X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013606_25013640del | CA2580100528 | ARX | c.357_391del (p.Gly120AsnfsTer?)
| ClinVar |
X | g.25013627_25013674del | CA2693353732 | ARX | c.323_370del (p.Ala108_Gly123del)
| gnomAD v4 |
X | g.25013626_25013660delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | CA2420209358 | ARX | c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG (p.Ala112=)
| |
X | g.25013631_25013664del | CA213236 | ARX | c.335_368del (p.Ala112GlyfsTer?)
| ClinVar dbSNP |
X | g.25013635A>C | CA515947920 | ARX | c.360T>G (p.Gly120=)
| |
X | g.25013635A>G | CA515947921 | ARX | c.360T>C (p.Gly120=)
| gnomAD v4 |
X | g.25013635A>T | CA515947922 | ARX | c.360T>A (p.Gly120=)
| |
X | g.25013636C>A | CA412613340 | ARX | c.359G>T (p.Gly120Val)
| gnomAD v4 |
X | g.25013636C= | CA2420209363 | ARX | c.359G= (p.Gly120=)
| |
X | g.25013636C>G | CA412613341 | ARX | c.359G>C (p.Gly120Ala)
| |
X | g.25013636C>T | CA412613342 | ARX | c.359G>A (p.Gly120Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013637C>A | CA412613343 | ARX | c.358G>T (p.Gly120Cys)
| |
X | g.25013637C>G | CA412613344 | ARX | c.358G>C (p.Gly120Arg)
| |
X | g.25013637C>T | CA412613345 | ARX | c.358G>A (p.Gly120Ser)
| |
X | g.25013638C>A | CA515947925 | ARX | c.357G>T (p.Ala119=)
| |
X | g.25013638C= | CA2420209364 | ARX | c.357G= (p.Ala119=)
| |
X | g.25013638C>G | CA515947926 | ARX | c.357G>C (p.Ala119=)
| |
X | g.25013638C>T | CA515947928 | ARX | c.357G>A (p.Ala119=)
| dbSNP gnomAD v4 |
X | g.25013639G>A | CA412613346 | ARX | c.356C>T (p.Ala119Val)
| gnomAD v4 |
X | g.25013639G>C | CA412613347 | ARX | c.356C>G (p.Ala119Gly)
| |
X | g.25013639G>T | CA412613348 | ARX | c.356C>A (p.Ala119Glu)
| gnomAD v4 |
X | g.25013647_25013652dup | CA2420209365 | ARX | c.351_356dup (p.Ala119_Gly120insThrAla)
| ClinVar dbSNP |
X | g.25013643_25013657dup | CA874147875 | ARX | c.342_356dup (p.Ala119_Gly120insAlaThrAlaThrAla)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013640C>A | CA412613351 | ARX | c.355G>T (p.Ala119Ser)
| |
X | g.25013640C>G | CA412613350 | ARX | c.355G>C (p.Ala119Pro)
| |
X | g.25013640C>T | CA412613349 | ARX | c.355G>A (p.Ala119Thr)
| gnomAD v4 |
X | g.25013641C>A | CA515947933 | ARX | c.354G>T (p.Thr118=)
| gnomAD v4 |
X | g.25013641C= | CA2420209366 | ARX | c.354G= (p.Thr118=)
| |
X | g.25013641C>G | CA515947934 | ARX | c.354G>C (p.Thr118=)
| |
X | g.25013641C>T | CA327733058 | ARX | c.354G>A (p.Thr118=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013642G>A | CA412613352 | ARX | c.353C>T (p.Thr118Met)
| gnomAD v4 |
X | g.25013642G>C | CA412613353 | ARX | c.353C>G (p.Thr118Arg)
| |
X | g.25013642G>T | CA412613354 | ARX | c.353C>A (p.Thr118Lys)
| gnomAD v4 |
X | g.25013643T>A | CA412613355 | ARX | c.352A>T (p.Thr118Ser)
| |
X | g.25013643T>C | CA412613356 | ARX | c.352A>G (p.Thr118Ala)
| |
X | g.25013643T>G | CA412613357 | ARX | c.352A>C (p.Thr118Pro)
| |
X | g.25013644G>A | CA515947937 | ARX | c.351C>T (p.Ala117=)
| gnomAD v4 |
X | g.25013644G>C | CA515947938 | ARX | c.351C>G (p.Ala117=)
| |
X | g.25013644G= | CA2420209367 | ARX | c.351C= (p.Ala117=)
| |
X | g.25013644G>T | CA515947939 | ARX | c.351C>A (p.Ala117=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013645G>A | CA412613358 | ARX | c.350C>T (p.Ala117Val)
| gnomAD v4 |
X | g.25013645G>C | CA412613359 | ARX | c.350C>G (p.Ala117Gly)
| |
X | g.25013645G>T | CA412613360 | ARX | c.350C>A (p.Ala117Asp)
| gnomAD v4 |
X | g.25013646C>A | CA412613361 | ARX | c.349G>T (p.Ala117Ser)
| |
X | g.25013646C= | CA2420209368 | ARX | c.349G= (p.Ala117=)
| |
X | g.25013646C>G | CA412613362 | ARX | c.349G>C (p.Ala117Pro)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013646C>T | CA412613363 | ARX | c.349G>A (p.Ala117Thr)
| gnomAD v4 |
X | g.25013647C>A | CA515947952 | ARX | c.348G>T (p.Thr116=)
| |
X | g.25013647C= | CA2420209369 | ARX | c.348G= (p.Thr116=)
| |
X | g.25013647C>G | CA515947954 | ARX | c.348G>C (p.Thr116=)
| |
X | g.25013647C>T | CA515947955 | ARX | c.348G>A (p.Thr116=)
| ClinVar dbSNP |
X | g.25013648G>A | CA412613366 | ARX | c.347C>T (p.Thr116Met)
| ClinVar gnomAD v4 |
X | g.25013648G>C | CA412613365 | ARX | c.347C>G (p.Thr116Arg)
| |
X | g.25013648G= | CA2420209370 | ARX | c.347C= (p.Thr116=)
| |
X | g.25013648G>T | CA412613364 | ARX | c.347C>A (p.Thr116Lys)
| dbSNP |
X | g.25013649T>A | CA412613367 | ARX | c.346A>T (p.Thr116Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013649T>C | CA412613369 | ARX | c.346A>G (p.Thr116Ala)
| ClinVar dbSNP gnomAD v4 |
X | g.25013649T>G | CA412613368 | ARX | c.346A>C (p.Thr116Pro)
| dbSNP |
X | g.25013649T= | CA2420209371 | ARX | c.346A= (p.Thr116=)
| |
X | g.25013649_25013650delinsCC | CA2573158502 | ARX | c.345_346delinsGG (p.Thr116Ala)
| ClinVar dbSNP |
X | g.25013650G>A | CA515947961 | ARX | c.345C>T (p.Ala115=)
| gnomAD v4 |
X | g.25013650G>C | CA515947962 | ARX | c.345C>G (p.Ala115=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013650G>T | CA515947963 | ARX | c.345C>A (p.Ala115=)
| |
X | g.25013650_25013691dup | CA16621352 | ARX | c.304_345dup (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013651G>A | CA412613370 | ARX | c.344C>T (p.Ala115Val)
| gnomAD v4 |
X | g.25013651G>C | CA412613372 | ARX | c.344C>G (p.Ala115Gly)
| |
X | g.25013651G>T | CA412613371 | ARX | c.344C>A (p.Ala115Asp)
| |
X | g.25013652C>A | CA412613373 | ARX | c.343G>T (p.Ala115Ser)
| gnomAD v4 |
X | g.25013652C>G | CA412613375 | ARX | c.343G>C (p.Ala115Pro)
| |
X | g.25013652C>T | CA412613374 | ARX | c.343G>A (p.Ala115Thr)
| gnomAD v4 |
X | g.25013653G>A | CA515947967 | ARX | c.342C>T (p.Ala114=)
| gnomAD v4 |
X | g.25013653G>C | CA515947971 | ARX | c.342C>G (p.Ala114=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013653G= | CA2420209376 | ARX | c.342C= (p.Ala114=)
| |
X | g.25013653G>T | CA515947973 | ARX | c.342C>A (p.Ala114=)
| |
X | g.25013653_25013659delinsGGCCGCT | CA2420209377 | ARX | c.336_342delinsAGCGGCC (p.Ala112=)
| |
X | g.25013653_25013662delinsGGCCGCTGCC | CA2420209373 | ARX | c.333_342delinsGGCAGCGGCC (p.Ala111=)
| |
X | g.25013653_25013665delinsGGCCGCTGCCGCC | CA2420209374 | ARX | c.330_342delinsGGCGGCAGCGGCC (p.Ala110=)
| |
X | g.25013653_25013674delinsGGCCGCTGCCGCCGCCGCCGCC | CA2420209372 | ARX | c.321_342delinsGGCGGCGGCGGCGGCAGCGGCC (p.Ala107=)
| |
X | g.25013653_25013680delinsGGCCGCTGCCGCCGCCGCCGCCGCCGCC | CA2420209375 | ARX | c.315_342delinsGGCGGCGGCGGCGGCGGCGGCAGCGGCC (p.Ala105=)
| |
X | g.25013653_25013686delinsGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC | CA2420209378 | ARX | c.309_342delinsGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCC (p.Ala103=)
| |
X | g.25013654G>A | CA412613376 | ARX | c.341C>T (p.Ala114Val)
| gnomAD v4 |
X | g.25013654G>C | CA412613377 | ARX | c.341C>G (p.Ala114Gly)
| |
X | g.25013654G>T | CA412613378 | ARX | c.341C>A (p.Ala114Asp)
| |
X | g.25013658_25013659insCGCCGCCGC | CA2420209380 | ARX | c.341_342insGGCGGCGGC (p.Ala114_Ala115insAlaAlaAla)
| dbSNP |
X | g.25013659_25013664dup | CA2693353733 | ARX | c.336_341dup (p.Ala114_Ala115insAlaAla)
| gnomAD v4 |
X | g.25013659_25013664del | CA874147897 | ARX | c.336_341del (p.Ala113_Ala114del)
| ClinVar dbSNP |
X | g.25013659_25013667del | CA2420209381 | ARX | c.333_341del (p.Ala112_Ala114del)
| dbSNP |
X | g.25013659_25013670del | CA1131757349 | ARX | c.330_341del (p.Ala111_Ala114del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013659_25013676del | CA2573158503 | ARX | c.324_341del (p.Ala109_Ala114del)
| ClinVar dbSNP |
X | g.25013659_25013679del | CA658799628 | ARX | c.321_341del (p.Ala108_Ala114del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013659_25013685del | CA2420209379 | ARX | c.315_341del (p.Ala106_Ala114del)
| dbSNP |
X | g.25013665_25013697dup | CA891843652 | ARX | c.309_341dup (p.Ala114_Ala115insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013665_25013697del | CA874147898 | ARX | c.309_341del (p.Ala104_Ala114del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013655C>A | CA412613379 | ARX | c.340G>T (p.Ala114Ser)
| gnomAD v4 |
X | g.25013655C>G | CA412613380 | ARX | c.340G>C (p.Ala114Pro)
| |
X | g.25013655C>T | CA412613381 | ARX | c.340G>A (p.Ala114Thr)
| gnomAD v4 |
X | g.25013656C>A | CA515947977 | ARX | c.339G>T (p.Ala113=)
| gnomAD v4 |
X | g.25013656C>G | CA515947978 | ARX | c.339G>C (p.Ala113=)
| |
X | g.25013656C>T | CA515947980 | ARX | c.339G>A (p.Ala113=)
| |
X | g.25013656_25013659delinsCGCT | CA2420209382 | ARX | c.336_339delinsAGCG (p.Ala112=)
| |
X | g.25013657G>A | CA412613382 | ARX | c.338C>T (p.Ala113Val)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013657G>C | CA412613383 | ARX | c.338C>G (p.Ala113Gly)
| |
X | g.25013657G= | CA2420209384 | ARX | c.338C= (p.Ala113=)
| |
X | g.25013657G>T | CA412613384 | ARX | c.338C>A (p.Ala113Glu)
| gnomAD v4 |
X | g.25013659_25013661dup | CA2693353734 | ARX | c.336_338dup (p.Ala113_Ala114insAla)
| ClinVar gnomAD v4 |
X | g.25013659_25013661del | CA2420209383 | ARX | c.336_338del (p.Ala113del)
| ClinVar dbSNP |
X | g.25013658C>A | CA412613385 | ARX | c.337G>T (p.Ala113Ser)
| gnomAD v4 |
X | g.25013658C>G | CA412613387 | ARX | c.337G>C (p.Ala113Pro)
| |
X | g.25013658C>T | CA412613386 | ARX | c.337G>A (p.Ala113Thr)
| |
X | g.25013658_25013659insGCC | CA2499226597 | ARX | c.337_338insGCG (p.Ala112_Ala113insGly)
| ClinVar dbSNP |
X | g.25013659T>A | CA515947990 | ARX | c.336A>T (p.Ala112=)
| |
X | g.25013659T>C | CA241829 | ARX | c.336A>G (p.Ala112=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013659T>G | CA515947989 | ARX | c.336A>C (p.Ala112=)
| |
X | g.25013659T= | CA2420209386 | ARX | c.336A= (p.Ala112=)
| |
X | g.25013659_25013677delinsTGCCGCCGCCGCCGCCGCC | CA2420209385 | ARX | c.318_336delinsGGCGGCGGCGGCGGCGGCA (p.Ala106=)
| |
X | g.25013660G>A | CA412613390 | ARX | c.335C>T (p.Ala112Val)
| gnomAD v4 |
X | g.25013660G>C | CA412613389 | ARX | c.335C>G (p.Ala112Gly)
| |
X | g.25013660G>T | CA412613388 | ARX | c.335C>A (p.Ala112Glu)
| |
X | g.25013689_25013691dup | CA171154 | ARX | c.333_335dup (p.Ala112_Ala113insAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013686_25013691dup | CA16621353 | ARX | c.330_335dup (p.Ala112_Ala113insAlaAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013683_25013691dup | CA241827 | ARX | c.327_335dup (p.Ala112_Ala113insAlaAlaAla)
| ClinVar dbSNP gnomAD v4 |
X | g.25013680_25013691dup | CA920402032 | ARX | c.324_335dup (p.Ala112_Ala113insAlaAlaAlaAla)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013677_25013691dup | CA2580616915 | ARX | c.321_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013674_25013691dup | CA913187407 | ARX | c.318_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAlaAla)
| |
X | g.25013671_25013691dup | CA213330 | ARX | c.315_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013668_25013691dup | CA213320 | ARX | c.312_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013689_25013691del | CA16616470 | ARX | c.333_335del (p.Ala112del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013686_25013691del | CA171152 | ARX | c.330_335del (p.Ala111_Ala112del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013683_25013691del | CA641364635 | ARX | c.327_335del (p.Ala110_Ala112del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013680_25013691del | CA241825 | ARX | c.324_335del (p.Ala109_Ala112del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013677_25013691del | CA874147966 | ARX | c.321_335del (p.Ala108_Ala112del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013674_25013691del | CA658656857 | ARX | c.318_335del (p.Ala107_Ala112del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013671_25013691del | CA2580616914 | ARX | c.315_335del (p.Ala106_Ala112del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013668_25013691del | CA2569327553 | ARX | c.312_335del (p.Ala105_Ala112del)
| |
X | g.25013661C>A | CA412613391 | ARX | c.334G>T (p.Ala112Ser)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013661C= | CA2420209387 | ARX | c.334G= (p.Ala112=)
| |
X | g.25013661C>G | CA412613392 | ARX | c.334G>C (p.Ala112Pro)
| |
X | g.25013661C>T | CA412613393 | ARX | c.334G>A (p.Ala112Thr)
| gnomAD v4 |
X | g.25013662C>A | CA515948014 | ARX | c.333G>T (p.Ala111=)
| ClinVar dbSNP |
X | g.25013662C= | CA2420209388 | ARX | c.333G= (p.Ala111=)
| |
X | g.25013662C>G | CA515948016 | ARX | c.333G>C (p.Ala111=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013662C>T | CA515948019 | ARX | c.333G>A (p.Ala111=)
| gnomAD v4 |
X | g.25013663G>A | CA412613394 | ARX | c.332C>T (p.Ala111Val)
| gnomAD v4 |
X | g.25013663G>C | CA412613396 | ARX | c.332C>G (p.Ala111Gly)
| gnomAD v4 |
X | g.25013663G>T | CA412613395 | ARX | c.332C>A (p.Ala111Glu)
| |
X | g.25013664_25013665insTGC | CA2516781180 | ARX | c.332_333insAGC (p.Ala111_Ala112insAla)
| |
X | g.25013664C>A | CA412613397 | ARX | c.331G>T (p.Ala111Ser)
| gnomAD v4 |
X | g.25013664C>G | CA412613398 | ARX | c.331G>C (p.Ala111Pro)
| |
X | g.25013664C>T | CA412613399 | ARX | c.331G>A (p.Ala111Thr)
| gnomAD v4 |
X | g.25013665C>A | CA515948022 | ARX | c.330G>T (p.Ala110=)
| |
X | g.25013665C= | CA2420209389 | ARX | c.330G= (p.Ala110=)
| |
X | g.25013665C>G | CA515948024 | ARX | c.330G>C (p.Ala110=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013665C>T | CA515948026 | ARX | c.330G>A (p.Ala110=)
| dbSNP gnomAD v4 |
X | g.25013666G>A | CA412613400 | ARX | c.329C>T (p.Ala110Val)
| gnomAD v4 |
X | g.25013666G>C | CA412613401 | ARX | c.329C>G (p.Ala110Gly)
| |
X | g.25013666G>T | CA412613402 | ARX | c.329C>A (p.Ala110Glu)
| gnomAD v4 |
X | g.25013667C>A | CA412613403 | ARX | c.328G>T (p.Ala110Ser)
| |
X | g.25013667C>G | CA412613404 | ARX | c.328G>C (p.Ala110Pro)
| |
X | g.25013667C>T | CA412613405 | ARX | c.328G>A (p.Ala110Thr)
| gnomAD v4 |
X | g.25013668C>A | CA515948033 | ARX | c.327G>T (p.Ala109=)
| gnomAD v4 |
X | g.25013668C= | CA2420209390 | ARX | c.327G= (p.Ala109=)
| |
X | g.25013668C>G | CA515948034 | ARX | c.327G>C (p.Ala109=)
| |
X | g.25013668C>T | CA515948035 | ARX | c.327G>A (p.Ala109=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013669G>A | CA412613406 | ARX | c.326C>T (p.Ala109Val)
| gnomAD v4 |
X | g.25013669G>C | CA412613407 | ARX | c.326C>G (p.Ala109Gly)
| |
X | g.25013669G>T | CA412613408 | ARX | c.326C>A (p.Ala109Glu)
| gnomAD v4 |
X | g.25013674_25013697dup | CA16621354 | ARX | c.303_326dup (p.Ala109_Ala110insAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013670C>A | CA412613409 | ARX | c.325G>T (p.Ala109Ser)
| |
X | g.25013670C>G | CA412613411 | ARX | c.325G>C (p.Ala109Pro)
| |
X | g.25013670C>T | CA412613410 | ARX | c.325G>A (p.Ala109Thr)
| gnomAD v4 |
X | g.25013671C>A | CA515948038 | ARX | c.324G>T (p.Ala108=)
| gnomAD v4 |
X | g.25013671C= | CA2420209391 | ARX | c.324G= (p.Ala108=)
| |
X | g.25013671C>G | CA515948041 | ARX | c.324G>C (p.Ala108=)
| |
X | g.25013671C>T | CA515948044 | ARX | c.324G>A (p.Ala108=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013672G>A | CA412613412 | ARX | c.323C>T (p.Ala108Val)
| gnomAD v4 |
X | g.25013672G>C | CA412613413 | ARX | c.323C>G (p.Ala108Gly)
| |
X | g.25013672G>T | CA412613414 | ARX | c.323C>A (p.Ala108Glu)
| gnomAD v4 |
X | g.25013677_25013697dup | CA2499226598 | ARX | c.303_323dup (p.Ala108_Ala109insAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013677_25013697del | CA2579576424 | ARX | c.303_323del (p.Ala102_Ala108del)
| |
X | g.25013673C>A | CA412613415 | ARX | c.322G>T (p.Ala108Ser)
| |
X | g.25013673C>G | CA412613416 | ARX | c.322G>C (p.Ala108Pro)
| |
X | g.25013673C>T | CA412613417 | ARX | c.322G>A (p.Ala108Thr)
| gnomAD v4 |
X | g.25013674C>A | CA515948052 | ARX | c.321G>T (p.Ala107=)
| |
X | g.25013674C= | CA2420209392 | ARX | c.321G= (p.Ala107=)
| |
X | g.25013674C>G | CA515948054 | ARX | c.321G>C (p.Ala107=)
| |
X | g.25013674C>T | CA515948055 | ARX | c.321G>A (p.Ala107=)
| dbSNP gnomAD v4 |
X | g.25013675G>A | CA412613418 | ARX | c.320C>T (p.Ala107Val)
| gnomAD v4 |
X | g.25013675G>C | CA412613419 | ARX | c.320C>G (p.Ala107Gly)
| |
X | g.25013675G>T | CA412613420 | ARX | c.320C>A (p.Ala107Glu)
| |
X | g.25013676C>A | CA412613422 | ARX | c.319G>T (p.Ala107Ser)
| |
X | g.25013676C= | CA2420209393 | ARX | c.319G= (p.Ala107=)
| |
X | g.25013676C>G | CA412613423 | ARX | c.319G>C (p.Ala107Pro)
| |
X | g.25013676C>T | CA412613421 | ARX | c.319G>A (p.Ala107Thr)
| dbSNP gnomAD v4 |
X | g.25013677C>A | CA515948064 | ARX | c.318G>T (p.Ala106=)
| |
X | g.25013677C= | CA2420209395 | ARX | c.318G= (p.Ala106=)
| |
X | g.25013677C>G | CA327733059 | ARX | c.318G>C (p.Ala106=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013677C>T | CA515948065 | ARX | c.318G>A (p.Ala106=)
| dbSNP gnomAD v4 |
X | g.25013677_25013692delinsCGCCGCCGCCGCCGCT | CA2420209394 | ARX | c.303_318delinsAGCGGCGGCGGCGGCG (p.Ala101=)
| |
X | g.25013678G>A | CA412613426 | ARX | c.317C>T (p.Ala106Val)
| gnomAD v4 |
X | g.25013678G>C | CA412613424 | ARX | c.317C>G (p.Ala106Gly)
| |
X | g.25013678G>T | CA412613425 | ARX | c.317C>A (p.Ala106Glu)
| |
X | g.25013683_25013697del | CA874148013 | ARX | c.303_317del (p.Ala102_Ala106del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013679C>A | CA412613427 | ARX | c.316G>T (p.Ala106Ser)
| |
X | g.25013679C= | CA2420209396 | ARX | c.316G= (p.Ala106=)
| |
X | g.25013679C>G | CA412613428 | ARX | c.316G>C (p.Ala106Pro)
| |
X | g.25013679C>T | CA412613429 | ARX | c.316G>A (p.Ala106Thr)
| dbSNP gnomAD v4 |
X | g.25013680C>A | CA515948072 | ARX | c.315G>T (p.Ala105=)
| |
X | g.25013680C= | CA2420209398 | ARX | c.315G= (p.Ala105=)
| |
X | g.25013680C>G | CA515948075 | ARX | c.315G>C (p.Ala105=)
| |
X | g.25013680C>T | CA515948076 | ARX | c.315G>A (p.Ala105=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013684_25013685insTCGCCG | CA641364636 | ARX | c.315_316insACGGCG (p.Ala105_Ala106insThrAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013680_25013692delinsCGCCGCCGCCGCT | CA2420209397 | ARX | c.303_315delinsAGCGGCGGCGGCG (p.Ala101=)
| |
X | g.25013681G>A | CA412613432 | ARX | c.314C>T (p.Ala105Val)
| gnomAD v4 |
X | g.25013681G>C | CA412613431 | ARX | c.314C>G (p.Ala105Gly)
| |
X | g.25013681G>T | CA412613430 | ARX | c.314C>A (p.Ala105Glu)
| |
X | g.25013686_25013697dup | CA2420209399 | ARX | c.303_314dup (p.Ala105_Ala106insAlaAlaAlaAla)
| dbSNP |
X | g.25013686_25013697del | CA641364637 | ARX | c.303_314del (p.Ala102_Ala105del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013682C>A | CA412613433 | ARX | c.313G>T (p.Ala105Ser)
| |
X | g.25013682C>G | CA412613434 | ARX | c.313G>C (p.Ala105Pro)
| |
X | g.25013682C>T | CA412613435 | ARX | c.313G>A (p.Ala105Thr)
| |
X | g.25013683C>A | CA515948080 | ARX | c.312G>T (p.Ala104=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013683C= | CA2420209400 | ARX | c.312G= (p.Ala104=)
| |
X | g.25013683C>G | CA515948081 | ARX | c.312G>C (p.Ala104=)
| ClinVar |
X | g.25013683C>T | CA515948082 | ARX | c.312G>A (p.Ala104=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013684G>A | CA412613436 | ARX | c.311C>T (p.Ala104Val)
| ClinVar gnomAD v4 |
X | g.25013684G>C | CA412613437 | ARX | c.311C>G (p.Ala104Gly)
| |
X | g.25013684G>T | CA412613438 | ARX | c.311C>A (p.Ala104Glu)
| gnomAD v4 |
X | g.25013689_25013697dup | CA2693353735 | ARX | c.303_311dup (p.Ala104_Ala105insAlaAlaAla)
| gnomAD v4 |
X | g.25013689_25013697del | CA2740092072 | ARX | c.303_311del (p.Ala102_Ala104del)
| ClinVar |
X | g.25013685C>A | CA412613439 | ARX | c.310G>T (p.Ala104Ser)
| |
X | g.25013685C>G | CA412613441 | ARX | c.310G>C (p.Ala104Pro)
| |
X | g.25013685C>T | CA412613440 | ARX | c.310G>A (p.Ala104Thr)
| gnomAD v4 |
X | g.25013686C>A | CA515948088 | ARX | c.309G>T (p.Ala103=)
| gnomAD v4 |
X | g.25013686C= | CA2420209402 | ARX | c.309G= (p.Ala103=)
| |
X | g.25013686C>G | CA515948089 | ARX | c.309G>C (p.Ala103=)
| |
X | g.25013686C>T | CA515948090 | ARX | c.309G>A (p.Ala103=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013686_25013692delinsCGCCGCT | CA2420209401 | ARX | c.303_309delinsAGCGGCG (p.Ala101=)
| |
X | g.25013687G>A | CA412613442 | ARX | c.308C>T (p.Ala103Val)
| gnomAD v4 |
X | g.25013687G>C | CA412613443 | ARX | c.308C>G (p.Ala103Gly)
| |
X | g.25013687G>T | CA412613444 | ARX | c.308C>A (p.Ala103Glu)
| gnomAD v4 |
X | g.25013692_25013697dup | CA641364638 | ARX | c.303_308dup (p.Ala103_Ala104insAlaAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013692_25013697del | CA874148032 | ARX | c.303_308del (p.Ala102_Ala103del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013688C>A | CA412613445 | ARX | c.307G>T (p.Ala103Ser)
| |
X | g.25013688C>G | CA412613446 | ARX | c.307G>C (p.Ala103Pro)
| |
X | g.25013688C>T | CA412613447 | ARX | c.307G>A (p.Ala103Thr)
| |
X | g.25013689C>A | CA171150 | ARX | c.306G>T (p.Ala102=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013689C= | CA2420209403 | ARX | c.306G= (p.Ala102=)
| |
X | g.25013689C>G | CA515948094 | ARX | c.306G>C (p.Ala102=)
| ClinVar dbSNP |
X | g.25013689C>T | CA515948096 | ARX | c.306G>A (p.Ala102=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013689_25013692delinsCGCT | CA2420209404 | ARX | c.303_306delinsAGCG (p.Ala101=)
| |
X | g.25013690G>A | CA412613448 | ARX | c.305C>T (p.Ala102Val)
| gnomAD v4 |
X | g.25013690G>C | CA412613449 | ARX | c.305C>G (p.Ala102Gly)
| |
X | g.25013690G= | CA2420209405 | ARX | c.305C= (p.Ala102=)
| |
X | g.25013690G>T | CA412613450 | ARX | c.305C>A (p.Ala102Glu)
| gnomAD v4 |
X | g.25013692_25013694del | CA2420209406 | ARX | c.303_305del (p.Ala102del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013691C>A | CA412613453 | ARX | c.304G>T (p.Ala102Ser)
| gnomAD v4 |
X | g.25013691C>G | CA412613452 | ARX | c.304G>C (p.Ala102Pro)
| |
X | g.25013691C>T | CA412613451 | ARX | c.304G>A (p.Ala102Thr)
| gnomAD v4 |
X | g.25013692T>A | CA515948101 | ARX | c.303A>T (p.Ala101=)
| |
X | g.25013692T>C | CA207126 | ARX | c.303A>G (p.Ala101=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013692T>G | CA515948106 | ARX | c.303A>C (p.Ala101=)
| ClinVar gnomAD v4 |
X | g.25013692T= | CA2420209407 | ARX | c.303A= (p.Ala101=)
| |
X | g.25013693G>A | CA412613454 | ARX | c.302C>T (p.Ala101Val)
| gnomAD v4 |
X | g.25013693G>C | CA412613455 | ARX | c.302C>G (p.Ala101Gly)
| |
X | g.25013693G>T | CA412613456 | ARX | c.302C>A (p.Ala101Glu)
| gnomAD v4 |
X | g.25013694C>A | CA412613457 | ARX | c.301G>T (p.Ala101Ser)
| gnomAD v4 |
X | g.25013694C>G | CA412613458 | ARX | c.301G>C (p.Ala101Pro)
| |
X | g.25013694C>T | CA412613459 | ARX | c.301G>A (p.Ala101Thr)
| gnomAD v4 |
X | g.25013695C>A | CA515948110 | ARX | c.300G>T (p.Ala100=)
| gnomAD v4 |
X | g.25013695C= | CA2420209408 | ARX | c.300G= (p.Ala100=)
| |
X | g.25013695C>G | CA515948112 | ARX | c.300G>C (p.Ala100=)
| ClinVar gnomAD v4 |
X | g.25013695C>T | CA205423 | ARX | c.300G>A (p.Ala100=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013696G>A | CA412613460 | ARX | c.299C>T (p.Ala100Val)
| gnomAD v4 |
X | g.25013696G>C | CA412613461 | ARX | c.299C>G (p.Ala100Gly)
| |
X | g.25013696G>T | CA412613462 | ARX | c.299C>A (p.Ala100Glu)
| gnomAD v4 |
X | g.25013697C>A | CA412613463 | ARX | c.298G>T (p.Ala100Ser)
| gnomAD v4 |
X | g.25013697C>G | CA412613464 | ARX | c.298G>C (p.Ala100Pro)
| |
X | g.25013697C>T | CA412613465 | ARX | c.298G>A (p.Ala100Thr)
| gnomAD v4 |
X | g.25013698A>C | CA515948123 | ARX | c.297T>G (p.Gly99=)
| |
X | g.25013698A>G | CA515948122 | ARX | c.297T>C (p.Gly99=)
| gnomAD v4 |
X | g.25013698A>T | CA515948121 | ARX | c.297T>A (p.Gly99=)
| |
X | g.25013699C>A | CA412613466 | ARX | c.296G>T (p.Gly99Val)
| gnomAD v4 |
X | g.25013699C>G | CA412613468 | ARX | c.296G>C (p.Gly99Ala)
| |
X | g.25013699C>T | CA412613467 | ARX | c.296G>A (p.Gly99Asp)
| |
X | g.25013701del | CA2693353736 | ARX | c.296del (p.Gly99ValfsTer?)
| gnomAD v4 |
X | g.25013700C>A | CA412613469 | ARX | c.295G>T (p.Gly99Cys)
| ClinVar gnomAD v4 |
X | g.25013700C= | CA2420209409 | ARX | c.295G= (p.Gly99=)
| |
X | g.25013700C>G | CA412613470 | ARX | c.295G>C (p.Gly99Arg)
| |
X | g.25013700C>T | CA412613471 | ARX | c.295G>A (p.Gly99Ser)
| dbSNP |
X | g.25013701C>A | CA412613472 | ARX | c.294G>T (p.Gln98His)
| |
X | g.25013701C>G | CA412613473 | ARX | c.294G>C (p.Gln98His)
| |
X | g.25013701C>T | CA515948126 | ARX | c.294G>A (p.Gln98=)
| ClinVar gnomAD v4 |
X | g.25013702T>A | CA412613474 | ARX | c.293A>T (p.Gln98Leu)
| gnomAD v4 |
X | g.25013702T>C | CA412613475 | ARX | c.293A>G (p.Gln98Arg)
| gnomAD v4 |
X | g.25013702T>G | CA412613476 | ARX | c.293A>C (p.Gln98Pro)
| |
X | g.25013703G>A | CA412613477 | ARX | c.292C>T (p.Gln98Ter)
| gnomAD v4 |
X | g.25013703G>C | CA412613478 | ARX | c.292C>G (p.Gln98Glu)
| |
X | g.25013703G>T | CA412613479 | ARX | c.292C>A (p.Gln98Lys)
| gnomAD v4 |
X | g.25013704A>C | CA515948129 | ARX | c.291T>G (p.Leu97=)
| |
X | g.25013704A>G | CA515948133 | ARX | c.291T>C (p.Leu97=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013704A>T | CA515948131 | ARX | c.291T>A (p.Leu97=)
| |
X | g.25013705del | CA2693353737 | ARX | c.291del (p.Gln98ArgfsTer?)
| gnomAD v4 |
X | g.25013705A= | CA2420209410 | ARX | c.290T= (p.Leu97=)
| |
X | g.25013705A>C | CA412613481 | ARX | c.290T>G (p.Leu97Arg)
| |
X | g.25013705A>G | CA412613482 | ARX | c.290T>C (p.Leu97Pro)
| dbSNP gnomAD v4 |
X | g.25013705A>T | CA412613480 | ARX | c.290T>A (p.Leu97His)
| gnomAD v4 |
X | g.25013706G>A | CA412613483 | ARX | c.289C>T (p.Leu97Phe)
| |
X | g.25013706G>C | CA412613484 | ARX | c.289C>G (p.Leu97Val)
| |
X | g.25013706G>T | CA412613485 | ARX | c.289C>A (p.Leu97Ile)
| |
X | g.25013707G>A | CA515948137 | ARX | c.288C>T (p.Leu96=)
| gnomAD v4 |
X | g.25013707G>C | CA515948138 | ARX | c.288C>G (p.Leu96=)
| |
X | g.25013707G>T | CA515948139 | ARX | c.288C>A (p.Leu96=)
| |
X | g.25013708A>C | CA412613486 | ARX | c.287T>G (p.Leu96Arg)
| |
X | g.25013708A>G | CA412613487 | ARX | c.287T>C (p.Leu96Pro)
| gnomAD v4 |
X | g.25013708A>T | CA412613488 | ARX | c.287T>A (p.Leu96His)
| gnomAD v4 |
X | g.25013709G>A | CA412613491 | ARX | c.286C>T (p.Leu96Phe)
| |
X | g.25013709G>C | CA412613489 | ARX | c.286C>G (p.Leu96Val)
| |
X | g.25013709G>T | CA412613490 | ARX | c.286C>A (p.Leu96Ile)
| gnomAD v4 |
X | g.25013710G>A | CA515948143 | ARX | c.285C>T (p.Arg95=)
| gnomAD v4 |
X | g.25013710G>C | CA515948144 | ARX | c.285C>G (p.Arg95=)
| |
X | g.25013710G>T | CA515948146 | ARX | c.285C>A (p.Arg95=)
| |
X | g.25013711C>A | CA412613492 | ARX | c.284G>T (p.Arg95Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013711C= | CA2420209411 | ARX | c.284G= (p.Arg95=)
| |
X | g.25013711C>G | CA412613493 | ARX | c.284G>C (p.Arg95Pro)
| |
X | g.25013711C>T | CA412613494 | ARX | c.284G>A (p.Arg95His)
| gnomAD v4 |
X | g.25013712G>A | CA412613495 | ARX | c.283C>T (p.Arg95Cys)
| gnomAD v4 |
X | g.25013712G>C | CA412613496 | ARX | c.283C>G (p.Arg95Gly)
| gnomAD v4 |
X | g.25013712G>T | CA412613497 | ARX | c.283C>A (p.Arg95Ser)
| gnomAD v4 |
X | g.25013713G>A | CA515749079 | ARX | c.282C>T (p.Gly94=)
| gnomAD v4 |
X | g.25013713G>C | CA515749081 | ARX | c.282C>G (p.Gly94=)
| |
X | g.25013713G>T | CA515749083 | ARX | c.282C>A (p.Gly94=)
| gnomAD v4 |
X | g.25013714C>A | CA412613498 | ARX | c.281G>T (p.Gly94Val)
| gnomAD v4 |
X | g.25013714C>G | CA412613500 | ARX | c.281G>C (p.Gly94Ala)
| dbSNP |
X | g.25013714C>T | CA412613499 | ARX | c.281G>A (p.Gly94Asp)
| gnomAD v4 |
X | g.25013718del | CA2550038879 | ARX | c.281del (p.Gly94AlafsTer?)
| gnomAD v4 |
X | g.25013715C>A | CA412613501 | ARX | c.280G>T (p.Gly94Cys)
| gnomAD v4 |
X | g.25013715C>G | CA412613502 | ARX | c.280G>C (p.Gly94Arg)
| |
X | g.25013715C>T | CA412613503 | ARX | c.280G>A (p.Gly94Ser)
| gnomAD v4 |
X | g.25013716C>A | CA515749087 | ARX | c.279G>T (p.Gly93=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013716C= | CA2420209412 | ARX | c.279G= (p.Gly93=)
| |
X | g.25013716C>G | CA515749088 | ARX | c.279G>C (p.Gly93=)
| |
X | g.25013716C>T | CA515749090 | ARX | c.279G>A (p.Gly93=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013717C>A | CA412613504 | ARX | c.278G>T (p.Gly93Val)
| gnomAD v4 |
X | g.25013717C>G | CA412613505 | ARX | c.278G>C (p.Gly93Ala)
| |
X | g.25013717C>T | CA412613506 | ARX | c.278G>A (p.Gly93Glu)
| gnomAD v4 |
X | g.25013718C>A | CA412613507 | ARX | c.277G>T (p.Gly93Trp)
| gnomAD v4 |
X | g.25013718C>G | CA412613508 | ARX | c.277G>C (p.Gly93Arg)
| gnomAD v4 |
X | g.25013718C>T | CA412613509 | ARX | c.277G>A (p.Gly93Arg)
| |
X | g.25013719G>A | CA515749096 | ARX | c.276C>T (p.Gly92=)
| ClinVar gnomAD v4 |
X | g.25013719G>C | CA515749098 | ARX | c.276C>G (p.Gly92=)
| |
X | g.25013719G>T | CA515749100 | ARX | c.276C>A (p.Gly92=)
| |
X | g.25013720C>A | CA412613510 | ARX | c.275G>T (p.Gly92Val)
| gnomAD v4 |
X | g.25013720C>G | CA412613511 | ARX | c.275G>C (p.Gly92Ala)
| |
X | g.25013720C>T | CA412613512 | ARX | c.275G>A (p.Gly92Asp)
| |
X | g.25013721C>A | CA412613513 | ARX | c.274G>T (p.Gly92Cys)
| gnomAD v4 |
X | g.25013721C= | CA2420209413 | ARX | c.274G= (p.Gly92=)
| |
X | g.25013721C>G | CA412613515 | ARX | c.274G>C (p.Gly92Arg)
| ClinVar dbSNP |
X | g.25013721C>T | CA412613514 | ARX | c.274G>A (p.Gly92Ser)
| |
X | g.25013722C>A | CA515749106 | ARX | c.273G>T (p.Pro91=)
| gnomAD v4 |
X | g.25013722C= | CA2420209414 | ARX | c.273G= (p.Pro91=)
| |
X | g.25013722C>G | CA515749108 | ARX | c.273G>C (p.Pro91=)
| ClinVar gnomAD v4 |
X | g.25013722C>T | CA515749110 | ARX | c.273G>A (p.Pro91=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013723G>A | CA412613516 | ARX | c.272C>T (p.Pro91Leu)
| gnomAD v4 |
X | g.25013723G>C | CA412613517 | ARX | c.272C>G (p.Pro91Arg)
| |
X | g.25013723G>T | CA412613518 | ARX | c.272C>A (p.Pro91Gln)
| gnomAD v4 |
X | g.25013724G>A | CA412613519 | ARX | c.271C>T (p.Pro91Ser)
| gnomAD v4 |
X | g.25013724G>C | CA412613520 | ARX | c.271C>G (p.Pro91Ala)
| |
X | g.25013724G>T | CA412613521 | ARX | c.271C>A (p.Pro91Thr)
| gnomAD v4 |
X | g.25013725G>A | CA515749119 | ARX | c.270C>T (p.Gly90=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013725G>C | CA515749118 | ARX | c.270C>G (p.Gly90=)
| |
X | g.25013725G>T | CA515749116 | ARX | c.270C>A (p.Gly90=)
| gnomAD v4 |
X | g.25013726C>A | CA412613524 | ARX | c.269G>T (p.Gly90Val)
| gnomAD v4 |
X | g.25013726C>G | CA412613522 | ARX | c.269G>C (p.Gly90Ala)
| |
X | g.25013726C>T | CA412613523 | ARX | c.269G>A (p.Gly90Asp)
| gnomAD v4 |
X | g.25013727C>A | CA412613525 | ARX | c.268G>T (p.Gly90Cys)
| gnomAD v4 |
X | g.25013727C= | CA2420209415 | ARX | c.268G= (p.Gly90=)
| |
X | g.25013727C>G | CA412613526 | ARX | c.268G>C (p.Gly90Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013727C>T | CA412613527 | ARX | c.268G>A (p.Gly90Ser)
| gnomAD v4 |
X | g.25013728G>A | CA16616660 | ARX | c.267C>T (p.Tyr89=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013728G>C | CA412613528 | ARX | c.267C>G (p.Tyr89Ter)
| |
X | g.25013728G= | CA2420209416 | ARX | c.267C= (p.Tyr89=)
| |
X | g.25013728G>T | CA412613529 | ARX | c.267C>A (p.Tyr89Ter)
| gnomAD v4 |
X | g.25013729T>A | CA412613530 | ARX | c.266A>T (p.Tyr89Phe)
| |
X | g.25013729T>C | CA412613532 | ARX | c.266A>G (p.Tyr89Cys)
| gnomAD v4 |
X | g.25013729T>G | CA412613531 | ARX | c.266A>C (p.Tyr89Ser)
| |
X | g.25013730A>C | CA412613533 | ARX | c.265T>G (p.Tyr89Asp)
| |
X | g.25013730A>G | CA412613534 | ARX | c.265T>C (p.Tyr89His)
| gnomAD v4 |
X | g.25013730A>T | CA412613535 | ARX | c.265T>A (p.Tyr89Asn)
| gnomAD v4 |
X | g.25013731C>A | CA515749129 | ARX | c.264G>T (p.Leu88=)
| gnomAD v4 |
X | g.25013731C= | CA2420209417 | ARX | c.264G= (p.Leu88=)
| |
X | g.25013731C>G | CA515749133 | ARX | c.264G>C (p.Leu88=)
| |
X | g.25013731C>T | CA515749131 | ARX | c.264G>A (p.Leu88=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013732A>C | CA412613536 | ARX | c.263T>G (p.Leu88Arg)
| gnomAD v4 |
X | g.25013732A>G | CA412613537 | ARX | c.263T>C (p.Leu88Pro)
| gnomAD v4 |
X | g.25013732A>T | CA412613538 | ARX | c.263T>A (p.Leu88Gln)
| |
X | g.25013733G>A | CA515749137 | ARX | c.262C>T (p.Leu88=)
| gnomAD v4 |
X | g.25013733G>C | CA412613539 | ARX | c.262C>G (p.Leu88Val)
| |
X | g.25013733G>T | CA412613540 | ARX | c.262C>A (p.Leu88Met)
| gnomAD v4 |
X | g.25013734G>A | CA515749140 | ARX | c.261C>T (p.Arg87=)
| |
X | g.25013734G>C | CA515749142 | ARX | c.261C>G (p.Arg87=)
| |
X | g.25013734G>T | CA515749143 | ARX | c.261C>A (p.Arg87=)
| gnomAD v4 |
X | g.25013735C>A | CA412613541 | ARX | c.260G>T (p.Arg87Leu)
| gnomAD v4 |
X | g.25013735C= | CA2420209418 | ARX | c.260G= (p.Arg87=)
| |
X | g.25013735C>G | CA235597 | ARX | c.260G>C (p.Arg87Pro)
| ClinVar dbSNP gnomAD v4 |
X | g.25013735C>T | CA412613542 | ARX | c.260G>A (p.Arg87His)
| gnomAD v4 |