tyr141=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44160364G>C | CA409094409 | JPH2 | c.423C>G (p.Tyr141Ter)
| |
| 20 | g.44160364G= | CA2365647867 | JPH2 | c.423C= (p.Tyr141=)
| |
| 20 | g.44160364G>T | CA409094410 | JPH2 | c.423C>A (p.Tyr141Ter)
| |
| 20 | g.44160365T>A | CA409094413 | JPH2 | c.422A>T (p.Tyr141Phe)
| |
| 20 | g.44160365T>C | CA409094412 | JPH2 | c.422A>G (p.Tyr141Cys)
| |
| 20 | g.44160365T>G | CA409094411 | JPH2 | c.422A>C (p.Tyr141Ser)
| |
| 20 | g.44160366A= | CA2365647868 | JPH2 | c.421T= (p.Tyr141=)
| |
| 20 | g.44160366A>C | CA409094414 | JPH2 | c.421T>G (p.Tyr141Asp)
| |
| 20 | g.44160366A>G | CA129218 | JPH2 | c.421T>C (p.Tyr141His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160366A>T | CA409094415 | JPH2 | c.421T>A (p.Tyr141Asn)
| ClinVar |
| 20 | g.44160367del | CA2652956827 | JPH2 | c.420del (p.Tyr141ThrfsTer?)
| gnomAD v4 |
| 20 | g.44160367G>A | CA510739381 | JPH2 | c.420C>T (p.Gly140=)
| gnomAD v4 |
| 20 | g.44160367G>C | CA510739382 | JPH2 | c.420C>G (p.Gly140=)
| |
| 20 | g.44160367G>T | CA510739384 | JPH2 | c.420C>A (p.Gly140=)
| gnomAD v4 |
| 20 | g.44160368C>A | CA409094416 | JPH2 | c.419G>T (p.Gly140Val)
| gnomAD v4 |
| 20 | g.44160368C>G | CA409094417 | JPH2 | c.419G>C (p.Gly140Ala)
| gnomAD v4 |
| 20 | g.44160368C>T | CA409094418 | JPH2 | c.419G>A (p.Gly140Asp)
| gnomAD v4 |
| 20 | g.44160369C>A | CA409094419 | JPH2 | c.418G>T (p.Gly140Cys)
| |
| 20 | g.44160369C>G | CA409094420 | JPH2 | c.418G>C (p.Gly140Arg)
| |
| 20 | g.44160369C>T | CA409094421 | JPH2 | c.418G>A (p.Gly140Ser)
| gnomAD v4 |
| 20 | g.44160370A>C | CA409094422 | JPH2 | c.417T>G (p.His139Gln)
| |
| 20 | g.44160370A>G | CA510739391 | JPH2 | c.417T>C (p.His139=)
| gnomAD v4 |
| 20 | g.44160370A>T | CA409094423 | JPH2 | c.417T>A (p.His139Gln)
| |
| 20 | g.44160371T>A | CA409094426 | JPH2 | c.416A>T (p.His139Leu)
| |
| 20 | g.44160371T>C | CA409094425 | JPH2 | c.416A>G (p.His139Arg)
| ClinVar dbSNP |
| 20 | g.44160371T>G | CA409094424 | JPH2 | c.416A>C (p.His139Pro)
| |
| 20 | g.44160371T= | CA2365647869 | JPH2 | c.416A= (p.His139=)
| |
| 20 | g.44160372G>A | CA409094427 | JPH2 | c.415C>T (p.His139Tyr)
| |
| 20 | g.44160372G>C | CA409094428 | JPH2 | c.415C>G (p.His139Asp)
| |
| 20 | g.44160372G>T | CA409094429 | JPH2 | c.415C>A (p.His139Asn)
| gnomAD v4 COSMIC |
| 20 | g.44160373G>A | CA510739412 | JPH2 | c.414C>T (p.Arg138=)
| |
| 20 | g.44160373G>C | CA510739414 | JPH2 | c.414C>G (p.Arg138=)
| gnomAD v4 |
| 20 | g.44160373G= | CA2365647870 | JPH2 | c.414C= (p.Arg138=)
| |
| 20 | g.44160373G>T | CA9868842 | JPH2 | c.414C>A (p.Arg138=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160374C>A | CA409094430 | JPH2 | c.413G>T (p.Arg138Leu)
| gnomAD v4 |
| 20 | g.44160374C>G | CA409094431 | JPH2 | c.413G>C (p.Arg138Pro)
| gnomAD v4 |
| 20 | g.44160374C>T | CA409094432 | JPH2 | c.413G>A (p.Arg138His)
| gnomAD v4 |
| 20 | g.44160375G>A | CA409094433 | JPH2 | c.412C>T (p.Arg138Cys)
| gnomAD v4 |
| 20 | g.44160375G>C | CA409094434 | JPH2 | c.412C>G (p.Arg138Gly)
| |
| 20 | g.44160375G= | CA2365647871 | JPH2 | c.412C= (p.Arg138=)
| |
| 20 | g.44160375G>T | CA409094435 | JPH2 | c.412C>A (p.Arg138Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160376C>A | CA409094436 | JPH2 | c.411G>T (p.Met137Ile)
| |
| 20 | g.44160376C>G | CA409094437 | JPH2 | c.411G>C (p.Met137Ile)
| |
| 20 | g.44160376C>T | CA409094438 | JPH2 | c.411G>A (p.Met137Ile)
| gnomAD v4 |
| 20 | g.44160377A>C | CA409094441 | JPH2 | c.410T>G (p.Met137Arg)
| |
| 20 | g.44160377A>G | CA409094439 | JPH2 | c.410T>C (p.Met137Thr)
| |
| 20 | g.44160377A>T | CA409094440 | JPH2 | c.410T>A (p.Met137Lys)
| |
| 20 | g.44160378T>A | CA409094442 | JPH2 | c.409A>T (p.Met137Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160378T>C | CA409094443 | JPH2 | c.409A>G (p.Met137Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160378T>G | CA409094444 | JPH2 | c.409A>C (p.Met137Leu)
| |
| 20 | g.44160378T= | CA2365647872 | JPH2 | c.409A= (p.Met137=)
| |
| 20 | g.44160379G>A | CA510739432 | JPH2 | c.408C>T (p.Gly136=)
| |
| 20 | g.44160379G>C | CA510739433 | JPH2 | c.408C>G (p.Gly136=)
| |
| 20 | g.44160379G>T | CA510739435 | JPH2 | c.408C>A (p.Gly136=)
| gnomAD v4 |
