Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.244863508_244864169del | CA2580063520 | HNRNPU | c.143_634+170del n.328_819+170del n.374_922+113del c.143_691+113del n.367_858+170del n.327_818+170del | ClinVar |
1 | g.244863934_244863963dup | CA2651343513 | HNRNPU | c.28_57dup c.350_379dup (p.Ala126_Ala127insAspSerGlyProMetGluGluGluGluAla) n.535_564dup c.134_163dup (p.Ala54_Ala55insAspSerGlyProMetGluGluGluGluAla) n.581_610dup c.50_79dup (p.Ala26_Ala27insAspSerGlyProMetGluGluGluGluAla) n.574_603dup n.534_563dup | gnomAD v4 |
1 | g.244863931_244863933dup | CA2574464055 | HNRNPU | c.53_55dup c.375_377dup (p.Ala126_Ala127insAla) n.560_562dup c.159_161dup (p.Ala54_Ala55insAla) n.606_608dup c.75_77dup (p.Ala26_Ala27insAla) n.599_601dup n.559_561dup | |
1 | g.244863931_244863934delinsGCCT | CA1231007511 | HNRNPU | c.52_55delinsAGGC c.374_377delinsAGGC (p.Glu125=) n.559_562delinsAGGC c.158_161delinsAGGC (p.Glu53=) n.605_608delinsAGGC c.74_77delinsAGGC (p.Glu25=) n.598_601delinsAGGC n.558_561delinsAGGC | |
1 | g.244863932C>A | CA345497259 | HNRNPU | c.54G>T c.376G>T (p.Ala126Ser) n.561G>T c.160G>T (p.Ala54Ser) n.607G>T c.76G>T (p.Ala26Ser) n.600G>T n.560G>T | |
1 | g.244863932C>G | CA345497260 | HNRNPU | c.54G>C c.376G>C (p.Ala126Pro) n.561G>C c.160G>C (p.Ala54Pro) n.607G>C c.76G>C (p.Ala26Pro) n.600G>C n.560G>C | ClinVar |
1 | g.244863932C>T | CA345497261 | HNRNPU | c.54G>A c.376G>A (p.Ala126Thr) n.561G>A c.160G>A (p.Ala54Thr) n.607G>A c.76G>A (p.Ala26Thr) n.600G>A n.560G>A | |
1 | g.244863932_244863945delinsCCTCCTCCTCCTCC | CA1148437400 | HNRNPU | c.41_54delinsGGAGGAGGAGGAGG c.363_376delinsGGAGGAGGAGGAGG (p.Met121=) n.548_561delinsGGAGGAGGAGGAGG c.147_160delinsGGAGGAGGAGGAGG (p.Met49=) n.594_607delinsGGAGGAGGAGGAGG c.63_76delinsGGAGGAGGAGGAGG (p.Met21=) n.587_600delinsGGAGGAGGAGGAGG n.547_560delinsGGAGGAGGAGGAGG | |
1 | g.244863943_244863945dup | CA1486811 | HNRNPU | c.52_54dup c.374_376dup (p.Glu125_Ala126insGlu) n.559_561dup c.158_160dup (p.Glu53_Ala54insGlu) n.605_607dup c.74_76dup (p.Glu25_Ala26insGlu) n.598_600dup n.558_560dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863940_244863945dup | CA1014270480 | HNRNPU | c.49_54dup c.371_376dup (p.Glu125_Ala126insGluGlu) n.556_561dup c.155_160dup (p.Glu53_Ala54insGluGlu) n.602_607dup c.71_76dup (p.Glu25_Ala26insGluGlu) n.595_600dup n.555_560dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863943_244863945del | CA1486810 | HNRNPU | c.52_54del c.374_376del (p.Glu125del) n.559_561del c.158_160del (p.Glu53del) n.605_607del c.74_76del (p.Glu25del) n.598_600del n.558_560del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863933C>A | CA345497262 | HNRNPU | c.53G>T c.375G>T (p.Glu125Asp) n.560G>T c.159G>T (p.Glu53Asp) n.606G>T c.75G>T (p.Glu25Asp) n.599G>T n.559G>T | |
1 | g.244863933C= | CA1231007514 | HNRNPU | c.53G= c.375G= (p.Glu125=) n.560G= c.159G= (p.Glu53=) n.606G= c.75G= (p.Glu25=) n.599G= n.559G= | |
1 | g.244863933C>G | CA1486813 | HNRNPU | c.53G>C c.375G>C (p.Glu125Asp) n.560G>C c.159G>C (p.Glu53Asp) n.606G>C c.75G>C (p.Glu25Asp) n.599G>C n.559G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863933C>T | CA1486812 | HNRNPU | c.53G>A c.375G>A (p.Glu125=) n.560G>A c.159G>A (p.Glu53=) n.606G>A c.75G>A (p.Glu25=) n.599G>A n.559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863933_244863934delinsCT | CA1231007513 | HNRNPU | c.52_53delinsAG c.374_375delinsAG (p.Glu125=) n.559_560delinsAG c.158_159delinsAG (p.Glu53=) n.605_606delinsAG c.74_75delinsAG (p.Glu25=) n.598_599delinsAG n.558_559delinsAG | |
1 | g.244863933_244863934delinsGG | CA916082166 | HNRNPU | c.52_53delinsCC c.374_375delinsCC (p.Glu125Ala) n.559_560delinsCC c.158_159delinsCC (p.Glu53Ala) n.605_606delinsCC c.74_75delinsCC (p.Glu25Ala) n.598_599delinsCC n.558_559delinsCC | ClinVar dbSNP |
1 | g.244863934T>A | CA345497263 | HNRNPU | c.52A>T c.374A>T (p.Glu125Val) n.559A>T c.158A>T (p.Glu53Val) n.605A>T c.74A>T (p.Glu25Val) n.598A>T n.558A>T | |
1 | g.244863934T>C | CA345497264 | HNRNPU | c.52A>G c.374A>G (p.Glu125Gly) n.559A>G c.158A>G (p.Glu53Gly) n.605A>G c.74A>G (p.Glu25Gly) n.598A>G n.558A>G | |
1 | g.244863934T>G | CA1486814 | HNRNPU | c.52A>C c.374A>C (p.Glu125Ala) n.559A>C c.158A>C (p.Glu53Ala) n.605A>C c.74A>C (p.Glu25Ala) n.598A>C n.558A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863934T= | CA1143373646 | HNRNPU | c.52A= c.374A= (p.Glu125=) n.559A= c.158A= (p.Glu53=) n.605A= c.74A= (p.Glu25=) n.598A= n.558A= | |
1 | g.244863935C>A | CA345497265 | HNRNPU | c.51G>T c.373G>T (p.Glu125Ter) n.558G>T c.157G>T (p.Glu53Ter) n.604G>T c.73G>T (p.Glu25Ter) n.597G>T n.557G>T | |
1 | g.244863935C>G | CA345497267 | HNRNPU | c.51G>C c.373G>C (p.Glu125Gln) n.558G>C c.157G>C (p.Glu53Gln) n.604G>C c.73G>C (p.Glu25Gln) n.597G>C n.557G>C | |
1 | g.244863935C>T | CA345497266 | HNRNPU | c.51G>A c.373G>A (p.Glu125Lys) n.558G>A c.157G>A (p.Glu53Lys) n.604G>A c.73G>A (p.Glu25Lys) n.597G>A n.557G>A | |
1 | g.244863936C>A | CA345497268 | HNRNPU | c.50G>T c.372G>T (p.Glu124Asp) n.557G>T c.156G>T (p.Glu52Asp) n.603G>T c.72G>T (p.Glu24Asp) n.596G>T n.556G>T | |
1 | g.244863936C>G | CA345497269 | HNRNPU | c.50G>C c.372G>C (p.Glu124Asp) n.557G>C c.156G>C (p.Glu52Asp) n.603G>C c.72G>C (p.Glu24Asp) n.596G>C n.556G>C | |
1 | g.244863936C>T | CA424403350 | HNRNPU | c.50G>A c.372G>A (p.Glu124=) n.557G>A c.156G>A (p.Glu52=) n.603G>A c.72G>A (p.Glu24=) n.596G>A n.556G>A | |
1 | g.244863937T>A | CA345497270 | HNRNPU | c.49A>T c.371A>T (p.Glu124Val) n.556A>T c.155A>T (p.Glu52Val) n.602A>T c.71A>T (p.Glu24Val) n.595A>T n.555A>T | |
1 | g.244863937T>C | CA345497272 | HNRNPU | c.49A>G c.371A>G (p.Glu124Gly) n.556A>G c.155A>G (p.Glu52Gly) n.602A>G c.71A>G (p.Glu24Gly) n.595A>G n.555A>G | |
1 | g.244863937T>G | CA345497271 | HNRNPU | c.49A>C c.371A>C (p.Glu124Ala) n.556A>C c.155A>C (p.Glu52Ala) n.602A>C c.71A>C (p.Glu24Ala) n.595A>C n.555A>C | |
1 | g.244863938C>A | CA345497273 | HNRNPU | c.48G>T c.370G>T (p.Glu124Ter) n.555G>T c.154G>T (p.Glu52Ter) n.601G>T c.70G>T (p.Glu24Ter) n.594G>T n.554G>T | |
1 | g.244863938C= | CA1231007516 | HNRNPU | c.48G= c.370G= (p.Glu124=) n.555G= c.154G= (p.Glu52=) n.601G= c.70G= (p.Glu24=) n.594G= n.554G= | |
1 | g.244863938C>G | CA345497274 | HNRNPU | c.48G>C c.370G>C (p.Glu124Gln) n.555G>C c.154G>C (p.Glu52Gln) n.601G>C c.70G>C (p.Glu24Gln) n.594G>C n.554G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863938C>T | CA345497275 | HNRNPU | c.48G>A c.370G>A (p.Glu124Lys) n.555G>A c.154G>A (p.Glu52Lys) n.601G>A c.70G>A (p.Glu24Lys) n.594G>A n.554G>A | |
1 | g.244863938_244863980delinsCCTCCTCCATCGGGCCCGAGTCGGCCGCCCCCGCGGCCCCGTT | CA1231007515 | HNRNPU | c.6_48delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG c.328_370delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn110=) n.513_555delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG c.112_154delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn38=) n.559_601delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG c.28_70delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG (p.Asn10=) n.552_594delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG n.512_554delinsAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCGATGGAGGAGG | |
1 | g.244863939C>A | CA345497276 | HNRNPU | c.47G>T c.369G>T (p.Glu123Asp) n.554G>T c.153G>T (p.Glu51Asp) n.600G>T c.69G>T (p.Glu23Asp) n.593G>T n.553G>T | gnomAD v4 |
1 | g.244863939C= | CA1231007517 | HNRNPU | c.47G= c.369G= (p.Glu123=) n.554G= c.153G= (p.Glu51=) n.600G= c.69G= (p.Glu23=) n.593G= n.553G= | |
1 | g.244863939C>G | CA1486816 | HNRNPU | c.47G>C c.369G>C (p.Glu123Asp) n.554G>C c.153G>C (p.Glu51Asp) n.600G>C c.69G>C (p.Glu23Asp) n.593G>C n.553G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863939C>T | CA424403359 | HNRNPU | c.47G>A c.369G>A (p.Glu123=) n.554G>A c.153G>A (p.Glu51=) n.600G>A c.69G>A (p.Glu23=) n.593G>A n.553G>A | COSMIC COSMIC |
1 | g.244863945_244863986del | CA1486815 | HNRNPU | c.328_369del (p.Asn110_Glu123del) n.513_554del c.112_153del (p.Asn38_Glu51del) n.559_600del c.28_69del (p.Asn10_Glu23del) n.552_593del n.512_553del | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863940T>A | CA345497277 | HNRNPU | c.46A>T c.368A>T (p.Glu123Val) n.553A>T c.152A>T (p.Glu51Val) n.599A>T c.68A>T (p.Glu23Val) n.592A>T n.552A>T | |
1 | g.244863940T>C | CA345497278 | HNRNPU | c.46A>G c.368A>G (p.Glu123Gly) n.553A>G c.152A>G (p.Glu51Gly) n.599A>G c.68A>G (p.Glu23Gly) n.592A>G n.552A>G | dbSNP |
1 | g.244863940T>G | CA345497279 | HNRNPU | c.46A>C c.368A>C (p.Glu123Ala) n.553A>C c.152A>C (p.Glu51Ala) n.599A>C c.68A>C (p.Glu23Ala) n.592A>C n.552A>C | |
1 | g.244863941C>A | CA345497280 | HNRNPU | c.45G>T c.367G>T (p.Glu123Ter) n.552G>T c.151G>T (p.Glu51Ter) n.598G>T c.67G>T (p.Glu23Ter) n.591G>T n.551G>T | |
1 | g.244863941C>G | CA345497281 | HNRNPU | c.45G>C c.367G>C (p.Glu123Gln) n.552G>C c.151G>C (p.Glu51Gln) n.598G>C c.67G>C (p.Glu23Gln) n.591G>C n.551G>C | |
1 | g.244863941C>T | CA345497282 | HNRNPU | c.45G>A c.367G>A (p.Glu123Lys) n.552G>A c.151G>A (p.Glu51Lys) n.598G>A c.67G>A (p.Glu23Lys) n.591G>A n.551G>A | |
1 | g.244863942C>A | CA345497283 | HNRNPU | c.44G>T c.366G>T (p.Glu122Asp) n.551G>T c.150G>T (p.Glu50Asp) n.597G>T c.66G>T (p.Glu22Asp) n.590G>T n.550G>T | |
1 | g.244863942C>G | CA345497284 | HNRNPU | c.44G>C c.366G>C (p.Glu122Asp) n.551G>C c.150G>C (p.Glu50Asp) n.597G>C c.66G>C (p.Glu22Asp) n.590G>C n.550G>C | |
1 | g.244863942C>T | CA424403369 | HNRNPU | c.44G>A c.366G>A (p.Glu122=) n.551G>A c.150G>A (p.Glu50=) n.597G>A c.66G>A (p.Glu22=) n.590G>A n.550G>A | |
1 | g.244863943T>A | CA345497285 | HNRNPU | c.43A>T c.365A>T (p.Glu122Val) n.550A>T c.149A>T (p.Glu50Val) n.596A>T c.65A>T (p.Glu22Val) n.589A>T n.549A>T | |
1 | g.244863943T>C | CA345497286 | HNRNPU | c.43A>G c.365A>G (p.Glu122Gly) n.550A>G c.149A>G (p.Glu50Gly) n.596A>G c.65A>G (p.Glu22Gly) n.589A>G n.549A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863943T>G | CA345497287 | HNRNPU | c.43A>C c.365A>C (p.Glu122Ala) n.550A>C c.149A>C (p.Glu50Ala) n.596A>C c.65A>C (p.Glu22Ala) n.589A>C n.549A>C | |
1 | g.244863943T= | CA1231007518 | HNRNPU | c.43A= c.365A= (p.Glu122=) n.550A= c.149A= (p.Glu50=) n.596A= c.65A= (p.Glu22=) n.589A= n.549A= | |
1 | g.244863944C>A | CA345497288 | HNRNPU | c.42G>T c.364G>T (p.Glu122Ter) n.549G>T c.148G>T (p.Glu50Ter) n.595G>T c.64G>T (p.Glu22Ter) n.588G>T n.548G>T | |
1 | g.244863944C= | CA1231007519 | HNRNPU | c.42G= c.364G= (p.Glu122=) n.549G= c.148G= (p.Glu50=) n.595G= c.64G= (p.Glu22=) n.588G= n.548G= | |
1 | g.244863944C>G | CA345497289 | HNRNPU | c.42G>C c.364G>C (p.Glu122Gln) n.549G>C c.148G>C (p.Glu50Gln) n.595G>C c.64G>C (p.Glu22Gln) n.588G>C n.548G>C | dbSNP |
1 | g.244863944C>T | CA345497290 | HNRNPU | c.42G>A c.364G>A (p.Glu122Lys) n.549G>A c.148G>A (p.Glu50Lys) n.595G>A c.64G>A (p.Glu22Lys) n.588G>A n.548G>A | |
1 | g.244863945C>A | CA345497291 | HNRNPU | c.41G>T c.363G>T (p.Met121Ile) n.548G>T c.147G>T (p.Met49Ile) n.594G>T c.63G>T (p.Met21Ile) n.587G>T n.547G>T | |
1 | g.244863945C>G | CA345497292 | HNRNPU | c.41G>C c.363G>C (p.Met121Ile) n.548G>C c.147G>C (p.Met49Ile) n.594G>C c.63G>C (p.Met21Ile) n.587G>C n.547G>C | |
1 | g.244863945C>T | CA345497293 | HNRNPU | c.41G>A c.363G>A (p.Met121Ile) n.548G>A c.147G>A (p.Met49Ile) n.594G>A c.63G>A (p.Met21Ile) n.587G>A n.547G>A | |
1 | g.244863946A>C | CA345497294 | HNRNPU | c.40T>G c.362T>G (p.Met121Arg) n.547T>G c.146T>G (p.Met49Arg) n.593T>G c.62T>G (p.Met21Arg) n.586T>G n.546T>G | gnomAD v4 |
1 | g.244863946A>G | CA345497295 | HNRNPU | c.40T>C c.362T>C (p.Met121Thr) n.547T>C c.146T>C (p.Met49Thr) n.593T>C c.62T>C (p.Met21Thr) n.586T>C n.546T>C | gnomAD v4 |
1 | g.244863946A>T | CA345497296 | HNRNPU | c.40T>A c.362T>A (p.Met121Lys) n.547T>A c.146T>A (p.Met49Lys) n.593T>A c.62T>A (p.Met21Lys) n.586T>A n.546T>A | |
1 | g.244863947T>A | CA345497297 | HNRNPU | c.39A>T c.361A>T (p.Met121Leu) n.546A>T c.145A>T (p.Met49Leu) n.592A>T c.61A>T (p.Met21Leu) n.585A>T n.545A>T | dbSNP gnomAD v4 |
1 | g.244863947T>C | CA345497299 | HNRNPU | c.39A>G c.361A>G (p.Met121Val) n.546A>G c.145A>G (p.Met49Val) n.592A>G c.61A>G (p.Met21Val) n.585A>G n.545A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863947T>G | CA345497298 | HNRNPU | c.39A>C c.361A>C (p.Met121Leu) n.546A>C c.145A>C (p.Met49Leu) n.592A>C c.61A>C (p.Met21Leu) n.585A>C n.545A>C | |
1 | g.244863947T= | CA1231007520 | HNRNPU | c.39A= c.361A= (p.Met121=) n.546A= c.145A= (p.Met49=) n.592A= c.61A= (p.Met21=) n.585A= n.545A= | |
1 | g.244863948C>A | CA424403389 | HNRNPU | c.38G>T c.360G>T (p.Pro120=) n.545G>T c.144G>T (p.Pro48=) n.591G>T c.60G>T (p.Pro20=) n.584G>T n.544G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863948C= | CA1231007521 | HNRNPU | c.38G= c.360G= (p.Pro120=) n.545G= c.144G= (p.Pro48=) n.591G= c.60G= (p.Pro20=) n.584G= n.544G= | |
1 | g.244863948C>G | CA424403391 | HNRNPU | c.38G>C c.360G>C (p.Pro120=) n.545G>C c.144G>C (p.Pro48=) n.591G>C c.60G>C (p.Pro20=) n.584G>C n.544G>C | |
1 | g.244863948C>T | CA424403393 | HNRNPU | c.38G>A c.360G>A (p.Pro120=) n.545G>A c.144G>A (p.Pro48=) n.591G>A c.60G>A (p.Pro20=) n.584G>A n.544G>A | ClinVar |
1 | g.244863949G>A | CA345497300 | HNRNPU | c.37C>T c.359C>T (p.Pro120Leu) n.544C>T c.143C>T (p.Pro48Leu) n.590C>T c.59C>T (p.Pro20Leu) n.583C>T n.543C>T | gnomAD v4 |
1 | g.244863949G>C | CA345497301 | HNRNPU | c.37C>G c.359C>G (p.Pro120Arg) n.544C>G c.143C>G (p.Pro48Arg) n.590C>G c.59C>G (p.Pro20Arg) n.583C>G n.543C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.244863949G= | CA1231007522 | HNRNPU | c.37C= c.359C= (p.Pro120=) n.544C= c.143C= (p.Pro48=) n.590C= c.59C= (p.Pro20=) n.583C= n.543C= | |
1 | g.244863949G>T | CA345497302 | HNRNPU | c.37C>A c.359C>A (p.Pro120Gln) n.544C>A c.143C>A (p.Pro48Gln) n.590C>A c.59C>A (p.Pro20Gln) n.583C>A n.543C>A | |
1 | g.244863950G>A | CA345497303 | HNRNPU | c.36C>T c.358C>T (p.Pro120Ser) n.543C>T c.142C>T (p.Pro48Ser) n.589C>T c.58C>T (p.Pro20Ser) n.582C>T n.542C>T | |
1 | g.244863950G>C | CA345497304 | HNRNPU | c.36C>G c.358C>G (p.Pro120Ala) n.543C>G c.142C>G (p.Pro48Ala) n.589C>G c.58C>G (p.Pro20Ala) n.582C>G n.542C>G | |
1 | g.244863950G>T | CA345497305 | HNRNPU | c.36C>A c.358C>A (p.Pro120Thr) n.543C>A c.142C>A (p.Pro48Thr) n.589C>A c.58C>A (p.Pro20Thr) n.582C>A n.542C>A | gnomAD v4 |
1 | g.244863951G>A | CA424403405 | HNRNPU | c.35C>T c.357C>T (p.Gly119=) n.542C>T c.141C>T (p.Gly47=) n.588C>T c.57C>T (p.Gly19=) n.581C>T n.541C>T | |
1 | g.244863951G>C | CA424403404 | HNRNPU | c.35C>G c.357C>G (p.Gly119=) n.542C>G c.141C>G (p.Gly47=) n.588C>G c.57C>G (p.Gly19=) n.581C>G n.541C>G | |
1 | g.244863951G>T | CA424403403 | HNRNPU | c.35C>A c.357C>A (p.Gly119=) n.542C>A c.141C>A (p.Gly47=) n.588C>A c.57C>A (p.Gly19=) n.581C>A n.541C>A | |
1 | g.244863952C>A | CA345497306 | HNRNPU | c.34G>T c.356G>T (p.Gly119Val) n.541G>T c.140G>T (p.Gly47Val) n.587G>T c.56G>T (p.Gly19Val) n.580G>T n.540G>T | |
1 | g.244863952C>G | CA345497307 | HNRNPU | c.34G>C c.356G>C (p.Gly119Ala) n.541G>C c.140G>C (p.Gly47Ala) n.587G>C c.56G>C (p.Gly19Ala) n.580G>C n.540G>C | |
1 | g.244863952C>T | CA345497308 | HNRNPU | c.34G>A c.356G>A (p.Gly119Asp) n.541G>A c.140G>A (p.Gly47Asp) n.587G>A c.56G>A (p.Gly19Asp) n.580G>A n.540G>A | |
1 | g.244863953C>A | CA345497309 | HNRNPU | c.33G>T c.355G>T (p.Gly119Cys) n.540G>T c.139G>T (p.Gly47Cys) n.586G>T c.55G>T (p.Gly19Cys) n.579G>T n.539G>T | COSMIC COSMIC |
1 | g.244863953C>G | CA345497310 | HNRNPU | c.33G>C c.355G>C (p.Gly119Arg) n.540G>C c.139G>C (p.Gly47Arg) n.586G>C c.55G>C (p.Gly19Arg) n.579G>C n.539G>C | gnomAD v4 COSMIC COSMIC |
1 | g.244863953C>T | CA345497311 | HNRNPU | c.33G>A c.355G>A (p.Gly119Ser) n.540G>A c.139G>A (p.Gly47Ser) n.586G>A c.55G>A (p.Gly19Ser) n.579G>A n.539G>A | ClinVar |
1 | g.244863954C>A | CA1486817 | HNRNPU | c.32G>T c.354G>T (p.Ser118=) n.539G>T c.138G>T (p.Ser46=) n.585G>T c.54G>T (p.Ser18=) n.578G>T n.538G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863954C= | CA1231007523 | HNRNPU | c.32G= c.354G= (p.Ser118=) n.539G= c.138G= (p.Ser46=) n.585G= c.54G= (p.Ser18=) n.578G= n.538G= | |
1 | g.244863954C>G | CA424403419 | HNRNPU | c.32G>C c.354G>C (p.Ser118=) n.539G>C c.138G>C (p.Ser46=) n.585G>C c.54G>C (p.Ser18=) n.578G>C n.538G>C | gnomAD v4 |
1 | g.244863954C>T | CA424403422 | HNRNPU | c.32G>A c.354G>A (p.Ser118=) n.539G>A c.138G>A (p.Ser46=) n.585G>A c.54G>A (p.Ser18=) n.578G>A n.538G>A | |
1 | g.244863955G>A | CA345497312 | HNRNPU | c.31C>T c.353C>T (p.Ser118Leu) n.538C>T c.137C>T (p.Ser46Leu) n.584C>T c.53C>T (p.Ser18Leu) n.577C>T n.537C>T | |
1 | g.244863955G>C | CA345497313 | HNRNPU | c.31C>G c.353C>G (p.Ser118Trp) n.538C>G c.137C>G (p.Ser46Trp) n.584C>G c.53C>G (p.Ser18Trp) n.577C>G n.537C>G | COSMIC COSMIC |
1 | g.244863955G= | CA1231007524 | HNRNPU | c.31C= c.353C= (p.Ser118=) n.538C= c.137C= (p.Ser46=) n.584C= c.53C= (p.Ser18=) n.577C= n.537C= | |
1 | g.244863955G>T | CA16603678 | HNRNPU | c.31C>A c.353C>A (p.Ser118Ter) n.538C>A c.137C>A (p.Ser46Ter) n.584C>A c.53C>A (p.Ser18Ter) n.577C>A n.537C>A | ClinVar dbSNP |
1 | g.244863956_244863973del | CA2573132983 | HNRNPU | c.14_31del c.336_353del (p.Ala113_Ser118del) n.521_538del c.120_137del (p.Ala41_Ser46del) n.567_584del c.36_53del (p.Ala13_Ser18del) n.560_577del n.520_537del | ClinVar dbSNP |
1 | g.244863956A= | CA1146316102 | HNRNPU | c.30T= c.352T= (p.Ser118=) n.537T= c.136T= (p.Ser46=) n.583T= c.52T= (p.Ser18=) n.576T= n.536T= | |
1 | g.244863956A>C | CA345497314 | HNRNPU | c.30T>G c.352T>G (p.Ser118Ala) n.537T>G c.136T>G (p.Ser46Ala) n.583T>G c.52T>G (p.Ser18Ala) n.576T>G n.536T>G | |
1 | g.244863956A>G | CA1486818 | HNRNPU | c.30T>C c.352T>C (p.Ser118Pro) n.537T>C c.136T>C (p.Ser46Pro) n.583T>C c.52T>C (p.Ser18Pro) n.576T>C n.536T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863956A>T | CA345497315 | HNRNPU | c.30T>A c.352T>A (p.Ser118Thr) n.537T>A c.136T>A (p.Ser46Thr) n.583T>A c.52T>A (p.Ser18Thr) n.576T>A n.536T>A | |
1 | g.244863957G>A | CA424403432 | HNRNPU | c.29C>T c.351C>T (p.Asp117=) n.536C>T c.135C>T (p.Asp45=) n.582C>T c.51C>T (p.Asp17=) n.575C>T n.535C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863957G>C | CA345497316 | HNRNPU | c.29C>G c.351C>G (p.Asp117Glu) n.536C>G c.135C>G (p.Asp45Glu) n.582C>G c.51C>G (p.Asp17Glu) n.575C>G n.535C>G | gnomAD v4 |
1 | g.244863957G= | CA1231007525 | HNRNPU | c.29C= c.351C= (p.Asp117=) n.536C= c.135C= (p.Asp45=) n.582C= c.51C= (p.Asp17=) n.575C= n.535C= | |
1 | g.244863957G>T | CA345497317 | HNRNPU | c.29C>A c.351C>A (p.Asp117Glu) n.536C>A c.135C>A (p.Asp45Glu) n.582C>A c.51C>A (p.Asp17Glu) n.575C>A n.535C>A | |
1 | g.244863958_244863973del | CA2580063540 | HNRNPU | c.14_29del c.336_351del (p.Ala113ArgfsTer?) n.521_536del c.120_135del (p.Ala41ArgfsTer?) n.567_582del c.36_51del (p.Ala13ArgfsTer?) n.560_575del n.520_535del | ClinVar |
1 | g.244863958T>A | CA345497318 | HNRNPU | c.28A>T c.350A>T (p.Asp117Val) n.535A>T c.134A>T (p.Asp45Val) n.581A>T c.50A>T (p.Asp17Val) n.574A>T n.534A>T | |
1 | g.244863958T>C | CA1486819 | HNRNPU | c.28A>G c.350A>G (p.Asp117Gly) n.535A>G c.134A>G (p.Asp45Gly) n.581A>G c.50A>G (p.Asp17Gly) n.574A>G n.534A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863958T>G | CA345497319 | HNRNPU | c.28A>C c.350A>C (p.Asp117Ala) n.535A>C c.134A>C (p.Asp45Ala) n.581A>C c.50A>C (p.Asp17Ala) n.574A>C n.534A>C | dbSNP gnomAD v2 |
1 | g.244863958T= | CA1231007526 | HNRNPU | c.28A= c.350A= (p.Asp117=) n.535A= c.134A= (p.Asp45=) n.581A= c.50A= (p.Asp17=) n.574A= n.534A= | |
1 | g.244863959C>A | CA345497320 | HNRNPU | c.27G>T c.349G>T (p.Asp117Tyr) n.534G>T c.133G>T (p.Asp45Tyr) n.580G>T c.49G>T (p.Asp17Tyr) n.573G>T n.533G>T | gnomAD v4 |
1 | g.244863959C= | CA1231007527 | HNRNPU | c.27G= c.349G= (p.Asp117=) n.534G= c.133G= (p.Asp45=) n.580G= c.49G= (p.Asp17=) n.573G= n.533G= | |
1 | g.244863959C>G | CA1486820 | HNRNPU | c.27G>C c.349G>C (p.Asp117His) n.534G>C c.133G>C (p.Asp45His) n.580G>C c.49G>C (p.Asp17His) n.573G>C n.533G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863959C>T | CA345497321 | HNRNPU | c.27G>A c.349G>A (p.Asp117Asn) n.534G>A c.133G>A (p.Asp45Asn) n.580G>A c.49G>A (p.Asp17Asn) n.573G>A n.533G>A | gnomAD v4 |
1 | g.244863960G>A | CA424403438 | HNRNPU | c.26C>T c.348C>T (p.Ala116=) n.533C>T c.132C>T (p.Ala44=) n.579C>T c.48C>T (p.Ala16=) n.572C>T n.532C>T | gnomAD v4 |
1 | g.244863960G>C | CA424403439 | HNRNPU | c.26C>G c.348C>G (p.Ala116=) n.533C>G c.132C>G (p.Ala44=) n.579C>G c.48C>G (p.Ala16=) n.572C>G n.532C>G | |
1 | g.244863960G>T | CA424403440 | HNRNPU | c.26C>A c.348C>A (p.Ala116=) n.533C>A c.132C>A (p.Ala44=) n.579C>A c.48C>A (p.Ala16=) n.572C>A n.532C>A | |
1 | g.244863961G>A | CA345497324 | HNRNPU | c.25C>T c.347C>T (p.Ala116Val) n.532C>T c.131C>T (p.Ala44Val) n.578C>T c.47C>T (p.Ala16Val) n.571C>T n.531C>T | ClinVar dbSNP |
1 | g.244863961G>C | CA345497323 | HNRNPU | c.25C>G c.347C>G (p.Ala116Gly) n.532C>G c.131C>G (p.Ala44Gly) n.578C>G c.47C>G (p.Ala16Gly) n.571C>G n.531C>G | gnomAD v4 |
1 | g.244863961G= | CA1231007528 | HNRNPU | c.25C= c.347C= (p.Ala116=) n.532C= c.131C= (p.Ala44=) n.578C= c.47C= (p.Ala16=) n.571C= n.531C= | |
1 | g.244863961G>T | CA345497322 | HNRNPU | c.25C>A c.347C>A (p.Ala116Asp) n.532C>A c.131C>A (p.Ala44Asp) n.578C>A c.47C>A (p.Ala16Asp) n.571C>A n.531C>A | |
1 | g.244863962C>A | CA345497327 | HNRNPU | c.24G>T c.346G>T (p.Ala116Ser) n.531G>T c.130G>T (p.Ala44Ser) n.577G>T c.46G>T (p.Ala16Ser) n.570G>T n.530G>T | |
1 | g.244863962C>G | CA345497325 | HNRNPU | c.24G>C c.346G>C (p.Ala116Pro) n.531G>C c.130G>C (p.Ala44Pro) n.577G>C c.46G>C (p.Ala16Pro) n.570G>C n.530G>C | dbSNP COSMIC COSMIC |
1 | g.244863962C>T | CA345497326 | HNRNPU | c.24G>A c.346G>A (p.Ala116Thr) n.531G>A c.130G>A (p.Ala44Thr) n.577G>A c.46G>A (p.Ala16Thr) n.570G>A n.530G>A | |
1 | g.244863963C>A | CA424403444 | HNRNPU | c.23G>T c.345G>T (p.Ala115=) n.530G>T c.129G>T (p.Ala43=) n.576G>T c.45G>T (p.Ala15=) n.569G>T n.529G>T | |
1 | g.244863963C>G | CA424403445 | HNRNPU | c.23G>C c.345G>C (p.Ala115=) n.530G>C c.129G>C (p.Ala43=) n.576G>C c.45G>C (p.Ala15=) n.569G>C n.529G>C | |
1 | g.244863963C>T | CA424403448 | HNRNPU | c.23G>A c.345G>A (p.Ala115=) n.530G>A c.129G>A (p.Ala43=) n.576G>A c.45G>A (p.Ala15=) n.569G>A n.529G>A | |
1 | g.244863964G>A | CA345497328 | HNRNPU | c.22C>T c.344C>T (p.Ala115Val) n.529C>T c.128C>T (p.Ala43Val) n.575C>T c.44C>T (p.Ala15Val) n.568C>T n.528C>T | dbSNP |
1 | g.244863964G>C | CA345497329 | HNRNPU | c.22C>G c.344C>G (p.Ala115Gly) n.529C>G c.128C>G (p.Ala43Gly) n.575C>G c.44C>G (p.Ala15Gly) n.568C>G n.528C>G | |
1 | g.244863964G= | CA1231007529 | HNRNPU | c.22C= c.344C= (p.Ala115=) n.529C= c.128C= (p.Ala43=) n.575C= c.44C= (p.Ala15=) n.568C= n.528C= | |
1 | g.244863964G>T | CA345497330 | HNRNPU | c.22C>A c.344C>A (p.Ala115Glu) n.529C>A c.128C>A (p.Ala43Glu) n.575C>A c.44C>A (p.Ala15Glu) n.568C>A n.528C>A | |
1 | g.244863965C>A | CA345497333 | HNRNPU | c.21G>T c.343G>T (p.Ala115Ser) n.528G>T c.127G>T (p.Ala43Ser) n.574G>T c.43G>T (p.Ala15Ser) n.567G>T n.527G>T | |
1 | g.244863965C>G | CA345497332 | HNRNPU | c.21G>C c.343G>C (p.Ala115Pro) n.528G>C c.127G>C (p.Ala43Pro) n.574G>C c.43G>C (p.Ala15Pro) n.567G>C n.527G>C | |
1 | g.244863965C>T | CA345497331 | HNRNPU | c.21G>A c.343G>A (p.Ala115Thr) n.528G>A c.127G>A (p.Ala43Thr) n.574G>A c.43G>A (p.Ala15Thr) n.567G>A n.527G>A | |
1 | g.244863969del | CA2748454221 | HNRNPU | c.21del c.343del (p.Ala115ArgfsTer?) n.528del c.127del (p.Ala43ArgfsTer?) n.574del c.43del (p.Ala15ArgfsTer?) n.567del n.527del | |
1 | g.244863966C>A | CA424403453 | HNRNPU | c.20G>T c.342G>T (p.Gly114=) n.527G>T c.126G>T (p.Gly42=) n.573G>T c.42G>T (p.Gly14=) n.566G>T n.526G>T | |
1 | g.244863966C>G | CA424403454 | HNRNPU | c.20G>C c.342G>C (p.Gly114=) n.527G>C c.126G>C (p.Gly42=) n.573G>C c.42G>C (p.Gly14=) n.566G>C n.526G>C | |
1 | g.244863966C>T | CA424403455 | HNRNPU | c.20G>A c.342G>A (p.Gly114=) n.527G>A c.126G>A (p.Gly42=) n.573G>A c.42G>A (p.Gly14=) n.566G>A n.526G>A | |
1 | g.244863967C>A | CA345497334 | HNRNPU | c.19G>T c.341G>T (p.Gly114Val) n.526G>T c.125G>T (p.Gly42Val) n.572G>T c.41G>T (p.Gly14Val) n.565G>T n.525G>T | |
1 | g.244863967C>G | CA345497335 | HNRNPU | c.19G>C c.341G>C (p.Gly114Ala) n.526G>C c.125G>C (p.Gly42Ala) n.572G>C c.41G>C (p.Gly14Ala) n.565G>C n.525G>C | |
1 | g.244863967C>T | CA345497336 | HNRNPU | c.19G>A c.341G>A (p.Gly114Glu) n.526G>A c.125G>A (p.Gly42Glu) n.572G>A c.41G>A (p.Gly14Glu) n.565G>A n.525G>A | |
1 | g.244863968C>A | CA345497337 | HNRNPU | c.18G>T c.340G>T (p.Gly114Trp) n.525G>T c.124G>T (p.Gly42Trp) n.571G>T c.40G>T (p.Gly14Trp) n.564G>T n.524G>T | |
1 | g.244863968C>G | CA345497338 | HNRNPU | c.18G>C c.340G>C (p.Gly114Arg) n.525G>C c.124G>C (p.Gly42Arg) n.571G>C c.40G>C (p.Gly14Arg) n.564G>C n.524G>C | |
1 | g.244863968C>T | CA345497339 | HNRNPU | c.18G>A c.340G>A (p.Gly114Arg) n.525G>A c.124G>A (p.Gly42Arg) n.571G>A c.40G>A (p.Gly14Arg) n.564G>A n.524G>A | gnomAD v4 |
1 | g.244863969C>A | CA424403460 | HNRNPU | c.17G>T c.339G>T (p.Ala113=) n.524G>T c.123G>T (p.Ala41=) n.570G>T c.39G>T (p.Ala13=) n.563G>T n.523G>T | |
1 | g.244863969C= | CA1231007530 | HNRNPU | c.17G= c.339G= (p.Ala113=) n.524G= c.123G= (p.Ala41=) n.570G= c.39G= (p.Ala13=) n.563G= n.523G= | |
1 | g.244863969C>G | CA424403461 | HNRNPU | c.17G>C c.339G>C (p.Ala113=) n.524G>C c.123G>C (p.Ala41=) n.570G>C c.39G>C (p.Ala13=) n.563G>C n.523G>C | gnomAD v4 |
1 | g.244863969C>T | CA424403462 | HNRNPU | c.17G>A c.339G>A (p.Ala113=) n.524G>A c.123G>A (p.Ala41=) n.570G>A c.39G>A (p.Ala13=) n.563G>A n.523G>A | dbSNP |
1 | g.244863970G>A | CA345497342 | HNRNPU | c.16C>T c.338C>T (p.Ala113Val) n.523C>T c.122C>T (p.Ala41Val) n.569C>T c.38C>T (p.Ala13Val) n.562C>T n.522C>T | |
1 | g.244863970G>C | CA345497340 | HNRNPU | c.16C>G c.338C>G (p.Ala113Gly) n.523C>G c.122C>G (p.Ala41Gly) n.569C>G c.38C>G (p.Ala13Gly) n.562C>G n.522C>G | |
1 | g.244863970G>T | CA345497341 | HNRNPU | c.16C>A c.338C>A (p.Ala113Glu) n.523C>A c.122C>A (p.Ala41Glu) n.569C>A c.38C>A (p.Ala13Glu) n.562C>A n.522C>A | |
1 | g.244863971C>A | CA345497343 | HNRNPU | c.15G>T c.337G>T (p.Ala113Ser) n.522G>T c.121G>T (p.Ala41Ser) n.568G>T c.37G>T (p.Ala13Ser) n.561G>T n.521G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863971C= | CA1231007531 | HNRNPU | c.15G= c.337G= (p.Ala113=) n.522G= c.121G= (p.Ala41=) n.568G= c.37G= (p.Ala13=) n.561G= n.521G= | |
1 | g.244863971C>G | CA345497344 | HNRNPU | c.15G>C c.337G>C (p.Ala113Pro) n.522G>C c.121G>C (p.Ala41Pro) n.568G>C c.37G>C (p.Ala13Pro) n.561G>C n.521G>C | |
1 | g.244863971C>T | CA345497345 | HNRNPU | c.15G>A c.337G>A (p.Ala113Thr) n.522G>A c.121G>A (p.Ala41Thr) n.568G>A c.37G>A (p.Ala13Thr) n.561G>A n.521G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863972G>A | CA1486821 | HNRNPU | c.14C>T c.336C>T (p.Ala112=) n.521C>T c.120C>T (p.Ala40=) n.567C>T c.36C>T (p.Ala12=) n.560C>T n.520C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863972G>C | CA424403466 | HNRNPU | c.14C>G c.336C>G (p.Ala112=) n.521C>G c.120C>G (p.Ala40=) n.567C>G c.36C>G (p.Ala12=) n.560C>G n.520C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863972G= | CA1231007532 | HNRNPU | c.14C= c.336C= (p.Ala112=) n.521C= c.120C= (p.Ala40=) n.567C= c.36C= (p.Ala12=) n.560C= n.520C= | |
1 | g.244863972G>T | CA424403465 | HNRNPU | c.14C>A c.336C>A (p.Ala112=) n.521C>A c.120C>A (p.Ala40=) n.567C>A c.36C>A (p.Ala12=) n.560C>A n.520C>A | |
1 | g.244863972_244863973insC | CA2586968604 | HNRNPU | c.13_14insG c.335_336insG (p.Ala113ArgfsTer?) n.520_521insG c.119_120insG (p.Ala41ArgfsTer?) n.566_567insG c.35_36insG (p.Ala13ArgfsTer?) n.559_560insG n.519_520insG | |
1 | g.244863973G>A | CA345497346 | HNRNPU | c.13C>T c.335C>T (p.Ala112Val) n.520C>T c.119C>T (p.Ala40Val) n.566C>T c.35C>T (p.Ala12Val) n.559C>T n.519C>T | |
1 | g.244863973G>C | CA345497347 | HNRNPU | c.13C>G c.335C>G (p.Ala112Gly) n.520C>G c.119C>G (p.Ala40Gly) n.566C>G c.35C>G (p.Ala12Gly) n.559C>G n.519C>G | |
1 | g.244863973G= | CA1231007533 | HNRNPU | c.13C= c.335C= (p.Ala112=) n.520C= c.119C= (p.Ala40=) n.566C= c.35C= (p.Ala12=) n.559C= n.519C= | |
1 | g.244863973G>T | CA345497348 | HNRNPU | c.13C>A c.335C>A (p.Ala112Asp) n.520C>A c.119C>A (p.Ala40Asp) n.566C>A c.35C>A (p.Ala12Asp) n.559C>A n.519C>A | dbSNP gnomAD v4 |
1 | g.244863974C>A | CA345497349 | HNRNPU | c.12G>T c.334G>T (p.Ala112Ser) n.519G>T c.118G>T (p.Ala40Ser) n.565G>T c.34G>T (p.Ala12Ser) n.558G>T n.518G>T | |
1 | g.244863974C= | CA1231007534 | HNRNPU | c.12G= c.334G= (p.Ala112=) n.519G= c.118G= (p.Ala40=) n.565G= c.34G= (p.Ala12=) n.558G= n.518G= | |
1 | g.244863974C>G | CA345497350 | HNRNPU | c.12G>C c.334G>C (p.Ala112Pro) n.519G>C c.118G>C (p.Ala40Pro) n.565G>C c.34G>C (p.Ala12Pro) n.558G>C n.518G>C | |
1 | g.244863974C>T | CA345497351 | HNRNPU | c.12G>A c.334G>A (p.Ala112Thr) n.519G>A c.118G>A (p.Ala40Thr) n.565G>A c.34G>A (p.Ala12Thr) n.558G>A n.518G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244863977dup | CA2586968605 | HNRNPU | c.12dup c.334dup (p.Ala112GlyfsTer?) n.519dup c.118dup (p.Ala40GlyfsTer?) n.565dup c.34dup (p.Ala12GlyfsTer?) n.558dup n.518dup | |
1 | g.244863975C>A | CA424403471 | HNRNPU | c.11G>T c.333G>T (p.Gly111=) n.518G>T c.117G>T (p.Gly39=) n.564G>T c.33G>T (p.Gly11=) n.557G>T n.517G>T | |
1 | g.244863975C>G | CA424403472 | HNRNPU | c.11G>C c.333G>C (p.Gly111=) n.518G>C c.117G>C (p.Gly39=) n.564G>C c.33G>C (p.Gly11=) n.557G>C n.517G>C | gnomAD v4 |
1 | g.244863975C>T | CA424403473 | HNRNPU | c.11G>A c.333G>A (p.Gly111=) n.518G>A c.117G>A (p.Gly39=) n.564G>A c.33G>A (p.Gly11=) n.557G>A n.517G>A | |
1 | g.244863976C>A | CA345497352 | HNRNPU | c.10G>T c.332G>T (p.Gly111Val) n.517G>T c.116G>T (p.Gly39Val) n.563G>T c.32G>T (p.Gly11Val) n.556G>T n.516G>T | |
1 | g.244863976C>G | CA345497353 | HNRNPU | c.10G>C c.332G>C (p.Gly111Ala) n.517G>C c.116G>C (p.Gly39Ala) n.563G>C c.32G>C (p.Gly11Ala) n.556G>C n.516G>C | ClinVar |
1 | g.244863976C>T | CA345497354 | HNRNPU | c.10G>A c.332G>A (p.Gly111Glu) n.517G>A c.116G>A (p.Gly39Glu) n.563G>A c.32G>A (p.Gly11Glu) n.556G>A n.516G>A | |
1 | g.244863977C>A | CA345497355 | HNRNPU | c.9G>T c.331G>T (p.Gly111Trp) n.516G>T c.115G>T (p.Gly39Trp) n.562G>T c.31G>T (p.Gly11Trp) n.555G>T n.515G>T | |
1 | g.244863977C= | CA1231007535 | HNRNPU | c.9G= c.331G= (p.Gly111=) n.516G= c.115G= (p.Gly39=) n.562G= c.31G= (p.Gly11=) n.555G= n.515G= | |
1 | g.244863977C>G | CA345497357 | HNRNPU | c.9G>C c.331G>C (p.Gly111Arg) n.516G>C c.115G>C (p.Gly39Arg) n.562G>C c.31G>C (p.Gly11Arg) n.555G>C n.515G>C | dbSNP |
1 | g.244863977C>T | CA345497356 | HNRNPU | c.9G>A c.331G>A (p.Gly111Arg) n.516G>A c.115G>A (p.Gly39Arg) n.562G>A c.31G>A (p.Gly11Arg) n.555G>A n.515G>A | |
1 | g.244863978G>A | CA424403480 | HNRNPU | c.8C>T c.330C>T (p.Asn110=) n.515C>T c.114C>T (p.Asn38=) n.561C>T c.30C>T (p.Asn10=) n.554C>T n.514C>T | |
1 | g.244863978G>C | CA345497358 | HNRNPU | c.8C>G c.330C>G (p.Asn110Lys) n.515C>G c.114C>G (p.Asn38Lys) n.561C>G c.30C>G (p.Asn10Lys) n.554C>G n.514C>G | gnomAD v4 |
1 | g.244863978G>T | CA345497359 | HNRNPU | c.8C>A c.330C>A (p.Asn110Lys) n.515C>A c.114C>A (p.Asn38Lys) n.561C>A c.30C>A (p.Asn10Lys) n.554C>A n.514C>A | |
1 | g.244863979T>A | CA345497360 | HNRNPU | c.7A>T c.329A>T (p.Asn110Ile) n.514A>T c.113A>T (p.Asn38Ile) n.560A>T c.29A>T (p.Asn10Ile) n.553A>T n.513A>T | |
1 | g.244863979T>C | CA345497361 | HNRNPU | c.7A>G c.329A>G (p.Asn110Ser) n.514A>G c.113A>G (p.Asn38Ser) n.560A>G c.29A>G (p.Asn10Ser) n.553A>G n.513A>G | |
1 | g.244863979T>G | CA345497362 | HNRNPU | c.7A>C c.329A>C (p.Asn110Thr) n.514A>C c.113A>C (p.Asn38Thr) n.560A>C c.29A>C (p.Asn10Thr) n.553A>C n.513A>C | |
1 | g.244863980T>A | CA345497363 | HNRNPU | c.6A>T c.328A>T (p.Asn110Tyr) n.513A>T c.112A>T (p.Asn38Tyr) n.559A>T c.28A>T (p.Asn10Tyr) n.552A>T n.512A>T | gnomAD v4 |
1 | g.244863980T>C | CA345497364 | HNRNPU | c.6A>G c.328A>G (p.Asn110Asp) n.513A>G c.112A>G (p.Asn38Asp) n.559A>G c.28A>G (p.Asn10Asp) n.552A>G n.512A>G | |
1 | g.244863980T>G | CA345497365 | HNRNPU | c.6A>C c.328A>C (p.Asn110His) n.513A>C c.112A>C (p.Asn38His) n.559A>C c.28A>C (p.Asn10His) n.552A>C n.512A>C | |
1 | g.244863981C>A | CA345497366 | HNRNPU | c.5G>T c.327G>T (p.Glu109Asp) n.512G>T c.111G>T (p.Glu37Asp) n.558G>T c.27G>T (p.Glu9Asp) n.551G>T n.511G>T | |
1 | g.244863981C>G | CA345497367 | HNRNPU | c.5G>C c.327G>C (p.Glu109Asp) n.512G>C c.111G>C (p.Glu37Asp) n.558G>C c.27G>C (p.Glu9Asp) n.551G>C n.511G>C | |
1 | g.244863981C>T | CA424403483 | HNRNPU | c.5G>A c.327G>A (p.Glu109=) n.512G>A c.111G>A (p.Glu37=) n.558G>A c.27G>A (p.Glu9=) n.551G>A n.511G>A | |
1 | g.244863984_244863986del | CA2651343582 | HNRNPU | c.325_327del (p.Glu109del) n.510_512del c.109_111del (p.Glu37del) n.556_558del c.25_27del (p.Glu9del) n.549_551del n.509_511del | gnomAD v4 |
1 | g.244863982T>A | CA345497368 | HNRNPU | c.4A>T c.326A>T (p.Glu109Val) n.511A>T c.110A>T (p.Glu37Val) n.557A>T c.26A>T (p.Glu9Val) n.550A>T n.510A>T | |
1 | g.244863982T>C | CA345497369 | HNRNPU | c.4A>G c.326A>G (p.Glu109Gly) n.511A>G c.110A>G (p.Glu37Gly) n.557A>G c.26A>G (p.Glu9Gly) n.550A>G n.510A>G | |
1 | g.244863982T>G | CA345497370 | HNRNPU | c.4A>C c.326A>C (p.Glu109Ala) n.511A>C c.110A>C (p.Glu37Ala) n.557A>C c.26A>C (p.Glu9Ala) n.550A>C n.510A>C | |
1 | g.244863983C>A | CA345497371 | HNRNPU | c.3G>T c.325G>T (p.Glu109Ter) n.510G>T c.109G>T (p.Glu37Ter) n.556G>T c.25G>T (p.Glu9Ter) n.549G>T n.509G>T | ClinVar dbSNP |
1 | g.244863983C= | CA1231007536 | HNRNPU | c.3G= c.325G= (p.Glu109=) n.510G= c.109G= (p.Glu37=) n.556G= c.25G= (p.Glu9=) n.549G= n.509G= | |
1 | g.244863983C>G | CA345497373 | HNRNPU | c.3G>C c.325G>C (p.Glu109Gln) n.510G>C c.109G>C (p.Glu37Gln) n.556G>C c.25G>C (p.Glu9Gln) n.549G>C n.509G>C | ClinVar |
1 | g.244863983C>T | CA345497372 | HNRNPU | c.3G>A c.325G>A (p.Glu109Lys) n.510G>A c.109G>A (p.Glu37Lys) n.556G>A c.25G>A (p.Glu9Lys) n.549G>A n.509G>A | dbSNP |
1 | g.244863984C>A | CA345497374 | HNRNPU | c.2G>T c.324G>T (p.Glu108Asp) n.509G>T c.108G>T (p.Glu36Asp) n.555G>T c.24G>T (p.Glu8Asp) n.548G>T n.508G>T | |
1 | g.244863984C>G | CA345497375 | HNRNPU | c.2G>C c.324G>C (p.Glu108Asp) n.509G>C c.108G>C (p.Glu36Asp) n.555G>C c.24G>C (p.Glu8Asp) n.548G>C n.508G>C | |
1 | g.244863984C>T | CA424403487 | HNRNPU | c.2G>A c.324G>A (p.Glu108=) n.509G>A c.108G>A (p.Glu36=) n.555G>A c.24G>A (p.Glu8=) n.548G>A n.508G>A | ClinVar gnomAD v4 |
1 | g.244863985T>A | CA345497376 | HNRNPU | c.1A>T c.323A>T (p.Glu108Val) n.508A>T c.107A>T (p.Glu36Val) n.554A>T c.23A>T (p.Glu8Val) n.547A>T n.507A>T | |
1 | g.244863985T>C | CA345497377 | HNRNPU | c.1A>G c.323A>G (p.Glu108Gly) n.508A>G c.107A>G (p.Glu36Gly) n.554A>G c.23A>G (p.Glu8Gly) n.547A>G n.507A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863985T>G | CA345497378 | HNRNPU | c.1A>C c.323A>C (p.Glu108Ala) n.508A>C c.107A>C (p.Glu36Ala) n.554A>C c.23A>C (p.Glu8Ala) n.547A>C n.507A>C | |
1 | g.244863985T= | CA1231007538 | HNRNPU | c.1A= c.323A= (p.Glu108=) n.508A= c.107A= (p.Glu36=) n.554A= c.23A= (p.Glu8=) n.547A= n.507A= | |
1 | g.244863985_244863992delinsTCTCCTAG | CA1231007537 | HNRNPU | c.316_323delinsCTAGGAGA (p.Leu106=) n.501_508delinsCTAGGAGA c.100_107delinsCTAGGAGA (p.Leu34=) n.547_554delinsCTAGGAGA c.16_23delinsCTAGGAGA (p.Leu6=) n.540_547delinsCTAGGAGA n.500_507delinsCTAGGAGA | |
1 | g.244863986C>A | CA345497379 | HNRNPU | c.322G>T (p.Glu108Ter) n.507G>T c.106G>T (p.Glu36Ter) n.553G>T c.22G>T (p.Glu8Ter) n.546G>T n.506G>T | |
1 | g.244863986C>G | CA345497380 | HNRNPU | c.322G>C (p.Glu108Gln) n.507G>C c.106G>C (p.Glu36Gln) n.553G>C c.22G>C (p.Glu8Gln) n.546G>C n.506G>C | gnomAD v4 |
1 | g.244863986C>T | CA345497381 | HNRNPU | c.322G>A (p.Glu108Lys) n.507G>A c.106G>A (p.Glu36Lys) n.553G>A c.22G>A (p.Glu8Lys) n.546G>A n.506G>A | gnomAD v4 |
1 | g.244863990_244863996del | CA658657006 | HNRNPU | c.316_322del (p.Leu106ArgfsTer?) n.501_507del c.100_106del (p.Leu34ArgfsTer?) n.547_553del c.16_22del (p.Leu6ArgfsTer?) n.540_546del n.500_506del | ClinVar dbSNP |
1 | g.244863987T>A | CA424403489 | HNRNPU | c.321A>T (p.Gly107=) n.506A>T c.105A>T (p.Gly35=) n.552A>T c.21A>T (p.Gly7=) n.545A>T n.505A>T | |
1 | g.244863987T>C | CA424403490 | HNRNPU | c.321A>G (p.Gly107=) n.506A>G c.105A>G (p.Gly35=) n.552A>G c.21A>G (p.Gly7=) n.545A>G n.505A>G | |
1 | g.244863987T>G | CA424403491 | HNRNPU | c.321A>C (p.Gly107=) n.506A>C c.105A>C (p.Gly35=) n.552A>C c.21A>C (p.Gly7=) n.545A>C n.505A>C | |
1 | g.244863988C>A | CA345497382 | HNRNPU | c.320G>T (p.Gly107Val) n.505G>T c.104G>T (p.Gly35Val) n.551G>T c.20G>T (p.Gly7Val) n.544G>T n.504G>T | |
1 | g.244863988C>G | CA345497383 | HNRNPU | c.320G>C (p.Gly107Ala) n.505G>C c.104G>C (p.Gly35Ala) n.551G>C c.20G>C (p.Gly7Ala) n.544G>C n.504G>C | gnomAD v4 |
1 | g.244863988C>T | CA345497384 | HNRNPU | c.320G>A (p.Gly107Glu) n.505G>A c.104G>A (p.Gly35Glu) n.551G>A c.20G>A (p.Gly7Glu) n.544G>A n.504G>A | gnomAD v4 |
1 | g.244863989C>A | CA345497387 | HNRNPU | c.319G>T (p.Gly107Ter) n.504G>T c.103G>T (p.Gly35Ter) n.550G>T c.19G>T (p.Gly7Ter) n.543G>T n.503G>T | |
1 | g.244863989C>G | CA345497386 | HNRNPU | c.319G>C (p.Gly107Arg) n.504G>C c.103G>C (p.Gly35Arg) n.550G>C c.19G>C (p.Gly7Arg) n.543G>C n.503G>C | |
1 | g.244863989C>T | CA345497385 | HNRNPU | c.319G>A (p.Gly107Arg) n.504G>A c.103G>A (p.Gly35Arg) n.550G>A c.19G>A (p.Gly7Arg) n.543G>A n.503G>A | |
1 | g.244863989_244863991dup | CA2651343593 | HNRNPU | c.317_319dup (p.Leu106_Gly107insVal) n.502_504dup c.101_103dup (p.Leu34_Gly35insVal) n.548_550dup c.17_19dup (p.Leu6_Gly7insVal) n.541_543dup n.501_503dup | gnomAD v4 |
1 | g.244863990T>A | CA424403495 | HNRNPU | c.318A>T (p.Leu106=) n.503A>T c.102A>T (p.Leu34=) n.549A>T c.18A>T (p.Leu6=) n.542A>T n.502A>T | |
1 | g.244863990T>C | CA40505210 | HNRNPU | c.318A>G (p.Leu106=) n.503A>G c.102A>G (p.Leu34=) n.549A>G c.18A>G (p.Leu6=) n.542A>G n.502A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863990T>G | CA424403496 | HNRNPU | c.318A>C (p.Leu106=) n.503A>C c.102A>C (p.Leu34=) n.549A>C c.18A>C (p.Leu6=) n.542A>C n.502A>C | |
1 | g.244863990T= | CA1231007539 | HNRNPU | c.318A= (p.Leu106=) n.503A= c.102A= (p.Leu34=) n.549A= c.18A= (p.Leu6=) n.542A= n.502A= | |
1 | g.244863991A= | CA1143642369 | HNRNPU | c.317T= (p.Leu106=) n.502T= c.101T= (p.Leu34=) n.548T= c.17T= (p.Leu6=) n.541T= n.501T= | |
1 | g.244863991A>C | CA345497388 | HNRNPU | c.317T>G (p.Leu106Arg) n.502T>G c.101T>G (p.Leu34Arg) n.548T>G c.17T>G (p.Leu6Arg) n.541T>G n.501T>G | |
1 | g.244863991A>G | CA1486822 | HNRNPU | c.317T>C (p.Leu106Pro) n.502T>C c.101T>C (p.Leu34Pro) n.548T>C c.17T>C (p.Leu6Pro) n.541T>C n.501T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863991A>T | CA345497389 | HNRNPU | c.317T>A (p.Leu106Gln) n.502T>A c.101T>A (p.Leu34Gln) n.548T>A c.17T>A (p.Leu6Gln) n.541T>A n.501T>A | |
1 | g.244863992G>A | CA1486823 | HNRNPU | c.316C>T (p.Leu106=) n.501C>T c.100C>T (p.Leu34=) n.547C>T c.16C>T (p.Leu6=) n.540C>T n.500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863992G>C | CA345497390 | HNRNPU | c.316C>G (p.Leu106Val) n.501C>G c.100C>G (p.Leu34Val) n.547C>G c.16C>G (p.Leu6Val) n.540C>G n.500C>G | ClinVar |
1 | g.244863992G= | CA1231007540 | HNRNPU | c.316C= (p.Leu106=) n.501C= c.100C= (p.Leu34=) n.547C= c.16C= (p.Leu6=) n.540C= n.500C= | |
1 | g.244863992G>T | CA345497391 | HNRNPU | c.316C>A (p.Leu106Ile) n.501C>A c.100C>A (p.Leu34Ile) n.547C>A c.16C>A (p.Leu6Ile) n.540C>A n.500C>A | |
1 | g.244863993C>A | CA1486824 | HNRNPU | c.315G>T (p.Glu105Asp) n.500G>T c.99G>T (p.Glu33Asp) n.546G>T c.15G>T (p.Glu5Asp) n.539G>T n.499G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244863993C= | CA1149104498 | HNRNPU | c.315G= (p.Glu105=) n.500G= c.99G= (p.Glu33=) n.546G= c.15G= (p.Glu5=) n.539G= n.499G= | |
1 | g.244863993C>G | CA345497392 | HNRNPU | c.315G>C (p.Glu105Asp) n.500G>C c.99G>C (p.Glu33Asp) n.546G>C c.15G>C (p.Glu5Asp) n.539G>C n.499G>C | ClinVar gnomAD v4 |
1 | g.244863993C>T | CA424403504 | HNRNPU | c.315G>A (p.Glu105=) n.500G>A c.99G>A (p.Glu33=) n.546G>A c.15G>A (p.Glu5=) n.539G>A n.499G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244863994T>A | CA345497395 | HNRNPU | c.314A>T (p.Glu105Val) n.499A>T c.98A>T (p.Glu33Val) n.545A>T c.14A>T (p.Glu5Val) n.538A>T n.498A>T | |
1 | g.244863994T>C | CA345497394 | HNRNPU | c.314A>G (p.Glu105Gly) n.499A>G c.98A>G (p.Glu33Gly) n.545A>G c.14A>G (p.Glu5Gly) n.538A>G n.498A>G | |
1 | g.244863994T>G | CA345497393 | HNRNPU | c.314A>C (p.Glu105Ala) n.499A>C c.98A>C (p.Glu33Ala) n.545A>C c.14A>C (p.Glu5Ala) n.538A>C n.498A>C | |
1 | g.244863995C>A | CA345497396 | HNRNPU | c.313G>T (p.Glu105Ter) n.498G>T c.97G>T (p.Glu33Ter) n.544G>T c.13G>T (p.Glu5Ter) n.537G>T n.497G>T | |
1 | g.244863995C>G | CA345497397 | HNRNPU | c.313G>C (p.Glu105Gln) n.498G>C c.97G>C (p.Glu33Gln) n.544G>C c.13G>C (p.Glu5Gln) n.537G>C n.497G>C | ClinVar |
1 | g.244863995C>T | CA345497398 | HNRNPU | c.313G>A (p.Glu105Lys) n.498G>A c.97G>A (p.Glu33Lys) n.544G>A c.13G>A (p.Glu5Lys) n.537G>A n.497G>A | |
1 | g.244863996C>A | CA345497399 | HNRNPU | c.312G>T (p.Met104Ile) n.497G>T c.96G>T (p.Met32Ile) n.543G>T c.12G>T (p.Met4Ile) n.536G>T n.496G>T | |
1 | g.244863996C= | CA1231007541 | HNRNPU | c.312G= (p.Met104=) n.497G= c.96G= (p.Met32=) n.543G= c.12G= (p.Met4=) n.536G= n.496G= | |
1 | g.244863996C>G | CA345497400 | HNRNPU | c.312G>C (p.Met104Ile) n.497G>C c.96G>C (p.Met32Ile) n.543G>C c.12G>C (p.Met4Ile) n.536G>C n.496G>C | |
1 | g.244863996C>T | CA345497401 | HNRNPU | c.312G>A (p.Met104Ile) n.497G>A c.96G>A (p.Met32Ile) n.543G>A c.12G>A (p.Met4Ile) n.536G>A n.496G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.244863997A= | CA1231007542 | HNRNPU | c.311T= (p.Met104=) n.496T= c.95T= (p.Met32=) n.542T= c.11T= (p.Met4=) n.535T= n.495T= | |
1 | g.244863997A>C | CA345497402 | HNRNPU | c.311T>G (p.Met104Arg) n.496T>G c.95T>G (p.Met32Arg) n.542T>G c.11T>G (p.Met4Arg) n.535T>G n.495T>G | |
1 | g.244863997A>G | CA345497404 | HNRNPU | c.311T>C (p.Met104Thr) n.496T>C c.95T>C (p.Met32Thr) n.542T>C c.11T>C (p.Met4Thr) n.535T>C n.495T>C | |
1 | g.244863997A>T | CA345497403 | HNRNPU | c.311T>A (p.Met104Lys) n.496T>A c.95T>A (p.Met32Lys) n.542T>A c.11T>A (p.Met4Lys) n.535T>A n.495T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244863998T>A | CA345497405 | HNRNPU | c.310A>T (p.Met104Leu) n.495A>T c.94A>T (p.Met32Leu) n.541A>T c.10A>T (p.Met4Leu) n.534A>T n.494A>T | |
1 | g.244863998T>C | CA345497406 | HNRNPU | c.310A>G (p.Met104Val) n.495A>G c.94A>G (p.Met32Val) n.541A>G c.10A>G (p.Met4Val) n.534A>G n.494A>G | |
1 | g.244863998T>G | CA345497407 | HNRNPU | c.310A>C (p.Met104Leu) n.495A>C c.94A>C (p.Met32Leu) n.541A>C c.10A>C (p.Met4Leu) n.534A>C n.494A>C | |
1 | g.244863998dup | CA2580063542 | HNRNPU | c.310dup (p.Met104AsnfsTer?) n.495dup c.94dup (p.Met32AsnfsTer?) n.541dup c.10dup (p.Met4AsnfsTer?) n.534dup n.494dup | ClinVar |
1 | g.244863999C>A | CA345497408 | HNRNPU | c.309G>T (p.Gln103His) n.494G>T c.93G>T (p.Gln31His) n.540G>T c.9G>T (p.Gln3His) n.533G>T n.493G>T | |
1 | g.244863999C>G | CA345497409 | HNRNPU | c.309G>C (p.Gln103His) n.494G>C c.93G>C (p.Gln31His) n.540G>C c.9G>C (p.Gln3His) n.533G>C n.493G>C | |
1 | g.244863999C>T | CA424403515 | HNRNPU | c.309G>A (p.Gln103=) n.494G>A c.93G>A (p.Gln31=) n.540G>A c.9G>A (p.Gln3=) n.533G>A n.493G>A | |
1 | g.244864000T>A | CA345497410 | HNRNPU | c.308A>T (p.Gln103Leu) n.493A>T c.92A>T (p.Gln31Leu) n.539A>T c.8A>T (p.Gln3Leu) n.532A>T n.492A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244864000T>C | CA345497411 | HNRNPU | c.308A>G (p.Gln103Arg) n.493A>G c.92A>G (p.Gln31Arg) n.539A>G c.8A>G (p.Gln3Arg) n.532A>G n.492A>G | |
1 | g.244864000T>G | CA345497412 | HNRNPU | c.308A>C (p.Gln103Pro) n.493A>C c.92A>C (p.Gln31Pro) n.539A>C c.8A>C (p.Gln3Pro) n.532A>C n.492A>C | |
1 | g.244864000T= | CA1231007543 | HNRNPU | c.308A= (p.Gln103=) n.493A= c.92A= (p.Gln31=) n.539A= c.8A= (p.Gln3=) n.532A= n.492A= | |
1 | g.244864001G>A | CA16610079 | HNRNPU | c.307C>T (p.Gln103Ter) n.492C>T c.91C>T (p.Gln31Ter) n.538C>T c.7C>T (p.Gln3Ter) n.531C>T n.491C>T | ClinVar dbSNP |
1 | g.244864001G>C | CA345497413 | HNRNPU | c.307C>G (p.Gln103Glu) n.492C>G c.91C>G (p.Gln31Glu) n.538C>G c.7C>G (p.Gln3Glu) n.531C>G n.491C>G | |
1 | g.244864001G= | CA1231007544 | HNRNPU | c.307C= (p.Gln103=) n.492C= c.91C= (p.Gln31=) n.538C= c.7C= (p.Gln3=) n.531C= n.491C= | |
1 | g.244864001G>T | CA345497414 | HNRNPU | c.307C>A (p.Gln103Lys) n.492C>A c.91C>A (p.Gln31Lys) n.538C>A c.7C>A (p.Gln3Lys) n.531C>A n.491C>A | |
1 | g.244864002G>A | CA424402424 | HNRNPU | c.306C>T (p.Asp102=) n.491C>T c.90C>T (p.Asp30=) n.537C>T c.6C>T (p.Asp2=) n.530C>T n.490C>T | |
1 | g.244864002G>C | CA345497415 | HNRNPU | c.306C>G (p.Asp102Glu) n.491C>G c.90C>G (p.Asp30Glu) n.537C>G c.6C>G (p.Asp2Glu) n.530C>G n.490C>G | |
1 | g.244864002G>T | CA345497416 | HNRNPU | c.306C>A (p.Asp102Glu) n.491C>A c.90C>A (p.Asp30Glu) n.537C>A c.6C>A (p.Asp2Glu) n.530C>A n.490C>A | |
1 | g.244864003T>A | CA345497417 | HNRNPU | c.305A>T (p.Asp102Val) n.490A>T c.89A>T (p.Asp30Val) n.536A>T c.5A>T (p.Asp2Val) n.529A>T n.489A>T | |
1 | g.244864003T>C | CA345497418 | HNRNPU | c.305A>G (p.Asp102Gly) n.490A>G c.89A>G (p.Asp30Gly) n.536A>G c.5A>G (p.Asp2Gly) n.529A>G n.489A>G | |
1 | g.244864003T>G | CA345497419 | HNRNPU | c.305A>C (p.Asp102Ala) n.490A>C c.89A>C (p.Asp30Ala) n.536A>C c.5A>C (p.Asp2Ala) n.529A>C n.489A>C | |
1 | g.244864004C>A | CA345497420 | HNRNPU | c.304G>T (p.Asp102Tyr) n.489G>T c.88G>T (p.Asp30Tyr) n.535G>T c.4G>T (p.Asp2Tyr) n.528G>T n.488G>T | gnomAD v4 |
1 | g.244864004C>G | CA345497421 | HNRNPU | c.304G>C (p.Asp102His) n.489G>C c.88G>C (p.Asp30His) n.535G>C c.4G>C (p.Asp2His) n.528G>C n.488G>C | |
1 | g.244864004C>T | CA345497422 | HNRNPU | c.304G>A (p.Asp102Asn) n.489G>A c.88G>A (p.Asp30Asn) n.535G>A c.4G>A (p.Asp2Asn) n.528G>A n.488G>A | COSMIC COSMIC |
1 | g.244864005G>A | CA1486825 | HNRNPU | c.303C>T (p.Gly101=) n.488C>T c.87C>T (p.Gly29=) n.534C>T c.3C>T (p.Gly1=) n.527C>T n.487C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244864005G>C | CA424402425 | HNRNPU | c.303C>G (p.Gly101=) n.488C>G c.87C>G (p.Gly29=) n.534C>G c.3C>G (p.Gly1=) n.527C>G n.487C>G | |
1 | g.244864005G= | CA1231007545 | HNRNPU | c.303C= (p.Gly101=) n.488C= c.87C= (p.Gly29=) n.534C= c.3C= (p.Gly1=) n.527C= n.487C= | |
1 | g.244864005G>T | CA424402426 | HNRNPU | c.303C>A (p.Gly101=) n.488C>A c.87C>A (p.Gly29=) n.534C>A c.3C>A (p.Gly1=) n.527C>A n.487C>A | |
1 | g.244864006C>A | CA345497425 | HNRNPU | c.302G>T (p.Gly101Val) n.487G>T c.86G>T (p.Gly29Val) n.533G>T c.2G>T (p.Gly1Val) n.526G>T n.486G>T | |
1 | g.244864006C= | CA1231007546 | HNRNPU | c.302G= (p.Gly101=) n.487G= c.86G= (p.Gly29=) n.533G= c.2G= (p.Gly1=) n.526G= n.486G= | |
1 | g.244864006C>G | CA345497423 | HNRNPU | c.302G>C (p.Gly101Ala) n.487G>C c.86G>C (p.Gly29Ala) n.533G>C c.2G>C (p.Gly1Ala) n.526G>C n.486G>C | |
1 | g.244864006C>T | CA345497424 | HNRNPU | c.302G>A (p.Gly101Asp) n.487G>A c.86G>A (p.Gly29Asp) n.533G>A c.2G>A (p.Gly1Asp) n.526G>A n.486G>A | ClinVar dbSNP |
1 | g.244864007C>A | CA345497426 | HNRNPU | c.301G>T (p.Gly101Cys) n.486G>T c.85G>T (p.Gly29Cys) n.532G>T c.1G>T (p.Gly1Cys) n.525G>T n.485G>T | |
1 | g.244864007C= | CA1231007547 | HNRNPU | c.301G= (p.Gly101=) n.486G= c.85G= (p.Gly29=) n.532G= c.1G= (p.Gly1=) n.525G= n.485G= | |
1 | g.244864007C>G | CA345497427 | HNRNPU | c.301G>C (p.Gly101Arg) n.486G>C c.85G>C (p.Gly29Arg) n.532G>C c.1G>C (p.Gly1Arg) n.525G>C n.485G>C | ClinVar dbSNP |
1 | g.244864007C>T | CA345497428 | HNRNPU | c.301G>A (p.Gly101Ser) n.486G>A c.85G>A (p.Gly29Ser) n.532G>A c.1G>A (p.Gly1Ser) n.525G>A n.485G>A | |
1 | g.244864008G>A | CA424402427 | HNRNPU | c.300C>T (p.Asp100=) n.485C>T c.84C>T (p.Asp28=) n.531C>T n.524C>T n.484C>T | gnomAD v4 |
1 | g.244864008G>C | CA345497429 | HNRNPU | c.300C>G (p.Asp100Glu) n.485C>G c.84C>G (p.Asp28Glu) n.531C>G n.524C>G n.484C>G | |
1 | g.244864008G= | CA1231007548 | HNRNPU | c.300C= (p.Asp100=) n.485C= c.84C= (p.Asp28=) n.531C= n.524C= n.484C= | |
1 | g.244864008G>T | CA345497430 | HNRNPU | c.300C>A (p.Asp100Glu) n.485C>A c.84C>A (p.Asp28Glu) n.531C>A n.524C>A n.484C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244864009T>A | CA345497431 | HNRNPU | c.299A>T (p.Asp100Val) n.484A>T c.83A>T (p.Asp28Val) n.530A>T n.523A>T n.483A>T | |
1 | g.244864009T>C | CA345497433 | HNRNPU | c.299A>G (p.Asp100Gly) n.484A>G c.83A>G (p.Asp28Gly) n.530A>G n.523A>G n.483A>G | gnomAD v4 |
1 | g.244864009T>G | CA345497432 | HNRNPU | c.299A>C (p.Asp100Ala) n.484A>C c.83A>C (p.Asp28Ala) n.530A>C n.523A>C n.483A>C | dbSNP |
1 | g.244864009T= | CA1231007549 | HNRNPU | c.299A= (p.Asp100=) n.484A= c.83A= (p.Asp28=) n.530A= n.523A= n.483A= | |
1 | g.244864010C>A | CA345497434 | HNRNPU | c.298G>T (p.Asp100Tyr) n.483G>T c.82G>T (p.Asp28Tyr) n.529G>T n.522G>T n.482G>T | |
1 | g.244864010C>G | CA345497435 | HNRNPU | c.298G>C (p.Asp100His) n.483G>C c.82G>C (p.Asp28His) n.529G>C n.522G>C n.482G>C | |
1 | g.244864010C>T | CA345497436 | HNRNPU | c.298G>A (p.Asp100Asn) n.483G>A c.82G>A (p.Asp28Asn) n.529G>A n.522G>A n.482G>A | |
1 | g.244864011C>A | CA424402428 | HNRNPU | c.297G>T (p.Leu99=) n.482G>T c.81G>T (p.Leu27=) n.528G>T n.521G>T n.481G>T | |
1 | g.244864011C>G | CA424402429 | HNRNPU | c.297G>C (p.Leu99=) n.482G>C c.81G>C (p.Leu27=) n.528G>C n.521G>C n.481G>C | |
1 | g.244864011C>T | CA424402430 | HNRNPU | c.297G>A (p.Leu99=) n.482G>A c.81G>A (p.Leu27=) n.528G>A n.521G>A n.481G>A | |
1 | g.244864012A>C | CA345497437 | HNRNPU | c.296T>G (p.Leu99Arg) n.481T>G c.80T>G (p.Leu27Arg) n.527T>G n.520T>G n.480T>G | |
1 | g.244864012A>G | CA345497438 | HNRNPU | c.296T>C (p.Leu99Pro) n.481T>C c.80T>C (p.Leu27Pro) n.527T>C n.520T>C n.480T>C | ClinVar |
1 | g.244864012A>T | CA345497439 | HNRNPU | c.296T>A (p.Leu99Gln) n.481T>A c.80T>A (p.Leu27Gln) n.527T>A n.520T>A n.480T>A | |
1 | g.244864013G>A | CA424402431 | HNRNPU | c.295C>T (p.Leu99=) n.480C>T c.79C>T (p.Leu27=) n.526C>T n.519C>T n.479C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.244864013G>C | CA345497440 | HNRNPU | c.295C>G (p.Leu99Val) n.480C>G c.79C>G (p.Leu27Val) n.526C>G n.519C>G n.479C>G | gnomAD v4 |
1 | g.244864013G= | CA1231007550 | HNRNPU | c.295C= (p.Leu99=) n.480C= c.79C= (p.Leu27=) n.526C= n.519C= n.479C= | |
1 | g.244864013G>T | CA345497441 | HNRNPU | c.295C>A (p.Leu99Met) n.480C>A c.79C>A (p.Leu27Met) n.526C>A n.519C>A n.479C>A | |
1 | g.244864014A>C | CA424402432 | HNRNPU | c.294T>G (p.Ala98=) n.479T>G c.78T>G (p.Ala26=) n.525T>G n.518T>G n.478T>G | |
1 | g.244864014A>G | CA424402434 | HNRNPU | c.294T>C (p.Ala98=) n.479T>C c.78T>C (p.Ala26=) n.525T>C n.518T>C n.478T>C | |
1 | g.244864014A>T | CA424402433 | HNRNPU | c.294T>A (p.Ala98=) n.479T>A c.78T>A (p.Ala26=) n.525T>A n.518T>A n.478T>A | |
1 | g.244864015G>A | CA345497442 | HNRNPU | c.293C>T (p.Ala98Val) n.478C>T c.77C>T (p.Ala26Val) n.524C>T n.517C>T n.477C>T | gnomAD v4 |
1 | g.244864015G>C | CA345497443 | HNRNPU | c.293C>G (p.Ala98Gly) n.478C>G c.77C>G (p.Ala26Gly) n.524C>G n.517C>G n.477C>G | |
1 | g.244864015G>T | CA345497444 | HNRNPU | c.293C>A (p.Ala98Asp) n.478C>A c.77C>A (p.Ala26Asp) n.524C>A n.517C>A n.477C>A | |
1 | g.244864016C>A | CA345497445 | HNRNPU | c.292G>T (p.Ala98Ser) n.477G>T c.76G>T (p.Ala26Ser) n.523G>T n.516G>T n.476G>T | |
1 | g.244864016C>G | CA345497447 | HNRNPU | c.292G>C (p.Ala98Pro) n.477G>C c.76G>C (p.Ala26Pro) n.523G>C n.516G>C n.476G>C | |
1 | g.244864016C>T | CA345497446 | HNRNPU | c.292G>A (p.Ala98Thr) n.477G>A c.76G>A (p.Ala26Thr) n.523G>A n.516G>A n.476G>A | |
1 | g.244864017G>A | CA1486826 | HNRNPU | c.291C>T (p.Ser97=) n.476C>T c.75C>T (p.Ser25=) n.522C>T n.515C>T n.475C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244864017G>C | CA424402435 | HNRNPU | c.291C>G (p.Ser97=) n.476C>G c.75C>G (p.Ser25=) n.522C>G n.515C>G n.475C>G | |
1 | g.244864017G= | CA1231007551 | HNRNPU | c.291C= (p.Ser97=) n.476C= c.75C= (p.Ser25=) n.522C= n.515C= n.475C= | |
1 | g.244864017G>T | CA424402436 | HNRNPU | c.291C>A (p.Ser97=) n.476C>A c.75C>A (p.Ser25=) n.522C>A n.515C>A n.475C>A | |
1 | g.244864018G>A | CA345497450 | HNRNPU | c.290C>T (p.Ser97Phe) n.475C>T c.74C>T (p.Ser25Phe) n.521C>T n.514C>T n.474C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.244864018G>C | CA345497448 | HNRNPU | c.290C>G (p.Ser97Cys) n.475C>G c.74C>G (p.Ser25Cys) n.521C>G n.514C>G n.474C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.244864018G= | CA1231007552 | HNRNPU | c.290C= (p.Ser97=) n.475C= c.74C= (p.Ser25=) n.521C= n.514C= n.474C= | |
1 | g.244864018G>T | CA345497449 | HNRNPU | c.290C>A (p.Ser97Tyr) n.475C>A c.74C>A (p.Ser25Tyr) n.521C>A n.514C>A n.474C>A | |
1 | g.244864019A= | CA1231007553 | HNRNPU | c.289T= (p.Ser97=) n.474T= c.73T= (p.Ser25=) n.520T= n.513T= n.473T= | |
1 | g.244864019A>C | CA345497451 | HNRNPU | c.289T>G (p.Ser97Ala) n.474T>G c.73T>G (p.Ser25Ala) n.520T>G n.513T>G n.473T>G | dbSNP |
1 | g.244864019A>G | CA345497452 | HNRNPU | c.289T>C (p.Ser97Pro) n.474T>C c.73T>C (p.Ser25Pro) n.520T>C n.513T>C n.473T>C | |
1 | g.244864019A>T | CA345497453 | HNRNPU | c.289T>A (p.Ser97Thr) n.474T>A c.73T>A (p.Ser25Thr) n.520T>A n.513T>A n.473T>A | |
1 | g.244864020G>A | CA1486827 | HNRNPU | c.288C>T (p.Ile96=) n.473C>T c.72C>T (p.Ile24=) n.519C>T n.512C>T n.472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244864020G>C | CA345497454 | HNRNPU | c.288C>G (p.Ile96Met) n.473C>G c.72C>G (p.Ile24Met) n.519C>G n.512C>G n.472C>G | gnomAD v4 |
1 | g.244864020G= | CA1148289656 | HNRNPU | c.288C= (p.Ile96=) n.473C= c.72C= (p.Ile24=) n.519C= n.512C= n.472C= | |
1 | g.244864020G>T | CA424402439 | HNRNPU | c.288C>A (p.Ile96=) n.473C>A c.72C>A (p.Ile24=) n.519C>A n.512C>A n.472C>A | dbSNP gnomAD v2 |
1 | g.244864021A= | CA1231007554 | HNRNPU | c.287T= (p.Ile96=) n.472T= c.71T= (p.Ile24=) n.518T= n.511T= n.471T= | |
1 | g.244864021A>C | CA345497455 | HNRNPU | c.287T>G (p.Ile96Ser) n.472T>G c.71T>G (p.Ile24Ser) n.518T>G n.511T>G n.471T>G | |
1 | g.244864021A>G | CA345497456 | HNRNPU | c.287T>C (p.Ile96Thr) n.472T>C c.71T>C (p.Ile24Thr) n.518T>C n.511T>C n.471T>C | gnomAD v4 |
1 | g.244864021A>T | CA345497457 | HNRNPU | c.287T>A (p.Ile96Asn) n.472T>A c.71T>A (p.Ile24Asn) n.518T>A n.511T>A n.471T>A | dbSNP |
1 | g.244864022T>A | CA345497458 | HNRNPU | c.286A>T (p.Ile96Phe) n.471A>T c.70A>T (p.Ile24Phe) n.517A>T n.510A>T n.470A>T | |
1 | g.244864022T>C | CA1486828 | HNRNPU | c.286A>G (p.Ile96Val) n.471A>G c.70A>G (p.Ile24Val) n.517A>G n.510A>G n.470A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.244864022T>G | CA345497459 | HNRNPU | c.286A>C (p.Ile96Leu) n.471A>C c.70A>C (p.Ile24Leu) n.517A>C n.510A>C n.470A>C | |
1 | g.244864022T= | CA1231007555 | HNRNPU | c.286A= (p.Ile96=) n.471A= c.70A= (p.Ile24=) n.517A= n.510A= n.470A= | |
1 | g.244864023T>A | CA424402441 | HNRNPU | c.285A>T (p.Gly95=) n.470A>T c.69A>T (p.Gly23=) n.516A>T n.509A>T n.469A>T | |
1 | g.244864023T>C | CA424402442 | HNRNPU | c.285A>G (p.Gly95=) n.470A>G c.69A>G (p.Gly23=) n.516A>G n.509A>G n.469A>G | |
1 | g.244864023T>G | CA424402443 | HNRNPU | c.285A>C (p.Gly95=) n.470A>C c.69A>C (p.Gly23=) n.516A>C n.509A>C n.469A>C | |
1 | g.244864024C>A | CA345497460 | HNRNPU | c.284G>T (p.Gly95Val) n.469G>T c.68G>T (p.Gly23Val) n.515G>T n.508G>T n.468G>T | ClinVar |
1 | g.244864024C>G | CA345497462 | HNRNPU | c.284G>C (p.Gly95Ala) n.469G>C c.68G>C (p.Gly23Ala) n.515G>C n.508G>C n.468G>C | gnomAD v4 |
1 | g.244864024C>T | CA345497461 | HNRNPU | c.284G>A (p.Gly95Glu) n.469G>A c.68G>A (p.Gly23Glu) n.515G>A n.508G>A n.468G>A | |
1 | g.244864024_244864042delinsCCTTCCTCCTCCTCTTCCT | CA1231007556 | HNRNPU | c.266_284delinsAGGAAGAGGAGGAGGAAGG (p.Glu89=) n.451_469delinsAGGAAGAGGAGGAGGAAGG c.50_68delinsAGGAAGAGGAGGAGGAAGG (p.Glu17=) n.497_515delinsAGGAAGAGGAGGAGGAAGG n.490_508delinsAGGAAGAGGAGGAGGAAGG n.450_468delinsAGGAAGAGGAGGAGGAAGG | |
1 | g.244864025C>A | CA345497463 | HNRNPU | c.283G>T (p.Gly95Ter) n.468G>T c.67G>T (p.Gly23Ter) n.514G>T n.507G>T n.467G>T | |
1 | g.244864025C>G | CA345497464 | HNRNPU | c.283G>C (p.Gly95Arg) n.468G>C c.67G>C (p.Gly23Arg) n.514G>C n.507G>C n.467G>C | |
1 | g.244864025C>T | CA345497465 | HNRNPU | c.283G>A (p.Gly95Arg) n.468G>A c.67G>A (p.Gly23Arg) n.514G>A n.507G>A n.467G>A | |
1 | g.244864032_244864043del | CA2651343643 | HNRNPU | c.272_283del (p.Glu91_Glu94del) n.457_468del c.56_67del (p.Glu19_Glu22del) n.503_514del n.496_507del n.456_467del | gnomAD v4 |
1 | g.244864041_244864058dup | CA2573051547 | HNRNPU | c.266_283dup (p.Glu94_Gly95insGluGluGluGluGluGlu) n.451_468dup c.50_67dup (p.Glu22_Gly23insGluGluGluGluGluGlu) n.497_514dup n.490_507dup n.450_467dup | ClinVar dbSNP gnomAD v4 |
1 | g.244864041_244864058del | CA916447062 | HNRNPU | c.266_283del (p.Glu89_Glu94del) n.451_468del c.50_67del (p.Glu17_Glu22del) n.497_514del n.490_507del n.450_467del | ClinVar dbSNP gnomAD v4 |
1 | g.244864026T>A | CA345497466 | HNRNPU | c.282A>T (p.Glu94Asp) n.467A>T c.66A>T (p.Glu22Asp) n.513A>T n.506A>T n.466A>T | |
1 | g.244864026T>C | CA1486829 | HNRNPU | c.282A>G (p.Glu94=) n.467A>G c.66A>G (p.Glu22=) n.513A>G n.506A>G n.466A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244864026T>G | CA345497467 | HNRNPU | c.282A>C (p.Glu94Asp) n.467A>C c.66A>C (p.Glu22Asp) n.513A>C n.506A>C n.466A>C | |
1 | g.244864026T= | CA1231007557 | HNRNPU | c.282A= (p.Glu94=) n.467A= c.66A= (p.Glu22=) n.513A= n.506A= n.466A= | |
1 | g.244864026_244864029delinsTTCC | CA1231007558 | HNRNPU | c.279_282delinsGGAA (p.Glu93=) n.464_467delinsGGAA c.63_66delinsGGAA (p.Glu21=) n.510_513delinsGGAA n.503_506delinsGGAA n.463_466delinsGGAA | |
1 | g.244864027T>A | CA345497468 | HNRNPU | c.281A>T (p.Glu94Val) n.466A>T c.65A>T (p.Glu22Val) n.512A>T n.505A>T n.465A>T | |
1 | g.244864027T>C | CA345497469 | HNRNPU | c.281A>G (p.Glu94Gly) n.466A>G c.65A>G (p.Glu22Gly) n.512A>G n.505A>G n.465A>G | |
1 | g.244864027T>G | CA345497470 | HNRNPU | c.281A>C (p.Glu94Ala) n.466A>C c.65A>C (p.Glu22Ala) n.512A>C n.505A>C n.465A>C | |
1 | g.244864027_244864037delinsTCCTCCTCCTC | CA1149063902 | HNRNPU | c.271_281delinsGAGGAGGAGGA (p.Glu91=) n.456_466delinsGAGGAGGAGGA c.55_65delinsGAGGAGGAGGA (p.Glu19=) n.502_512delinsGAGGAGGAGGA n.495_505delinsGAGGAGGAGGA n.455_465delinsGAGGAGGAGGA | |
1 | g.244864035_244864037dup | CA1014270539 | HNRNPU | c.279_281dup (p.Glu94_Gly95insGlu) n.464_466dup c.63_65dup (p.Glu22_Gly23insGlu) n.510_512dup n.503_505dup n.463_465dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244864032_244864037dup | CA1486831 | HNRNPU | c.276_281dup (p.Glu94_Gly95insGluGlu) n.461_466dup c.60_65dup (p.Glu22_Gly23insGluGlu) n.507_512dup n.500_505dup n.460_465dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244864035_244864037del | CA1486830 | HNRNPU | c.279_281del (p.Glu94del) n.464_466del c.63_65del (p.Glu22del) n.510_512del n.503_505del n.463_465del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.244864028C>A | CA345497473 | HNRNPU | c.280G>T (p.Glu94Ter) n.465G>T c.64G>T (p.Glu22Ter) n.511G>T n.504G>T n.464G>T | |
1 | g.244864028C>G | CA345497472 | HNRNPU | c.280G>C (p.Glu94Gln) n.465G>C c.64G>C (p.Glu22Gln) n.511G>C n.504G>C n.464G>C | |
1 | g.244864028C>T | CA345497471 | HNRNPU | c.280G>A (p.Glu94Lys) n.465G>A c.64G>A (p.Glu22Lys) n.511G>A n.504G>A n.464G>A | |
1 | g.244864029C>A | CA345497474 | HNRNPU | c.279G>T (p.Glu93Asp) n.464G>T c.63G>T (p.Glu21Asp) n.510G>T n.503G>T n.463G>T | gnomAD v4 |
1 | g.244864029C= | CA1231007559 | HNRNPU | c.279G= (p.Glu93=) n.464G= c.63G= (p.Glu21=) n.510G= n.503G= n.463G= | |
1 | g.244864029C>G | CA345497475 | HNRNPU | c.279G>C (p.Glu93Asp) n.464G>C c.63G>C (p.Glu21Asp) n.510G>C n.503G>C n.463G>C | |
1 | g.244864029C>T | CA424402453 | HNRNPU | c.279G>A (p.Glu93=) n.464G>A c.63G>A (p.Glu21=) n.510G>A n.503G>A n.463G>A | ClinVar dbSNP |
1 | g.244864030T>A | CA345497476 | HNRNPU | c.278A>T (p.Glu93Val) n.463A>T c.62A>T (p.Glu21Val) n.509A>T n.502A>T n.462A>T | |
1 | g.244864030T>C | CA345497477 | HNRNPU | c.278A>G (p.Glu93Gly) n.463A>G c.62A>G (p.Glu21Gly) n.509A>G n.502A>G n.462A>G | gnomAD v4 |
1 | g.244864030T>G | CA345497478 | HNRNPU | c.278A>C (p.Glu93Ala) n.463A>C c.62A>C (p.Glu21Ala) n.509A>C n.502A>C n.462A>C | |
1 | g.244864035_244864043del | CA2651343656 | HNRNPU | c.270_278del (p.Glu91_Glu93del) n.455_463del c.54_62del (p.Glu19_Glu21del) n.501_509del n.494_502del n.454_462del | gnomAD v4 |
1 | g.244864031C>A | CA345497481 | HNRNPU | c.277G>T (p.Glu93Ter) n.462G>T c.61G>T (p.Glu21Ter) n.508G>T n.501G>T n.461G>T | |
1 | g.244864031C= | CA1231007560 | HNRNPU | c.277G= (p.Glu93=) n.462G= c.61G= (p.Glu21=) n.508G= n.501G= n.461G= | |
1 | g.244864031C>G | CA345497480 | HNRNPU | c.277G>C (p.Glu93Gln) n.462G>C c.61G>C (p.Glu21Gln) n.508G>C n.501G>C n.461G>C | |
1 | g.244864031C>T | CA345497479 | HNRNPU | c.277G>A (p.Glu93Lys) n.462G>A c.61G>A (p.Glu21Lys) n.508G>A n.501G>A n.461G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.244864032C>A | CA345497482 | HNRNPU | c.276G>T (p.Glu92Asp) n.461G>T c.60G>T (p.Glu20Asp) n.507G>T n.500G>T n.460G>T | |
1 | g.244864032C>G | CA345497483 | HNRNPU | c.276G>C (p.Glu92Asp) n.461G>C c.60G>C (p.Glu20Asp) n.507G>C n.500G>C n.460G>C | gnomAD v4 |
1 | g.244864032C>T | CA424402457 | HNRNPU | c.276G>A (p.Glu92=) n.461G>A c.60G>A (p.Glu20=) n.507G>A n.500G>A n.460G>A | |
1 | g.244864032_244864038delinsCTCCTCT | CA1231007561 | HNRNPU | c.270_276delinsAGAGGAG (p.Glu90=) n.455_461delinsAGAGGAG c.54_60delinsAGAGGAG (p.Glu18=) n.501_507delinsAGAGGAG n.494_500delinsAGAGGAG n.454_460delinsAGAGGAG |