| X | g.46837100_46837118del | CA2697553094 | RP2 | c.-1_18del
| ClinVar |
| X | g.46837114_46837116del | CA645509226 | RP2 | c.14_16del (p.Phe5del)
| ClinVar dbSNP |
| X | g.46837114T>A | CA413038161 | RP2 | c.14T>A (p.Phe5Tyr)
| |
| X | g.46837114T>C | CA413038162 | RP2 | c.14T>C (p.Phe5Ser)
| gnomAD v4 |
| X | g.46837114T>G | CA413038163 | RP2 | c.14T>G (p.Phe5Cys)
| |
| X | g.46837114_46837117delinsTCTC | CA2427726218 | RP2 | c.14_17delinsTCTC (p.Phe5=)
| |
| X | g.46837115C>A | CA413038164 | RP2 | c.15C>A (p.Phe5Leu)
| |
| X | g.46837115C= | CA2427726219 | RP2 | c.15C= (p.Phe5=)
| |
| X | g.46837115C>G | CA413038165 | RP2 | c.15C>G (p.Phe5Leu)
| |
| X | g.46837115C>T | CA516251391 | RP2 | c.15C>T (p.Phe5=)
| dbSNP |
| X | g.46837116_46837118del | CA255297 | RP2 | c.16_18del (p.Ser6del)
| ClinVar dbSNP gnomAD v2 |
| X | g.46837116T>A | CA413038167 | RP2 | c.16T>A (p.Ser6Thr)
| |
| X | g.46837116T>C | CA413038166 | RP2 | c.16T>C (p.Ser6Pro)
| |
| X | g.46837116T>G | CA413038168 | RP2 | c.16T>G (p.Ser6Ala)
| |
| X | g.46837117C>A | CA413038169 | RP2 | c.17C>A (p.Ser6Tyr)
| gnomAD v4 |
| X | g.46837117C= | CA2427726220 | RP2 | c.17C= (p.Ser6=)
| |
| X | g.46837117C>G | CA413038171 | RP2 | c.17C>G (p.Ser6Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837117C>T | CA413038170 | RP2 | c.17C>T (p.Ser6Phe)
| gnomAD v4 |
| X | g.46837118C>A | CA516251418 | RP2 | c.18C>A (p.Ser6=)
| gnomAD v4 |
| X | g.46837118C= | CA2427726221 | RP2 | c.18C= (p.Ser6=)
| |
| X | g.46837118C>G | CA329690611 | RP2 | c.18C>G (p.Ser6=)
| dbSNP |
| X | g.46837118C>T | CA516251415 | RP2 | c.18C>T (p.Ser6=)
| |
| X | g.46837119A= | CA2427726222 | RP2 | c.19A= (p.Lys7=)
| |
| X | g.46837119A>C | CA413038172 | RP2 | c.19A>C (p.Lys7Gln)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837119A>G | CA413038173 | RP2 | c.19A>G (p.Lys7Glu)
| gnomAD v4 |
| X | g.46837119A>T | CA413038174 | RP2 | c.19A>T (p.Lys7Ter)
| |
| X | g.46837119_46837120del | CA2573158911 | RP2 | c.19_20del (p.Lys7GlufsTer5)
| ClinVar dbSNP |
| X | g.46837120A>C | CA413038175 | RP2 | c.20A>C (p.Lys7Thr)
| |
| X | g.46837120A>G | CA413038176 | RP2 | c.20A>G (p.Lys7Arg)
| |
| X | g.46837120A>T | CA413038177 | RP2 | c.20A>T (p.Lys7Met)
| |
| X | g.46837121G>A | CA516251430 | RP2 | c.21G>A (p.Lys7=)
| |
| X | g.46837121G>C | CA413038178 | RP2 | c.21G>C (p.Lys7Asn)
| |
| X | g.46837121G>T | CA413038179 | RP2 | c.21G>T (p.Lys7Asn)
| gnomAD v4 |
| X | g.46837122A>C | CA516251438 | RP2 | c.22A>C (p.Arg8=)
| |
| X | g.46837122A>G | CA413038180 | RP2 | c.22A>G (p.Arg8Gly)
| |
| X | g.46837122A>T | CA413038181 | RP2 | c.22A>T (p.Arg8Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837122_46837126delinsAGACG | CA2427726223 | RP2 | c.22_26delinsAGACG (p.Arg8=)
| |
| X | g.46837123G>A | CA413038182 | RP2 | c.23G>A (p.Arg8Lys)
| gnomAD v4 |
| X | g.46837123G>C | CA413038183 | RP2 | c.23G>C (p.Arg8Thr)
| |
| X | g.46837123G>T | CA413038184 | RP2 | c.23G>T (p.Arg8Ile)
| gnomAD v4 |
| X | g.46837125_46837128del | CA915951027 | RP2 | c.25_28del (p.Lys10LeufsTer?)
| ClinVar dbSNP |
| X | g.46837124A>C | CA413038185 | RP2 | c.24A>C (p.Arg8Ser)
| |
| X | g.46837124A>G | CA516251481 | RP2 | c.24A>G (p.Arg8=)
| |
| X | g.46837124A>T | CA413038186 | RP2 | c.24A>T (p.Arg8Ser)
| |
| X | g.46837125C>A | CA516251482 | RP2 | c.25C>A (p.Arg9=)
| |
| X | g.46837125C= | CA2427726224 | RP2 | c.25C= (p.Arg9=)
| |
| X | g.46837125C>G | CA413038187 | RP2 | c.25C>G (p.Arg9Gly)
| |
| X | g.46837125C>T | CA413038188 | RP2 | c.25C>T (p.Arg9Trp)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.46837126G>A | CA413038189 | RP2 | c.26G>A (p.Arg9Gln)
| gnomAD v4 |
| X | g.46837126G>C | CA413038190 | RP2 | c.26G>C (p.Arg9Pro)
| |
| X | g.46837126G= | CA2427726225 | RP2 | c.26G= (p.Arg9=)
| |
| X | g.46837126G>T | CA413038191 | RP2 | c.26G>T (p.Arg9Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.46837129_46837141del | CA2580100995 | RP2 | c.29_41del (p.Lys10SerfsTer?)
| ClinVar |
| X | g.46837127G>A | CA516251490 | RP2 | c.27G>A (p.Arg9=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837127G>C | CA516251496 | RP2 | c.27G>C (p.Arg9=)
| |
| X | g.46837127G= | CA2427726226 | RP2 | c.27G= (p.Arg9=)
| |
| X | g.46837127G>T | CA516251499 | RP2 | c.27G>T (p.Arg9=)
| gnomAD v4 |
| X | g.46837128A= | CA2427726227 | RP2 | c.28A= (p.Lys10=)
| |
| X | g.46837128A>C | CA413038192 | RP2 | c.28A>C (p.Lys10Gln)
| |
| X | g.46837128A>G | CA413038193 | RP2 | c.28A>G (p.Lys10Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837128A>T | CA413038194 | RP2 | c.28A>T (p.Lys10Ter)
| ClinVar |
| X | g.46837129A>C | CA413038195 | RP2 | c.29A>C (p.Lys10Thr)
| |
| X | g.46837129A>G | CA413038196 | RP2 | c.29A>G (p.Lys10Arg)
| |
| X | g.46837129A>T | CA413038197 | RP2 | c.29A>T (p.Lys10Met)
| |
| X | g.46837130G>A | CA10394161 | RP2 | c.30G>A (p.Lys10=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.46837130G>C | CA413038199 | RP2 | c.30G>C (p.Lys10Asn)
| |
| X | g.46837130G= | CA2427726228 | RP2 | c.30G= (p.Lys10=)
| |
| X | g.46837130G>T | CA413038198 | RP2 | c.30G>T (p.Lys10Asn)
| gnomAD v4 |
| X | g.46837131G>A | CA413038200 | RP2 | c.31G>A (p.Ala11Thr)
| |
| X | g.46837131G>C | CA413038201 | RP2 | c.31G>C (p.Ala11Pro)
| |
| X | g.46837131G>T | CA413038202 | RP2 | c.31G>T (p.Ala11Ser)
| |
| X | g.46837132C>A | CA413038203 | RP2 | c.32C>A (p.Ala11Asp)
| gnomAD v4 |
| X | g.46837132C>G | CA413038204 | RP2 | c.32C>G (p.Ala11Gly)
| |
| X | g.46837132C>T | CA413038205 | RP2 | c.32C>T (p.Ala11Val)
| gnomAD v4 |
| X | g.46837133T>A | CA516251534 | RP2 | c.33T>A (p.Ala11=)
| |
| X | g.46837133T>C | CA516251540 | RP2 | c.33T>C (p.Ala11=)
| |
| X | g.46837133T>G | CA516251542 | RP2 | c.33T>G (p.Ala11=)
| |
| X | g.46837134G>A | CA413038206 | RP2 | c.34G>A (p.Asp12Asn)
| gnomAD v4 |
| X | g.46837134G>C | CA413038207 | RP2 | c.34G>C (p.Asp12His)
| |
| X | g.46837134G>T | CA413038208 | RP2 | c.34G>T (p.Asp12Tyr)
| gnomAD v4 |
| X | g.46837135A= | CA2427726229 | RP2 | c.35A= (p.Asp12=)
| |
| X | g.46837135A>C | CA413038209 | RP2 | c.35A>C (p.Asp12Ala)
| |
| X | g.46837135A>G | CA413038210 | RP2 | c.35A>G (p.Asp12Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837135A>T | CA413038211 | RP2 | c.35A>T (p.Asp12Val)
| gnomAD v4 |
| X | g.46837136C>A | CA413038212 | RP2 | c.36C>A (p.Asp12Glu)
| |
| X | g.46837136C>G | CA413038213 | RP2 | c.36C>G (p.Asp12Glu)
| |
| X | g.46837136C>T | CA516251611 | RP2 | c.36C>T (p.Asp12=)
| ClinVar |
| X | g.46837137A= | CA2427726230 | RP2 | c.37A= (p.Lys13=)
| |
| X | g.46837137A>C | CA413038214 | RP2 | c.37A>C (p.Lys13Gln)
| |
| X | g.46837137A>G | CA413038215 | RP2 | c.37A>G (p.Lys13Glu)
| gnomAD v4 |
| X | g.46837137A>T | CA413038216 | RP2 | c.37A>T (p.Lys13Ter)
| ClinVar dbSNP |
| X | g.46837138A= | CA2427726231 | RP2 | c.38A= (p.Lys13=)
| |
| X | g.46837138A>C | CA413038217 | RP2 | c.38A>C (p.Lys13Thr)
| |
| X | g.46837138A>G | CA413038218 | RP2 | c.38A>G (p.Lys13Arg)
| gnomAD v4 |
| X | g.46837138A>T | CA413038219 | RP2 | c.38A>T (p.Lys13Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.46837138_46837139delinsAG | CA2427726232 | RP2 | c.38_39delinsAG (p.Lys13=)
| |
| X | g.46837139G>A | CA516251639 | RP2 | c.39G>A (p.Lys13=)
| gnomAD v4 |
| X | g.46837139G>C | CA413038220 | RP2 | c.39G>C (p.Lys13Asn)
| |
| X | g.46837139G>T | CA413038221 | RP2 | c.39G>T (p.Lys13Asn)
| |
| X | g.46837140del | CA1139667493 | RP2 | c.40del (p.Glu14SerfsTer?)
| ClinVar dbSNP |
| X | g.46837140_46837152del | CA2820729976 | RP2 | c.40_52del (p.Glu14ArgfsTer28)
| |
| X | g.46837140G>A | CA413038222 | RP2 | c.40G>A (p.Glu14Lys)
| |
| X | g.46837140G>C | CA413038223 | RP2 | c.40G>C (p.Glu14Gln)
| |
| X | g.46837140G>T | CA413038224 | RP2 | c.40G>T (p.Glu14Ter)
| gnomAD v4 |
| X | g.46837141A>C | CA413038226 | RP2 | c.41A>C (p.Glu14Ala)
| |
| X | g.46837141A>G | CA413038227 | RP2 | c.41A>G (p.Glu14Gly)
| |
| X | g.46837141A>T | CA413038225 | RP2 | c.41A>T (p.Glu14Val)
| |
| X | g.46837142G>A | CA516251651 | RP2 | c.42G>A (p.Glu14=)
| gnomAD v4 |
| X | g.46837142G>C | CA413038229 | RP2 | c.42G>C (p.Glu14Asp)
| |
| X | g.46837142G>T | CA413038228 | RP2 | c.42G>T (p.Glu14Asp)
| gnomAD v4 |
| X | g.46837142_46837143delinsGT | CA2427726233 | RP2 | c.42_43delinsGT (p.Glu14=)
| |
| X | g.46837143del | CA645509227 | RP2 | c.43del (p.Ser15ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837143T>A | CA413038230 | RP2 | c.43T>A (p.Ser15Thr)
| |
| X | g.46837143T>C | CA413038231 | RP2 | c.43T>C (p.Ser15Pro)
| |
| X | g.46837143T>G | CA413038232 | RP2 | c.43T>G (p.Ser15Ala)
| |
| X | g.46837144C>A | CA413038233 | RP2 | c.44C>A (p.Ser15Ter)
| gnomAD v4 |
| X | g.46837144C= | CA2427726234 | RP2 | c.44C= (p.Ser15=)
| |
| X | g.46837144C>G | CA413038234 | RP2 | c.44C>G (p.Ser15Trp)
| dbSNP gnomAD v4 COSMIC |
| X | g.46837144C>T | CA413038235 | RP2 | c.44C>T (p.Ser15Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837145G>A | CA516251666 | RP2 | c.45G>A (p.Ser15=)
| gnomAD v4 |
| X | g.46837145G>C | CA516251677 | RP2 | c.45G>C (p.Ser15=)
| |
| X | g.46837145G>T | CA516251681 | RP2 | c.45G>T (p.Ser15=)
| |
| X | g.46837146C>A | CA516251684 | RP2 | c.46C>A (p.Arg16=)
| gnomAD v4 |
| X | g.46837146C>G | CA413038236 | RP2 | c.46C>G (p.Arg16Gly)
| |
| X | g.46837146C>T | CA413038237 | RP2 | c.46C>T (p.Arg16Trp)
| gnomAD v4 COSMIC |
| X | g.46837147G>A | CA329690612 | RP2 | c.47G>A (p.Arg16Gln)
| dbSNP gnomAD v4 |
| X | g.46837147G>C | CA10394162 | RP2 | c.47G>C (p.Arg16Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46837147G= | CA2427726235 | RP2 | c.47G= (p.Arg16=)
| |
| X | g.46837147G>T | CA413038238 | RP2 | c.47G>T (p.Arg16Leu)
| ClinVar gnomAD v4 |
| X | g.46837148G>A | CA516251696 | RP2 | c.48G>A (p.Arg16=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837148G>C | CA516251703 | RP2 | c.48G>C (p.Arg16=)
| |
| X | g.46837148G= | CA2427726236 | RP2 | c.48G= (p.Arg16=)
| |
| X | g.46837148G>T | CA516251706 | RP2 | c.48G>T (p.Arg16=)
| gnomAD v4 |
| X | g.46837149C>A | CA413038240 | RP2 | c.49C>A (p.Pro17Thr)
| gnomAD v4 |
| X | g.46837149C= | CA2427726237 | RP2 | c.49C= (p.Pro17=)
| |
| X | g.46837149C>G | CA413038239 | RP2 | c.49C>G (p.Pro17Ala)
| |
| X | g.46837149C>T | CA10394163 | RP2 | c.49C>T (p.Pro17Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837150C>A | CA413038241 | RP2 | c.50C>A (p.Pro17His)
| gnomAD v4 |
| X | g.46837150C= | CA2427726238 | RP2 | c.50C= (p.Pro17=)
| |
| X | g.46837150C>G | CA10394165 | RP2 | c.50C>G (p.Pro17Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837150C>T | CA10394164 | RP2 | c.50C>T (p.Pro17Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46837151C>A | CA516251715 | RP2 | c.51C>A (p.Pro17=)
| ClinVar gnomAD v4 |
| X | g.46837151C= | CA2427726239 | RP2 | c.51C= (p.Pro17=)
| |
| X | g.46837151C>G | CA10394166 | RP2 | c.51C>G (p.Pro17=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837151C>T | CA516251721 | RP2 | c.51C>T (p.Pro17=)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837151_46837152del | CA2693550388 | RP2 | c.51_52del (p.Asn19ArgfsTer17)
| gnomAD v4 |
| X | g.46837152G>A | CA10394167 | RP2 | c.52G>A (p.Glu18Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837152G>C | CA413038242 | RP2 | c.52G>C (p.Glu18Gln)
| |
| X | g.46837152G= | CA2427726240 | RP2 | c.52G= (p.Glu18=)
| |
| X | g.46837152G>T | CA413038243 | RP2 | c.52G>T (p.Glu18Ter)
| gnomAD v4 |
| X | g.46837153A>C | CA413038244 | RP2 | c.53A>C (p.Glu18Ala)
| |
| X | g.46837153A>G | CA413038245 | RP2 | c.53A>G (p.Glu18Gly)
| gnomAD v4 |
| X | g.46837153A>T | CA413038246 | RP2 | c.53A>T (p.Glu18Val)
| gnomAD v4 |
| X | g.46837154G>A | CA516251754 | RP2 | c.54G>A (p.Glu18=)
| gnomAD v4 |
| X | g.46837154G>C | CA413038247 | RP2 | c.54G>C (p.Glu18Asp)
| |
| X | g.46837154G>T | CA413038248 | RP2 | c.54G>T (p.Glu18Asp)
| gnomAD v4 |
| X | g.46837155A>C | CA413038251 | RP2 | c.55A>C (p.Asn19His)
| |
| X | g.46837155A>G | CA413038250 | RP2 | c.55A>G (p.Asn19Asp)
| |
| X | g.46837155A>T | CA413038249 | RP2 | c.55A>T (p.Asn19Tyr)
| |
| X | g.46837156A= | CA2427726241 | RP2 | c.56A= (p.Asn19=)
| |
| X | g.46837156A>C | CA413038252 | RP2 | c.56A>C (p.Asn19Thr)
| |
| X | g.46837156A>G | CA413038253 | RP2 | c.56A>G (p.Asn19Ser)
| dbSNP gnomAD v4 |
| X | g.46837156A>T | CA413038254 | RP2 | c.56A>T (p.Asn19Ile)
| |
| X | g.46837157C>A | CA413038255 | RP2 | c.57C>A (p.Asn19Lys)
| gnomAD v4 |
| X | g.46837157C= | CA2427726243 | RP2 | c.57C= (p.Asn19=)
| |
| X | g.46837157C>G | CA413038256 | RP2 | c.57C>G (p.Asn19Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837157C>T | CA516251785 | RP2 | c.57C>T (p.Asn19=)
| ClinVar gnomAD v4 COSMIC |
| X | g.46837157_46837160delinsCGAG | CA2427726242 | RP2 | c.57_60delinsCGAG (p.Asn19=)
| |
| X | g.46837158G>A | CA413038257 | RP2 | c.58G>A (p.Glu20Lys)
| dbSNP gnomAD v4 |
| X | g.46837158G>C | CA413038258 | RP2 | c.58G>C (p.Glu20Gln)
| |
| X | g.46837158G= | CA2427726244 | RP2 | c.58G= (p.Glu20=)
| |
| X | g.46837158G>T | CA413038259 | RP2 | c.58G>T (p.Glu20Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837164_46837166del | CA641727487 | RP2 | c.64_66del (p.Glu22del)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837159A= | CA2427726245 | RP2 | c.59A= (p.Glu20=)
| |
| X | g.46837159A>C | CA413038260 | RP2 | c.59A>C (p.Glu20Ala)
| |
| X | g.46837159A>G | CA413038261 | RP2 | c.59A>G (p.Glu20Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.46837159A>T | CA413038262 | RP2 | c.59A>T (p.Glu20Val)
| |
| X | g.46837160G>A | CA516251809 | RP2 | c.60G>A (p.Glu20=)
| gnomAD v4 |
| X | g.46837160G>C | CA413038263 | RP2 | c.60G>C (p.Glu20Asp)
| |
| X | g.46837160G>T | CA413038264 | RP2 | c.60G>T (p.Glu20Asp)
| gnomAD v4 |
| X | g.46837161G>A | CA413038267 | RP2 | c.61G>A (p.Glu21Lys)
| gnomAD v4 |
| X | g.46837161G>C | CA413038265 | RP2 | c.61G>C (p.Glu21Gln)
| |
| X | g.46837161G>T | CA413038266 | RP2 | c.61G>T (p.Glu21Ter)
| gnomAD v4 |
| X | g.46837162A>C | CA413038268 | RP2 | c.62A>C (p.Glu21Ala)
| |
| X | g.46837162A>G | CA413038269 | RP2 | c.62A>G (p.Glu21Gly)
| |
| X | g.46837162A>T | CA413038270 | RP2 | c.62A>T (p.Glu21Val)
| |
| X | g.46837163G>A | CA516251818 | RP2 | c.63G>A (p.Glu21=)
| gnomAD v4 |
| X | g.46837163G>C | CA413038271 | RP2 | c.63G>C (p.Glu21Asp)
| |
| X | g.46837163G>T | CA413038272 | RP2 | c.63G>T (p.Glu21Asp)
| gnomAD v4 |
| X | g.46837164G>A | CA413038273 | RP2 | c.64G>A (p.Glu22Lys)
| gnomAD v4 |
| X | g.46837164G>C | CA413038274 | RP2 | c.64G>C (p.Glu22Gln)
| |
| X | g.46837164G>T | CA413038275 | RP2 | c.64G>T (p.Glu22Ter)
| gnomAD v4 |
| X | g.46837165A>C | CA413038276 | RP2 | c.65A>C (p.Glu22Ala)
| |
| X | g.46837165A>G | CA413038277 | RP2 | c.65A>G (p.Glu22Gly)
| gnomAD v4 |
| X | g.46837165A>T | CA413038278 | RP2 | c.65A>T (p.Glu22Val)
| |
| X | g.46837166G>A | CA516251840 | RP2 | c.66G>A (p.Glu22=)
| gnomAD v4 |
| X | g.46837166G>C | CA413038279 | RP2 | c.66G>C (p.Glu22Asp)
| dbSNP |
| X | g.46837166G= | CA2427726246 | RP2 | c.66G= (p.Glu22=)
| |
| X | g.46837166G>T | CA413038280 | RP2 | c.66G>T (p.Glu22Asp)
| gnomAD v4 |
| X | g.46837167C>A | CA516251846 | RP2 | c.67C>A (p.Arg23=)
| gnomAD v4 |
| X | g.46837167C= | CA2427726247 | RP2 | c.67C= (p.Arg23=)
| |
| X | g.46837167C>G | CA413038281 | RP2 | c.67C>G (p.Arg23Gly)
| |
| X | g.46837167C>T | CA10394168 | RP2 | c.67C>T (p.Arg23Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837168G>A | CA10394169 | RP2 | c.68G>A (p.Arg23Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837168G>C | CA413038285 | RP2 | c.68G>C (p.Arg23Pro)
| gnomAD v4 |
| X | g.46837168G= | CA2427726248 | RP2 | c.68G= (p.Arg23=)
| |
| X | g.46837168G>T | CA413038284 | RP2 | c.68G>T (p.Arg23Leu)
| gnomAD v4 COSMIC |
| X | g.46837169G>A | CA516251857 | RP2 | c.69G>A (p.Arg23=)
| gnomAD v4 |
| X | g.46837169G>C | CA516251867 | RP2 | c.69G>C (p.Arg23=)
| |
| X | g.46837169G>T | CA516251859 | RP2 | c.69G>T (p.Arg23=)
| gnomAD v4 |
| X | g.46837170C>A | CA413038288 | RP2 | c.70C>A (p.Pro24Thr)
| gnomAD v4 |
| X | g.46837170C>G | CA413038290 | RP2 | c.70C>G (p.Pro24Ala)
| |
| X | g.46837170C>T | CA413038289 | RP2 | c.70C>T (p.Pro24Ser)
| gnomAD v4 |
| X | g.46837170_46837171insA | CA2820729977 | RP2 | c.70_71insA (p.Pro24HisfsTer13)
| |
| X | g.46837171C>A | CA413038292 | RP2 | c.71C>A (p.Pro24Gln)
| gnomAD v4 |
| X | g.46837171C>G | CA413038294 | RP2 | c.71C>G (p.Pro24Arg)
| |
| X | g.46837171C>T | CA413038295 | RP2 | c.71C>T (p.Pro24Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837171_46837189del | CA2820729978 | RP2 | c.71_89del (p.Pro24LeufsTer16)
| |
| X | g.46837172A= | CA2427726249 | RP2 | c.72A= (p.Pro24=)
| |
| X | g.46837172A>C | CA516251888 | RP2 | c.72A>C (p.Pro24=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837172A>G | CA516251890 | RP2 | c.72A>G (p.Pro24=)
| |
| X | g.46837172A>T | CA516251893 | RP2 | c.72A>T (p.Pro24=)
| gnomAD v4 |
| X | g.46837174del | CA2497028748 | RP2 | c.74del (p.Lys25SerfsTer21)
| |
| X | g.46837173A>C | CA413038296 | RP2 | c.73A>C (p.Lys25Gln)
| |
| X | g.46837173A>G | CA413038297 | RP2 | c.73A>G (p.Lys25Glu)
| |
| X | g.46837173A>T | CA413038298 | RP2 | c.73A>T (p.Lys25Ter)
| |
| X | g.46837174A= | CA2427726250 | RP2 | c.74A= (p.Lys25=)
| |
| X | g.46837174A>C | CA413038299 | RP2 | c.74A>C (p.Lys25Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837174A>G | CA413038300 | RP2 | c.74A>G (p.Lys25Arg)
| gnomAD v4 |
| X | g.46837174A>T | CA413038301 | RP2 | c.74A>T (p.Lys25Met)
| gnomAD v4 |
| X | g.46837175G>A | CA516251906 | RP2 | c.75G>A (p.Lys25=)
| gnomAD v4 |
| X | g.46837175G>C | CA413038302 | RP2 | c.75G>C (p.Lys25Asn)
| |
| X | g.46837175G= | CA2427726251 | RP2 | c.75G= (p.Lys25=)
| |
| X | g.46837175G>T | CA413038303 | RP2 | c.75G>T (p.Lys25Asn)
| gnomAD v4 |
| X | g.46837176C>A | CA413038306 | RP2 | c.76C>A (p.Gln26Lys)
| gnomAD v4 |
| X | g.46837176C= | CA2427726252 | RP2 | c.76C= (p.Gln26=)
| |
| X | g.46837176C>G | CA413038304 | RP2 | c.76C>G (p.Gln26Glu)
| |
| X | g.46837176C>T | CA255299 | RP2 | c.76C>T (p.Gln26Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837176_46837177dup | CA658799726 | RP2 | c.76_77dup (p.Gln26HisfsTer21)
| ClinVar dbSNP |
| X | g.46837177A>C | CA413038308 | RP2 | c.77A>C (p.Gln26Pro)
| |
| X | g.46837177A>G | CA413038309 | RP2 | c.77A>G (p.Gln26Arg)
| |
| X | g.46837177A>T | CA413038310 | RP2 | c.77A>T (p.Gln26Leu)
| |
| X | g.46837178G>A | CA516251919 | RP2 | c.78G>A (p.Gln26=)
| gnomAD v4 |
| X | g.46837178G>C | CA413038313 | RP2 | c.78G>C (p.Gln26His)
| |
| X | g.46837178G>T | CA413038314 | RP2 | c.78G>T (p.Gln26His)
| gnomAD v4 |
| X | g.46837179T>A | CA413038315 | RP2 | c.79T>A (p.Tyr27Asn)
| gnomAD v4 |
| X | g.46837179T>C | CA413038316 | RP2 | c.79T>C (p.Tyr27His)
| |
| X | g.46837179T>G | CA413038318 | RP2 | c.79T>G (p.Tyr27Asp)
| |
| X | g.46837180A>C | CA413038320 | RP2 | c.80A>C (p.Tyr27Ser)
| |
| X | g.46837180A>G | CA413038321 | RP2 | c.80A>G (p.Tyr27Cys)
| |
| X | g.46837180A>T | CA413038322 | RP2 | c.80A>T (p.Tyr27Phe)
| |
| X | g.46837180_46837181insAA | CA2580100999 | RP2 | c.80_81insAA (p.Tyr27Ter)
| ClinVar |
| X | g.46837181C>A | CA413038326 | RP2 | c.81C>A (p.Tyr27Ter)
| |
| X | g.46837181C>G | CA413038324 | RP2 | c.81C>G (p.Tyr27Ter)
| gnomAD v4 |
| X | g.46837181C>T | CA516251944 | RP2 | c.81C>T (p.Tyr27=)
| |
| X | g.46837182A>C | CA413038327 | RP2 | c.82A>C (p.Ser28Arg)
| |
| X | g.46837182A>G | CA413038328 | RP2 | c.82A>G (p.Ser28Gly)
| gnomAD v4 |
| X | g.46837182A>T | CA413038329 | RP2 | c.82A>T (p.Ser28Cys)
| gnomAD v4 |
| X | g.46837183G>A | CA413038331 | RP2 | c.83G>A (p.Ser28Asn)
| gnomAD v4 |
| X | g.46837183G>C | CA413038333 | RP2 | c.83G>C (p.Ser28Thr)
| |
| X | g.46837183G>T | CA413038334 | RP2 | c.83G>T (p.Ser28Ile)
| gnomAD v4 |
| X | g.46837184C>A | CA413038336 | RP2 | c.84C>A (p.Ser28Arg)
| gnomAD v4 |
| X | g.46837184C>G | CA413038335 | RP2 | c.84C>G (p.Ser28Arg)
| |
| X | g.46837184C>T | CA516251958 | RP2 | c.84C>T (p.Ser28=)
| gnomAD v4 |
| X | g.46837185T>A | CA413038337 | RP2 | c.85T>A (p.Trp29Arg)
| |
| X | g.46837185T>C | CA413038338 | RP2 | c.85T>C (p.Trp29Arg)
| gnomAD v4 |
| X | g.46837185T>G | CA413038339 | RP2 | c.85T>G (p.Trp29Gly)
| |
| X | g.46837186G>A | CA413038340 | RP2 | c.86G>A (p.Trp29Ter)
| gnomAD v4 |
| X | g.46837186G>C | CA413038341 | RP2 | c.86G>C (p.Trp29Ser)
| |
| X | g.46837186G>T | CA413038342 | RP2 | c.86G>T (p.Trp29Leu)
| gnomAD v4 |
| X | g.46837187G>A | CA413038343 | RP2 | c.87G>A (p.Trp29Ter)
| ClinVar dbSNP gnomAD v4 |
| X | g.46837187G>C | CA413038345 | RP2 | c.87G>C (p.Trp29Cys)
| |
| X | g.46837187G>T | CA413038344 | RP2 | c.87G>T (p.Trp29Cys)
| gnomAD v4 |
| X | g.46837188G>A | CA413038347 | RP2 | c.88G>A (p.Asp30Asn)
| |
| X | g.46837188G>C | CA10394170 | RP2 | c.88G>C (p.Asp30His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46837188G= | CA2427726253 | RP2 | c.88G= (p.Asp30=)
| |
| X | g.46837188G>T | CA413038348 | RP2 | c.88G>T (p.Asp30Tyr)
| gnomAD v4 COSMIC |
| X | g.46837189A= | CA2427726254 | RP2 | c.89A= (p.Asp30=)
| |
| X | g.46837189A>C | CA413038351 | RP2 | c.89A>C (p.Asp30Ala)
| |
| X | g.46837189A>G | CA413038352 | RP2 | c.89A>G (p.Asp30Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837189A>T | CA413038353 | RP2 | c.89A>T (p.Asp30Val)
| |
| X | g.46837190T>A | CA413038354 | RP2 | c.90T>A (p.Asp30Glu)
| |
| X | g.46837190T>C | CA516252006 | RP2 | c.90T>C (p.Asp30=)
| |
| X | g.46837190T>G | CA413038355 | RP2 | c.90T>G (p.Asp30Glu)
| |
| X | g.46837191C>A | CA413038356 | RP2 | c.91C>A (p.Gln31Lys)
| |
| X | g.46837191C>G | CA413038357 | RP2 | c.91C>G (p.Gln31Glu)
| |
| X | g.46837191C>T | CA413038359 | RP2 | c.91C>T (p.Gln31Ter)
| ClinVar dbSNP |
| X | g.46837192A>C | CA413038365 | RP2 | c.92A>C (p.Gln31Pro)
| |
| X | g.46837192A>G | CA413038363 | RP2 | c.92A>G (p.Gln31Arg)
| gnomAD v4 |
| X | g.46837192A>T | CA413038361 | RP2 | c.92A>T (p.Gln31Leu)
| |
| X | g.46837193G>A | CA516252018 | RP2 | c.93G>A (p.Gln31=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46837193G>C | CA413038366 | RP2 | c.93G>C (p.Gln31His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.46837193G= | CA2427726255 | RP2 | c.93G= (p.Gln31=)
| |
| X | g.46837193G>T | CA413038368 | RP2 | c.93G>T (p.Gln31His)
| |
| X | g.46837194del | CA2820729979 | RP2 | c.94del (p.Arg32AlafsTer14)
| |
| X | g.46837194C>A | CA413038370 | RP2 | c.94C>A (p.Arg32Ser)
| gnomAD v4 |
| X | g.46837194C>G | CA413038371 | RP2 | c.94C>G (p.Arg32Gly)
| |
| X | g.46837194C>T | CA413038372 | RP2 | c.94C>T (p.Arg32Cys)
| gnomAD v4 |
| X | g.46837195G>A | CA413038373 | RP2 | c.95G>A (p.Arg32His)
| COSMIC |
| X | g.46837195G>C | CA413038374 | RP2 | c.95G>C (p.Arg32Pro)
| |
| X | g.46837195G= | CA2427726256 | RP2 | c.95G= (p.Arg32=)
| |
| X | g.46837195G>T | CA10394171 | RP2 | c.95G>T (p.Arg32Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46837196del | CA2820729980 | RP2 | c.96del (p.Glu33ArgfsTer13)
| |
| X | g.46837196C>A | CA516252028 | RP2 | c.96C>A (p.Arg32=)
| gnomAD v4 |
| X | g.46837196C>G | CA516252033 | RP2 | c.96C>G (p.Arg32=)
| ClinVar gnomAD v4 |
| X | g.46837196C>T | CA516252036 | RP2 | c.96C>T (p.Arg32=)
| ClinVar |
| X | g.46837197G>A | CA413038379 | RP2 | c.97G>A (p.Glu33Lys)
| gnomAD v4 |
| X | g.46837197G>C | CA413038377 | RP2 | c.97G>C (p.Glu33Gln)
| |
| X | g.46837197G>T | CA413038378 | RP2 | c.97G>T (p.Glu33Ter)
| gnomAD v4 |
| X | g.46837198A>C | CA413038380 | RP2 | c.98A>C (p.Glu33Ala)
| |
| X | g.46837198A>G | CA413038381 | RP2 | c.98A>G (p.Glu33Gly)
| |
| X | g.46837198A>T | CA413038382 | RP2 | c.98A>T (p.Glu33Val)
| |
| X | g.46837199G>A | CA516252052 | RP2 | c.99G>A (p.Glu33=)
| |
| X | g.46837199G>C | CA413038384 | RP2 | c.99G>C (p.Glu33Asp)
| |
| X | g.46837199G>T | CA413038385 | RP2 | c.99G>T (p.Glu33Asp)
| gnomAD v4 |
| X | g.46837200A= | CA2427726257 | RP2 | c.100A= (p.Lys34=)
| |
| X | g.46837200A>C | CA413038387 | RP2 | c.100A>C (p.Lys34Gln)
| |
| X | g.46837200A>G | CA10394172 | RP2 | c.100A>G (p.Lys34Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46837200A>T | CA413038388 | RP2 | c.100A>T (p.Lys34Ter)
| |
| X | g.46837200_46837219del | CA2820729981 | RP2 | c.100_102+17del
| |
| X | g.46837200_46837274del | CA2820729982 | RP2 | c.100_102+72del
| |
| X | g.46837201A>C | CA413038389 | RP2 | c.101A>C (p.Lys34Thr)
| |
| X | g.46837201A>G | CA413038390 | RP2 | c.101A>G (p.Lys34Arg)
| gnomAD v4 |
| X | g.46837201A>T | CA413038391 | RP2 | c.101A>T (p.Lys34Met)
| |
| X | g.46837202G>A | CA516252066 | RP2 | c.102G>A (p.Lys34=)
| ClinVar dbSNP gnomAD v2 |
| X | g.46837202G>C | CA413038392 | RP2 | c.102G>C (p.Lys34Asn)
| |
| X | g.46837202G= | CA2427726258 | RP2 | c.102G= (p.Lys34=)
| |
| X | g.46837202G>T | CA413038393 | RP2 | c.102G>T (p.Lys34Asn)
| |
| X | g.46837203G>A | CA413038396 | RP2 | c.102+1G>A (n.102+1G>A)
| |
| X | g.46837203G>C | CA413038397 | RP2 | c.102+1G>C (n.102+1G>C)
| |
| X | g.46837203G= | CA2427726259 | RP2 | c.102+1G= (n.102+1G=)
| |
| X | g.46837203G>T | CA413038398 | RP2 | c.102+1G>T (n.102+1G>T)
| ClinVar dbSNP |
| X | g.46837204T>A | CA413038399 | RP2 | c.102+2T>A (n.102+2T>A)
| |
| X | g.46837204T>C | CA413038401 | RP2 | c.102+2T>C (n.102+2T>C)
| |
| X | g.46837204T>G | CA413038403 | RP2 | c.102+2T>G (n.102+2T>G)
| |
| X | g.46837204_46837207del | CA2740092119 | RP2 | c.102+2_102+5del (n.102+2_102+5del)
| ClinVar |
| X | g.46837205A= | CA2427726260 | RP2 | c.102+3A= (n.102+3A=)
| |
| X | g.46837205A>C | CA658658980 | RP2 | c.102+3A>C (n.102+3A>C)
| ClinVar dbSNP |
| X | g.46837205A>G | CA2695233539 | RP2 | c.102+3A>G (n.102+3A>G)
| |
| X | g.46837205A>T | CA2580101000 | RP2 | c.102+3A>T (n.102+3A>T)
| ClinVar |
| X | g.46837207T>G | CA2693550390 | RP2 | c.102+5T>G (n.102+5T>G)
| gnomAD v4 |
| X | g.46837210_46837241del | CA2693550389 | RP2 | c.102+8_102+39del (n.102+8_102+39del)
| gnomAD v4 |
| X | g.46837208G>A | CA2579593021 | RP2 | c.102+6G>A (n.102+6G>A)
| gnomAD v4 |
| X | g.46837208G>C | CA2693550391 | RP2 | c.102+6G>C (n.102+6G>C)
| gnomAD v4 |
| X | g.46837208_46837210del | CA2820729983 | RP2 | c.102+6_102+8del (n.102+6_102+8del)
| |
| X | g.46837209A>G | CA2693550392 | RP2 | c.102+7A>G (n.102+7A>G)
| gnomAD v4 |
| X | g.46837209A>T | CA2693550393 | RP2 | c.102+7A>T (n.102+7A>T)
| gnomAD v4 |
| X | g.46837210A>G | CA2693550394 | RP2 | c.102+8A>G (n.102+8A>G)
| gnomAD v4 |
| X | g.46837212G>A | CA2693550395 | RP2 | c.102+10G>A (n.102+10G>A)
| gnomAD v4 |
| X | g.46837212G>C | CA2820729984 | RP2 | c.102+10G>C (n.102+10G>C)
| |
| X | g.46837213T>A | CA2820729985 | RP2 | c.102+11T>A (n.102+11T>A)
| |
| X | g.46837214C>A | CA2693550396 | RP2 | c.102+12C>A (n.102+12C>A)
| gnomAD v4 |
| X | g.46837214C>T | CA2693550397 | RP2 | c.102+12C>T (n.102+12C>T)
| gnomAD v4 |
