15 | g.80152495_80152779del | CA2804914975 | | | |
15 | g.80152489_80152708delinsCAGGGGAGGGGCGGGGCTCGGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCA | CA2190326523 | | | |
15 | g.80152508_80152726del | CA971892971 | FAH | c.-67_-30+181del
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152556_80152707del | CA971893327 | FAH | c.-30+11_-30+162del (n.-30+11_-30+162del)
| gnomAD v3 gnomAD v4 |
15 | g.80152562_80152779del | CA971893330 | FAH | c.-30+17_-30+234del (n.-30+17_-30+234del)
| gnomAD v3 gnomAD v4 |
15 | g.80152586_80152737del | CA619266136 | FAH | c.-30+41_-30+192del (n.-30+41_-30+192del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152562_80152780delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC | CA2190326750 | FAH | c.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC (n.-30+17_-30+235delinsAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGC)
| |
15 | g.80152575_80152792del | CA971893366 | FAH | c.-30+30_-29-234del (n.-30+30_-29-234del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152597_80152747del | CA971893494 | FAH | c.-30+52_-30+202del (n.-30+52_-30+202del)
| gnomAD v3 gnomAD v4 |
15 | g.80152604_80152754del | CA2804915027 | FAH | c.-30+59_-30+209del (n.-30+59_-30+209del)
| |
15 | g.80152613_80152765delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGG | CA2190326899 | FAH | c.-30+68_-30+220delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGG (n.-30+68_-30+220delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGG)
| |
15 | g.80152613_80152782delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGG | CA2190326896 | FAH | c.-30+68_-30+237delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGG (n.-30+68_-30+237delinsAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGTCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGG)
| |
15 | g.80152622_80152724del | CA971893603 | FAH | c.-30+77_-30+179del (n.-30+77_-30+179del)
| gnomAD v3 gnomAD v4 |
15 | g.80152622_80152773del | CA971893604 | FAH | c.-30+77_-30+228del (n.-30+77_-30+228del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152622_80152790del | CA971893607 | FAH | c.-30+77_-29-236del (n.-30+77_-29-236del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152622_80152707del | CA971893613 | FAH | c.-30+77_-30+162del (n.-30+77_-30+162del)
| gnomAD v3 gnomAD v4 |
15 | g.80152622_80152692del | CA2567018510 | FAH | c.-30+77_-30+147del (n.-30+77_-30+147del)
| gnomAD v4 |
15 | g.80152618_80152692del | CA2804915040 | FAH | c.-30+73_-30+147del (n.-30+73_-30+147del)
| |
15 | g.80152639_80152724del | CA971893631 | FAH | c.-30+94_-30+179del (n.-30+94_-30+179del)
| gnomAD v3 gnomAD v4 |
15 | g.80152634_80152856del | CA971893648 | FAH | c.-30+89_-29-170del (n.-30+89_-29-170del)
| gnomAD v3 gnomAD v4 |
15 | g.80152632_80152734del | CA971893662 | FAH | c.-30+87_-30+189del (n.-30+87_-30+189del)
| gnomAD v3 gnomAD v4 |
15 | g.80152632_80152700del | CA971893671 | FAH | c.-30+87_-30+155del (n.-30+87_-30+155del)
| gnomAD v3 gnomAD v4 |
15 | g.80152639_80152790del | CA971893681 | FAH | c.-30+94_-29-236del (n.-30+94_-29-236del)
| gnomAD v3 gnomAD v4 |
15 | g.80152632_80152701delinsGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT | CA2190326975 | FAH | c.-30+87_-30+156delinsGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT (n.-30+87_-30+156delinsGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT)
| |
15 | g.80152639_80152707del | CA971893686 | FAH | c.-30+94_-30+162del (n.-30+94_-30+162del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152640_80152720del | CA2629872566 | FAH | c.-30+95_-30+175del (n.-30+95_-30+175del)
| gnomAD v4 |
15 | g.80152669_80152737del | CA971893725 | FAH | c.-30+124_-30+192del (n.-30+124_-30+192del)
| gnomAD v3 gnomAD v4 |
15 | g.80152649_80152734del | CA2512159832 | FAH | c.-30+104_-30+189del (n.-30+104_-30+189del)
| |
15 | g.80152651_80152707del | CA2629872585 | FAH | c.-30+106_-30+162del (n.-30+106_-30+162del)
| gnomAD v4 |
15 | g.80152649_80152701delinsGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT | CA2190327037 | FAH | c.-30+104_-30+156delinsGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT (n.-30+104_-30+156delinsGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCGGGGT)
| |
15 | g.80152656_80152707del | CA971893754 | FAH | c.-30+111_-30+162del (n.-30+111_-30+162del)
| dbSNP |
15 | g.80152656_80152712del | CA971893770 | FAH | c.-30+111_-30+167del (n.-30+111_-30+167del)
| gnomAD v3 gnomAD v4 |
15 | g.80152660_80152708del | CA619266158 | FAH | c.-30+115_-30+163del (n.-30+115_-30+163del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152666_80152729del | CA2596753481 | FAH | c.-30+121_-30+184del (n.-30+121_-30+184del)
| gnomAD v3 gnomAD v4 |
15 | g.80152666_80152679del | CA971893905 | FAH | c.-30+121_-30+134del (n.-30+121_-30+134del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152669_80152676delinsGTGAGACT | CA2190327125 | FAH | c.-30+124_-30+131delinsGTGAGACT (n.-30+124_-30+131delinsGTGAGACT)
| |
15 | g.80152670_80152676del | CA971893949 | FAH | c.-30+125_-30+131del (n.-30+125_-30+131del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152670_80152687del | CA971893964 | FAH | c.-30+125_-30+142del (n.-30+125_-30+142del)
| gnomAD v3 gnomAD v4 |
15 | g.80152673_80152675delinsGAC | CA2190327137 | FAH | c.-30+128_-30+130delinsGAC (n.-30+128_-30+130delinsGAC)
| |
15 | g.80152674_80152688del | CA2629872656 | FAH | c.-30+129_-30+143del (n.-30+129_-30+143del)
| gnomAD v4 |
15 | g.80152674_80152675del | CA2190327139 | FAH | c.-30+129_-30+130del (n.-30+129_-30+130del)
| dbSNP gnomAD v4 |
15 | g.80152674_80152676del | CA971893995 | FAH | c.-30+129_-30+131del (n.-30+129_-30+131del)
| gnomAD v3 gnomAD v4 |
15 | g.80152675C>A | CA2533339667 | FAH | c.-30+130C>A (n.-30+130C>A)
| gnomAD v4 |
15 | g.80152675C>G | CA971893997 | FAH | c.-30+130C>G (n.-30+130C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152675C>T | CA2629872660 | FAH | c.-30+130C>T (n.-30+130C>T)
| gnomAD v4 |
15 | g.80152675_80152677delinsCTG | CA2190327141 | FAH | c.-30+130_-30+132delinsCTG (n.-30+130_-30+132delinsCTG)
| |
15 | g.80152676T>A | CA971894001 | FAH | c.-30+131T>A (n.-30+131T>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152676T>C | CA971894003 | FAH | c.-30+131T>C (n.-30+131T>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152676T>G | CA971894006 | FAH | c.-30+131T>G (n.-30+131T>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152678_80152679del | CA716102463 | FAH | c.-30+133_-30+134del (n.-30+133_-30+134del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152677G>A | CA2629872662 | FAH | c.-30+132G>A (n.-30+132G>A)
| gnomAD v4 |
15 | g.80152677G>C | CA2504280987 | FAH | c.-30+132G>C (n.-30+132G>C)
| gnomAD v4 |
15 | g.80152677G>T | CA2629872663 | FAH | c.-30+132G>T (n.-30+132G>T)
| gnomAD v4 |
15 | g.80152677dup | CA2629872661 | FAH | c.-30+132dup (n.-30+132dup)
| gnomAD v4 |
15 | g.80152677_80152678insC | CA2516784971 | FAH | c.-30+132_-30+133insC (n.-30+132_-30+133insC)
| |
15 | g.80152677_80152678insGGGGGGGC | CA971894009 | FAH | c.-30+132_-30+133insGGGGGGGC (n.-30+132_-30+133insGGGGGGGC)
| gnomAD v3 gnomAD v4 |
15 | g.80152678T>A | CA971894013 | FAH | c.-30+133T>A (n.-30+133T>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152678T>C | CA971894019 | FAH | c.-30+133T>C (n.-30+133T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152678T>G | CA971894020 | FAH | c.-30+133T>G (n.-30+133T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152678T= | CA2190327145 | FAH | c.-30+133T= (n.-30+133T=)
| |
15 | g.80152679G>C | CA2629872664 | FAH | c.-30+134G>C (n.-30+134G>C)
| gnomAD v4 |
15 | g.80152679G>T | CA2629872665 | FAH | c.-30+134G>T (n.-30+134G>T)
| gnomAD v4 |
15 | g.80152680dup | CA716102466 | FAH | c.-30+135dup (n.-30+135dup)
| dbSNP |
15 | g.80152680G>C | CA2629872666 | FAH | c.-30+135G>C (n.-30+135G>C)
| gnomAD v4 |
15 | g.80152680G>T | CA2541190545 | FAH | c.-30+135G>T (n.-30+135G>T)
| |
15 | g.80152681del | CA2629872668 | FAH | c.-30+136del (n.-30+136del)
| gnomAD v4 |
15 | g.80152681A>C | CA971894025 | FAH | c.-30+136A>C (n.-30+136A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152681A>G | CA971894030 | FAH | c.-30+136A>G (n.-30+136A>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152681A>T | CA2629872667 | FAH | c.-30+136A>T (n.-30+136A>T)
| gnomAD v4 |
15 | g.80152682G>A | CA971894031 | FAH | c.-30+137G>A (n.-30+137G>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152682G>C | CA2629872670 | FAH | c.-30+137G>C (n.-30+137G>C)
| gnomAD v4 |
15 | g.80152682G= | CA2190327148 | FAH | c.-30+137G= (n.-30+137G=)
| |
15 | g.80152682G>T | CA2629872671 | FAH | c.-30+137G>T (n.-30+137G>T)
| gnomAD v4 |
15 | g.80152682_80152683dup | CA2629872669 | FAH | c.-30+137_-30+138dup (n.-30+137_-30+138dup)
| gnomAD v4 |
15 | g.80152682_80152683insC | CA971894034 | FAH | c.-30+137_-30+138insC (n.-30+137_-30+138insC)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152683G>A | CA2629872672 | FAH | c.-30+138G>A (n.-30+138G>A)
| gnomAD v4 |
15 | g.80152683G>C | CA2804915084 | FAH | c.-30+138G>C (n.-30+138G>C)
| |
15 | g.80152683G>T | CA2629872673 | FAH | c.-30+138G>T (n.-30+138G>T)
| gnomAD v4 |
15 | g.80152684A= | CA2190327151 | FAH | c.-30+139A= (n.-30+139A=)
| |
15 | g.80152684A>C | CA971894039 | FAH | c.-30+139A>C (n.-30+139A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152684A>G | CA971894041 | FAH | c.-30+139A>G (n.-30+139A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152684A>T | CA619266165 | FAH | c.-30+139A>T (n.-30+139A>T)
| gnomAD v2 gnomAD v4 |
15 | g.80152684_80152687del | CA971894037 | FAH | c.-30+139_-30+142del (n.-30+139_-30+142del)
| gnomAD v3 gnomAD v4 |
15 | g.80152684_80152687delinsACCT | CA2190327152 | FAH | c.-30+139_-30+142delinsACCT (n.-30+139_-30+142delinsACCT)
| |
15 | g.80152685C>A | CA2541941761 | FAH | c.-30+140C>A (n.-30+140C>A)
| gnomAD v4 |
15 | g.80152685C>G | CA971894047 | FAH | c.-30+140C>G (n.-30+140C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152685_80152686del | CA2629872674 | FAH | c.-30+140_-30+141del (n.-30+140_-30+141del)
| gnomAD v4 |
15 | g.80152685_80152687del | CA971894045 | FAH | c.-30+140_-30+142del (n.-30+140_-30+142del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152686C>A | CA2629872675 | FAH | c.-30+141C>A (n.-30+141C>A)
| gnomAD v4 |
15 | g.80152686C= | CA2190327154 | FAH | c.-30+141C= (n.-30+141C=)
| |
15 | g.80152686C>G | CA716102468 | FAH | c.-30+141C>G (n.-30+141C>G)
| dbSNP gnomAD v4 |
15 | g.80152686C>T | CA2190327156 | FAH | c.-30+141C>T (n.-30+141C>T)
| dbSNP |
15 | g.80152687T>A | CA716102470 | FAH | c.-30+142T>A (n.-30+142T>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152687T>C | CA2629872676 | FAH | c.-30+142T>C (n.-30+142T>C)
| gnomAD v4 |
15 | g.80152687T>G | CA274010725 | FAH | c.-30+142T>G (n.-30+142T>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152687T= | CA2190327157 | FAH | c.-30+142T= (n.-30+142T=)
| |
15 | g.80152689G>A | CA971894050 | FAH | c.-30+144G>A (n.-30+144G>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152689G>C | CA2503089899 | FAH | c.-30+144G>C (n.-30+144G>C)
| gnomAD v4 |
15 | g.80152690G>A | CA971894061 | FAH | c.-30+145G>A (n.-30+145G>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152690G>C | CA2629872678 | FAH | c.-30+145G>C (n.-30+145G>C)
| gnomAD v4 |
15 | g.80152690G>T | CA2629872677 | FAH | c.-30+145G>T (n.-30+145G>T)
| gnomAD v4 |
15 | g.80152690_80152694delinsGGCTC | CA2190327159 | FAH | c.-30+145_-30+149delinsGGCTC (n.-30+145_-30+149delinsGGCTC)
| |
15 | g.80152690_80152701del | CA971894055 | FAH | c.-30+145_-30+156del (n.-30+145_-30+156del)
| gnomAD v3 gnomAD v4 |
15 | g.80152691G>C | CA2629872680 | FAH | c.-30+146G>C (n.-30+146G>C)
| gnomAD v4 |
15 | g.80152691G>T | CA2629872679 | FAH | c.-30+146G>T (n.-30+146G>T)
| gnomAD v4 |
15 | g.80152693_80152696del | CA971894067 | FAH | c.-30+148_-30+151del (n.-30+148_-30+151del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152691_80152701del | CA971894068 | FAH | c.-30+146_-30+156del (n.-30+146_-30+156del)
| gnomAD v3 gnomAD v4 |
15 | g.80152692del | CA2629872683 | FAH | c.-30+147del (n.-30+147del)
| gnomAD v4 |
15 | g.80152692C>A | CA2629872681 | FAH | c.-30+147C>A (n.-30+147C>A)
| gnomAD v4 |
15 | g.80152692C>G | CA2629872682 | FAH | c.-30+147C>G (n.-30+147C>G)
| gnomAD v4 |
15 | g.80152692C>T | CA2556699057 | FAH | c.-30+147C>T (n.-30+147C>T)
| gnomAD v4 |
15 | g.80152693T>A | CA2629872684 | FAH | c.-30+148T>A (n.-30+148T>A)
| gnomAD v4 |
15 | g.80152693T>C | CA971894078 | FAH | c.-30+148T>C (n.-30+148T>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152693T>G | CA2629872685 | FAH | c.-30+148T>G (n.-30+148T>G)
| gnomAD v4 |
15 | g.80152693_80152714del | CA971894071 | FAH | c.-30+148_-30+169del (n.-30+148_-30+169del)
| gnomAD v3 gnomAD v4 |
15 | g.80152694C= | CA2190327162 | FAH | c.-30+149C= (n.-30+149C=)
| |
15 | g.80152694C>G | CA971894079 | FAH | c.-30+149C>G (n.-30+149C>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152694C>T | CA2190327161 | FAH | c.-30+149C>T (n.-30+149C>T)
| dbSNP gnomAD v4 |
15 | g.80152695G>A | CA971894081 | FAH | c.-30+150G>A (n.-30+150G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152695G>C | CA2629872686 | FAH | c.-30+150G>C (n.-30+150G>C)
| gnomAD v4 |
15 | g.80152695G= | CA2190327163 | FAH | c.-30+150G= (n.-30+150G=)
| |
15 | g.80152695G>T | CA2629872687 | FAH | c.-30+150G>T (n.-30+150G>T)
| gnomAD v4 |
15 | g.80152696C>A | CA971894084 | FAH | c.-30+151C>A (n.-30+151C>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152696C= | CA2190327165 | FAH | c.-30+151C= (n.-30+151C=)
| |
15 | g.80152696C>G | CA971894089 | FAH | c.-30+151C>G (n.-30+151C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152696C>T | CA971894093 | FAH | c.-30+151C>T (n.-30+151C>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152701_80152766del | CA619266166 | FAH | c.-30+156_-30+221del (n.-30+156_-30+221del)
| ClinVar gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152697G>A | CA971894097 | FAH | c.-30+152G>A (n.-30+152G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152697G>C | CA2629872688 | FAH | c.-30+152G>C (n.-30+152G>C)
| gnomAD v4 |
15 | g.80152697G= | CA2190327166 | FAH | c.-30+152G= (n.-30+152G=)
| |
15 | g.80152697G>T | CA2629872689 | FAH | c.-30+152G>T (n.-30+152G>T)
| gnomAD v4 |
15 | g.80152701_80152767del | CA971894095 | FAH | c.-30+156_-30+222del (n.-30+156_-30+222del)
| gnomAD v3 gnomAD v4 |
15 | g.80152698G>A | CA2629872691 | FAH | c.-30+153G>A (n.-30+153G>A)
| gnomAD v4 |
15 | g.80152698G>C | CA2629872692 | FAH | c.-30+153G>C (n.-30+153G>C)
| gnomAD v4 |
15 | g.80152698G>T | CA2596753497 | FAH | c.-30+153G>T (n.-30+153G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152700_80152701insAGGG | CA2596753496 | FAH | c.-30+155_-30+156insAGGG (n.-30+155_-30+156insAGGG)
| gnomAD v3 gnomAD v4 |
15 | g.80152701_80152717del | CA2629872690 | FAH | c.-30+156_-30+172del (n.-30+156_-30+172del)
| gnomAD v4 |
15 | g.80152699G>C | CA2529883291 | FAH | c.-30+154G>C (n.-30+154G>C)
| |
15 | g.80152699G>T | CA2629872693 | FAH | c.-30+154G>T (n.-30+154G>T)
| gnomAD v4 |
15 | g.80152700G>A | CA971894098 | FAH | c.-30+155G>A (n.-30+155G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152700G= | CA2190327167 | FAH | c.-30+155G= (n.-30+155G=)
| |
15 | g.80152700G>T | CA2629872694 | FAH | c.-30+155G>T (n.-30+155G>T)
| gnomAD v4 |
15 | g.80152701del | CA971894101 | FAH | c.-30+156del (n.-30+156del)
| gnomAD v3 gnomAD v4 |
15 | g.80152701T>A | CA2804915088 | FAH | c.-30+156T>A (n.-30+156T>A)
| |
15 | g.80152701T>C | CA971894103 | FAH | c.-30+156T>C (n.-30+156T>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152701T>G | CA274010731 | FAH | c.-30+156T>G (n.-30+156T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152701T= | CA2190327169 | FAH | c.-30+156T= (n.-30+156T=)
| |
15 | g.80152701_80152702del | CA2629872695 | FAH | c.-30+156_-30+157del (n.-30+156_-30+157del)
| gnomAD v4 |
15 | g.80152702C>A | CA2629872697 | FAH | c.-30+157C>A (n.-30+157C>A)
| gnomAD v4 |
15 | g.80152702C= | CA2190327171 | FAH | c.-30+157C= (n.-30+157C=)
| |
15 | g.80152702C>G | CA971894106 | FAH | c.-30+157C>G (n.-30+157C>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152702C>T | CA2804915089 | FAH | c.-30+157C>T (n.-30+157C>T)
| |
15 | g.80152708_80152773del | CA2629872696 | FAH | c.-30+163_-30+228del (n.-30+163_-30+228del)
| gnomAD v4 |
15 | g.80152702_80152703insT | CA2629872698 | FAH | c.-30+157_-30+158insT (n.-30+157_-30+158insT)
| gnomAD v4 |
15 | g.80152703G>C | CA2558885288 | FAH | c.-30+158G>C (n.-30+158G>C)
| gnomAD v4 |
15 | g.80152703G= | CA2190327173 | FAH | c.-30+158G= (n.-30+158G=)
| |
15 | g.80152703G>T | CA716102472 | FAH | c.-30+158G>T (n.-30+158G>T)
| dbSNP gnomAD v4 |
15 | g.80152704G>C | CA2629872699 | FAH | c.-30+159G>C (n.-30+159G>C)
| gnomAD v4 |
15 | g.80152704G>T | CA2804915090 | FAH | c.-30+159G>T (n.-30+159G>T)
| |
15 | g.80152705G>A | CA2629872700 | FAH | c.-30+160G>A (n.-30+160G>A)
| gnomAD v4 |
15 | g.80152705G= | CA2190327177 | FAH | c.-30+160G= (n.-30+160G=)
| |
15 | g.80152705G>T | CA2190327175 | FAH | c.-30+160G>T (n.-30+160G>T)
| dbSNP |
15 | g.80152705_80152706insCCTGACCACAGCG | CA2804915091 | FAH | c.-30+160_-30+161insCCTGACCACAGCG (n.-30+160_-30+161insCCTGACCACAGCG)
| |
15 | g.80152705_80152706insCCTGACCACA | CA971894108 | FAH | c.-30+160_-30+161insCCTGACCACA (n.-30+160_-30+161insCCTGACCACA)
| gnomAD v3 gnomAD v4 |
15 | g.80152706G>A | CA716102473 | FAH | c.-30+161G>A (n.-30+161G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152706G>C | CA2596753500 | FAH | c.-30+161G>C (n.-30+161G>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152706G= | CA2190327180 | FAH | c.-30+161G= (n.-30+161G=)
| |
15 | g.80152707del | CA2629872701 | FAH | c.-30+162del (n.-30+162del)
| gnomAD v4 |
15 | g.80152707C>A | CA2629872702 | FAH | c.-30+162C>A (n.-30+162C>A)
| gnomAD v4 |
15 | g.80152707C>G | CA971894123 | FAH | c.-30+162C>G (n.-30+162C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152707dup | CA716102475 | FAH | c.-30+162dup (n.-30+162dup)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152707_80152712delinsCAAGGG | CA2190327183 | FAH | c.-30+162_-30+167delinsCAAGGG (n.-30+162_-30+167delinsCAAGGG)
| |
15 | g.80152708A= | CA2190327188 | FAH | c.-30+163A= (n.-30+163A=)
| |
15 | g.80152708A>C | CA619266167 | FAH | c.-30+163A>C (n.-30+163A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152708A>G | CA716102479 | FAH | c.-30+163A>G (n.-30+163A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152708A>T | CA2190327186 | FAH | c.-30+163A>T (n.-30+163A>T)
| dbSNP gnomAD v4 |
15 | g.80152708_80152712del | CA971894131 | FAH | c.-30+163_-30+167del (n.-30+163_-30+167del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152709A= | CA2190327191 | FAH | c.-30+164A= (n.-30+164A=)
| |
15 | g.80152709A>C | CA2596753503 | FAH | c.-30+164A>C (n.-30+164A>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152709A>G | CA2190327192 | FAH | c.-30+164A>G (n.-30+164A>G)
| dbSNP gnomAD v4 |
15 | g.80152709A>T | CA2629872704 | FAH | c.-30+164A>T (n.-30+164A>T)
| gnomAD v4 |
15 | g.80152714_80152779del | CA2629872703 | FAH | c.-30+169_-30+234del (n.-30+169_-30+234del)
| gnomAD v4 |
15 | g.80152710G>C | CA716102483 | FAH | c.-30+165G>C (n.-30+165G>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152710G= | CA2190327195 | FAH | c.-30+165G= (n.-30+165G=)
| |
15 | g.80152710G>T | CA2629872705 | FAH | c.-30+165G>T (n.-30+165G>T)
| gnomAD v4 |
15 | g.80152711G>C | CA2629872706 | FAH | c.-30+166G>C (n.-30+166G>C)
| gnomAD v4 |
15 | g.80152711G>T | CA2629872707 | FAH | c.-30+166G>T (n.-30+166G>T)
| gnomAD v4 |
15 | g.80152718_80152734dup | CA2190327196 | FAH | c.-30+173_-30+189dup (n.-30+173_-30+189dup)
| dbSNP gnomAD v4 |
15 | g.80152712G>A | CA2629872708 | FAH | c.-30+167G>A (n.-30+167G>A)
| gnomAD v4 |
15 | g.80152712G>C | CA716102484 | FAH | c.-30+167G>C (n.-30+167G>C)
| dbSNP |
15 | g.80152712G= | CA2190327198 | FAH | c.-30+167G= (n.-30+167G=)
| |
15 | g.80152712G>T | CA2629872709 | FAH | c.-30+167G>T (n.-30+167G>T)
| gnomAD v4 |
15 | g.80152713G>A | CA2804915093 | FAH | c.-30+168G>A (n.-30+168G>A)
| |
15 | g.80152714A= | CA2190327203 | FAH | c.-30+169A= (n.-30+169A=)
| |
15 | g.80152714A>C | CA619266168 | FAH | c.-30+169A>C (n.-30+169A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152714A>G | CA274010750 | FAH | c.-30+169A>G (n.-30+169A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152725_80152785del | CA971894136 | FAH | c.-30+180_-29-241del (n.-30+180_-29-241del)
| gnomAD v3 gnomAD v4 |
15 | g.80152725_80152773del | CA2629872710 | FAH | c.-30+180_-30+228del (n.-30+180_-30+228del)
| gnomAD v4 |
15 | g.80152727_80152792del | CA2629872711 | FAH | c.-30+182_-29-234del (n.-30+182_-29-234del)
| gnomAD v4 |
15 | g.80152716G>A | CA2629872712 | FAH | c.-30+171G>A (n.-30+171G>A)
| gnomAD v4 |
15 | g.80152719_80152730del | CA971894142 | FAH | c.-30+174_-30+185del (n.-30+174_-30+185del)
| gnomAD v3 gnomAD v4 |
15 | g.80152723_80152804del | CA2629872713 | FAH | c.-30+178_-29-222del (n.-30+178_-29-222del)
| gnomAD v4 |
15 | g.80152717G>T | CA2629872714 | FAH | c.-30+172G>T (n.-30+172G>T)
| gnomAD v4 |
15 | g.80152718G>A | CA2190327207 | FAH | c.-30+173G>A (n.-30+173G>A)
| dbSNP gnomAD v4 |
15 | g.80152718G= | CA2190327205 | FAH | c.-30+173G= (n.-30+173G=)
| |
15 | g.80152719C>A | CA2629872715 | FAH | c.-30+174C>A (n.-30+174C>A)
| gnomAD v4 |
15 | g.80152719C= | CA2190327208 | FAH | c.-30+174C= (n.-30+174C=)
| |
15 | g.80152719C>G | CA2190327210 | FAH | c.-30+174C>G (n.-30+174C>G)
| dbSNP gnomAD v4 |
15 | g.80152719C>T | CA2190327211 | FAH | c.-30+174C>T (n.-30+174C>T)
| dbSNP gnomAD v4 |
15 | g.80152719_80152726del | CA2566251178 | FAH | c.-30+174_-30+181del (n.-30+174_-30+181del)
| |
15 | g.80152720G>A | CA971894146 | FAH | c.-30+175G>A (n.-30+175G>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152720G>T | CA2629872716 | FAH | c.-30+175G>T (n.-30+175G>T)
| gnomAD v4 |
15 | g.80152723del | CA2804915098 | FAH | c.-30+178del (n.-30+178del)
| |
15 | g.80152720_80152721insTGGAGTGGAGT | CA2804915099 | FAH | c.-30+175_-30+176insTGGAGTGGAGT (n.-30+175_-30+176insTGGAGTGGAGT)
| |
15 | g.80152721G>T | CA971894147 | FAH | c.-30+176G>T (n.-30+176G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152727_80152863del | CA2629872717 | FAH | c.-30+182_-29-163del (n.-30+182_-29-163del)
| gnomAD v4 |
15 | g.80152722G= | CA2190327213 | FAH | c.-30+177G= (n.-30+177G=)
| |
15 | g.80152722G>T | CA2190327214 | FAH | c.-30+177G>T (n.-30+177G>T)
| dbSNP gnomAD v4 |
15 | g.80152723G>A | CA2629872719 | FAH | c.-30+178G>A (n.-30+178G>A)
| gnomAD v4 |
15 | g.80152723G>T | CA2629872718 | FAH | c.-30+178G>T (n.-30+178G>T)
| gnomAD v4 |
15 | g.80152723_80152726del | CA2629872721 | FAH | c.-30+178_-30+181del (n.-30+178_-30+181del)
| gnomAD v4 |
15 | g.80152724_80152728del | CA2629872720 | FAH | c.-30+179_-30+183del (n.-30+179_-30+183del)
| gnomAD v4 |
15 | g.80152724C>A | CA2629872722 | FAH | c.-30+179C>A (n.-30+179C>A)
| gnomAD v4 |
15 | g.80152724C>G | CA2540926473 | FAH | c.-30+179C>G (n.-30+179C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152725del | CA2629872723 | FAH | c.-30+180del (n.-30+180del)
| gnomAD v4 |
15 | g.80152725T>G | CA619266169 | FAH | c.-30+180T>G (n.-30+180T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152725T= | CA2190327219 | FAH | c.-30+180T= (n.-30+180T=)
| |
15 | g.80152725_80152729del | CA971894150 | FAH | c.-30+180_-30+184del (n.-30+180_-30+184del)
| gnomAD v3 gnomAD v4 |
15 | g.80152726C>A | CA619266170 | FAH | c.-30+181C>A (n.-30+181C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152726C= | CA2190327223 | FAH | c.-30+181C= (n.-30+181C=)
| |
15 | g.80152726C>G | CA2804915102 | FAH | c.-30+181C>G (n.-30+181C>G)
| |
15 | g.80152726C>T | CA971894159 | FAH | c.-30+181C>T (n.-30+181C>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152727A= | CA2190327226 | FAH | c.-30+182A= (n.-30+182A=)
| |
15 | g.80152727A>C | CA2629872724 | FAH | c.-30+182A>C (n.-30+182A>C)
| gnomAD v4 |
15 | g.80152727A>G | CA619266171 | FAH | c.-30+182A>G (n.-30+182A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152727A>T | CA971894163 | FAH | c.-30+182A>T (n.-30+182A>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152728G>A | CA716102490 | FAH | c.-30+183G>A (n.-30+183G>A)
| dbSNP gnomAD v4 |
15 | g.80152728G>C | CA2832328184 | FAH | c.-30+183G>C (n.-30+183G>C)
| |
15 | g.80152728G= | CA2190327231 | FAH | c.-30+183G= (n.-30+183G=)
| |
15 | g.80152728G>T | CA2629872725 | FAH | c.-30+183G>T (n.-30+183G>T)
| gnomAD v4 |
15 | g.80152730G>A | CA2629872727 | FAH | c.-30+185G>A (n.-30+185G>A)
| gnomAD v4 |
15 | g.80152730_80152750del | CA2629872726 | FAH | c.-30+185_-30+205del (n.-30+185_-30+205del)
| gnomAD v4 |
15 | g.80152731A= | CA2190327233 | FAH | c.-30+186A= (n.-30+186A=)
| |
15 | g.80152731A>C | CA2505080333 | FAH | c.-30+186A>C (n.-30+186A>C)
| gnomAD v4 |
15 | g.80152731A>G | CA971894170 | FAH | c.-30+186A>G (n.-30+186A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152735_80152800del | CA971894168 | FAH | c.-30+190_-29-226del (n.-30+190_-29-226del)
| gnomAD v3 gnomAD v4 |
15 | g.80152732G>A | CA2804915107 | FAH | c.-30+187G>A (n.-30+187G>A)
| |
15 | g.80152732G>C | CA2629872728 | FAH | c.-30+187G>C (n.-30+187G>C)
| gnomAD v4 |
15 | g.80152733G>T | CA971894175 | FAH | c.-30+188G>T (n.-30+188G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152734G>A | CA2629872729 | FAH | c.-30+189G>A (n.-30+189G>A)
| gnomAD v4 |
15 | g.80152734G>T | CA2629872730 | FAH | c.-30+189G>T (n.-30+189G>T)
| gnomAD v4 |
15 | g.80152735_80152736del | CA971894179 | FAH | c.-30+190_-30+191del (n.-30+190_-30+191del)
| gnomAD v3 gnomAD v4 |
15 | g.80152735A= | CA2190327235 | FAH | c.-30+190A= (n.-30+190A=)
| |
15 | g.80152735A>C | CA971894180 | FAH | c.-30+190A>C (n.-30+190A>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152735A>G | CA2190327236 | FAH | c.-30+190A>G (n.-30+190A>G)
| dbSNP gnomAD v4 |
15 | g.80152735_80152743del | CA2552782731 | FAH | c.-30+190_-30+198del (n.-30+190_-30+198del)
| |
15 | g.80152736G>A | CA2629872731 | FAH | c.-30+191G>A (n.-30+191G>A)
| gnomAD v4 |
15 | g.80152736G>T | CA2804915110 | FAH | c.-30+191G>T (n.-30+191G>T)
| |
15 | g.80152737dup | CA716102492 | FAH | c.-30+192dup (n.-30+192dup)
| dbSNP |
15 | g.80152738A= | CA2190327240 | FAH | c.-30+193A= (n.-30+193A=)
| |
15 | g.80152738A>C | CA2629872732 | FAH | c.-30+193A>C (n.-30+193A>C)
| gnomAD v4 |
15 | g.80152738A>G | CA971894184 | FAH | c.-30+193A>G (n.-30+193A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152738A>T | CA716102494 | FAH | c.-30+193A>T (n.-30+193A>T)
| dbSNP |
15 | g.80152739G>A | CA2804915112 | FAH | c.-30+194G>A (n.-30+194G>A)
| |
15 | g.80152740A= | CA2190327242 | FAH | c.-30+195A= (n.-30+195A=)
| |
15 | g.80152740A>C | CA2629872733 | FAH | c.-30+195A>C (n.-30+195A>C)
| gnomAD v4 |
15 | g.80152740A>G | CA971894188 | FAH | c.-30+195A>G (n.-30+195A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152740A>T | CA2629872734 | FAH | c.-30+195A>T (n.-30+195A>T)
| gnomAD v4 |
15 | g.80152740_80152744del | CA971894186 | FAH | c.-30+195_-30+199del (n.-30+195_-30+199del)
| gnomAD v3 gnomAD v4 |
15 | g.80152741G>C | CA2629872735 | FAH | c.-30+196G>C (n.-30+196G>C)
| gnomAD v4 |
15 | g.80152741G= | CA2190327244 | FAH | c.-30+196G= (n.-30+196G=)
| |
15 | g.80152741G>T | CA971894204 | FAH | c.-30+196G>T (n.-30+196G>T)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152742A= | CA2190327246 | FAH | c.-30+197A= (n.-30+197A=)
| |
15 | g.80152742A>C | CA2190327248 | FAH | c.-30+197A>C (n.-30+197A>C)
| dbSNP gnomAD v4 |
15 | g.80152742A>G | CA2629872736 | FAH | c.-30+197A>G (n.-30+197A>G)
| gnomAD v4 |
15 | g.80152743C= | CA2190327250 | FAH | c.-30+198C= (n.-30+198C=)
| |
15 | g.80152743C>G | CA2190327251 | FAH | c.-30+198C>G (n.-30+198C>G)
| dbSNP |
15 | g.80152743_80152745delinsCTG | CA2190327253 | FAH | c.-30+198_-30+200delinsCTG (n.-30+198_-30+200delinsCTG)
| |
15 | g.80152744T>A | CA716102496 | FAH | c.-30+199T>A (n.-30+199T>A)
| dbSNP gnomAD v4 |
15 | g.80152744T>G | CA2190327256 | FAH | c.-30+199T>G (n.-30+199T>G)
| dbSNP |
15 | g.80152744T= | CA2190327259 | FAH | c.-30+199T= (n.-30+199T=)
| |
15 | g.80152744_80152745del | CA2190327258 | FAH | c.-30+199_-30+200del (n.-30+199_-30+200del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152744_80152745dup | CA716102495 | FAH | c.-30+199_-30+200dup (n.-30+199_-30+200dup)
| dbSNP |
15 | g.80152755_80152823del | CA971894207 | FAH | c.-30+210_-29-203del (n.-30+210_-29-203del)
| gnomAD v3 gnomAD v4 |
15 | g.80152746_80152806del | CA2509358163 | FAH | c.-30+201_-29-220del (n.-30+201_-29-220del)
| |
15 | g.80152747A>G | CA971894210 | FAH | c.-30+202A>G (n.-30+202A>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152748G>A | CA2629872737 | FAH | c.-30+203G>A (n.-30+203G>A)
| gnomAD v4 |
15 | g.80152750_80152803del | CA971894213 | FAH | c.-30+205_-29-223del (n.-30+205_-29-223del)
| gnomAD v3 gnomAD v4 |
15 | g.80152749G>C | CA2190327264 | FAH | c.-30+204G>C (n.-30+204G>C)
| dbSNP |
15 | g.80152749G= | CA2190327263 | FAH | c.-30+204G= (n.-30+204G=)
| |
15 | g.80152749G>T | CA2190327266 | FAH | c.-30+204G>T (n.-30+204G>T)
| dbSNP |
15 | g.80152752C= | CA2190327268 | FAH | c.-30+207C= (n.-30+207C=)
| |
15 | g.80152752C>T | CA619266172 | FAH | c.-30+207C>T (n.-30+207C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152753T>C | CA716102498 | FAH | c.-30+208T>C (n.-30+208T>C)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152753T>G | CA716102499 | FAH | c.-30+208T>G (n.-30+208T>G)
| dbSNP gnomAD v4 |
15 | g.80152753T= | CA2190327271 | FAH | c.-30+208T= (n.-30+208T=)
| |
15 | g.80152754G>A | CA2629872738 | FAH | c.-30+209G>A (n.-30+209G>A)
| gnomAD v4 |
15 | g.80152755A= | CA2190327274 | FAH | c.-30+210A= (n.-30+210A=)
| |
15 | g.80152755A>G | CA716102501 | FAH | c.-30+210A>G (n.-30+210A>G)
| dbSNP gnomAD v4 |
15 | g.80152756G>A | CA2629872739 | FAH | c.-30+211G>A (n.-30+211G>A)
| gnomAD v4 |
15 | g.80152756G>T | CA2596753506 | FAH | c.-30+211G>T (n.-30+211G>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152757G>T | CA2629872740 | FAH | c.-30+212G>T (n.-30+212G>T)
| gnomAD v4 |
15 | g.80152758C>A | CA2190327278 | FAH | c.-30+213C>A (n.-30+213C>A)
| dbSNP gnomAD v4 |
15 | g.80152758C= | CA2190327277 | FAH | c.-30+213C= (n.-30+213C=)
| |
15 | g.80152758C>G | CA2629872743 | FAH | c.-30+213C>G (n.-30+213C>G)
| gnomAD v4 |
15 | g.80152758C>T | CA2629872741 | FAH | c.-30+213C>T (n.-30+213C>T)
| gnomAD v4 |
15 | g.80152760del | CA2629872742 | FAH | c.-30+215del (n.-30+215del)
| gnomAD v4 |
15 | g.80152759C= | CA2190327280 | FAH | c.-30+214C= (n.-30+214C=)
| |
15 | g.80152759C>T | CA716102506 | FAH | c.-30+214C>T (n.-30+214C>T)
| dbSNP |
15 | g.80152760C= | CA2190327281 | FAH | c.-30+215C= (n.-30+215C=)
| |
15 | g.80152760C>T | CA2190327282 | FAH | c.-30+215C>T (n.-30+215C>T)
| dbSNP gnomAD v4 |
15 | g.80152762_80152960del | CA971894216 | FAH | c.-30+217_-29-66del (n.-30+217_-29-66del)
| gnomAD v3 gnomAD v4 |
15 | g.80152761A= | CA2190327284 | FAH | c.-30+216A= (n.-30+216A=)
| |
15 | g.80152761A>G | CA716102508 | FAH | c.-30+216A>G (n.-30+216A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152761A>T | CA2629872744 | FAH | c.-30+216A>T (n.-30+216A>T)
| gnomAD v4 |
15 | g.80152762C>A | CA2629872745 | FAH | c.-30+217C>A (n.-30+217C>A)
| gnomAD v4 |
15 | g.80152762C= | CA2190327291 | FAH | c.-30+217C= (n.-30+217C=)
| |
15 | g.80152762C>G | CA971894234 | FAH | c.-30+217C>G (n.-30+217C>G)
| gnomAD v3 gnomAD v4 |
15 | g.80152762C>T | CA2190327293 | FAH | c.-30+217C>T (n.-30+217C>T)
| dbSNP gnomAD v4 |
15 | g.80152767_80152772dup | CA971894222 | FAH | c.-30+222_-30+227dup (n.-30+222_-30+227dup)
| gnomAD v3 gnomAD v4 |
15 | g.80152763_80152774dup | CA619266173 | FAH | c.-30+218_-30+229dup (n.-30+218_-30+229dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152768_80152836del | CA2516799887 | FAH | c.-30+223_-29-190del (n.-30+223_-29-190del)
| |
15 | g.80152773_80152880del | CA971894227 | FAH | c.-30+228_-29-146del (n.-30+228_-29-146del)
| gnomAD v3 gnomAD v4 |
15 | g.80152763G>A | CA716102519 | FAH | c.-30+218G>A (n.-30+218G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152763G= | CA2190327297 | FAH | c.-30+218G= (n.-30+218G=)
| |
15 | g.80152763G>T | CA2629872747 | FAH | c.-30+218G>T (n.-30+218G>T)
| gnomAD v4 |
15 | g.80152767del | CA2629872746 | FAH | c.-30+222del (n.-30+222del)
| gnomAD v4 |
15 | g.80152775_80152973del | CA971894236 | FAH | c.-30+230_-29-53del (n.-30+230_-29-53del)
| gnomAD v3 gnomAD v4 |
15 | g.80152764G>A | CA2629872749 | FAH | c.-30+219G>A (n.-30+219G>A)
| gnomAD v4 |
15 | g.80152764G>T | CA2629872750 | FAH | c.-30+219G>T (n.-30+219G>T)
| gnomAD v4 |
15 | g.80152774_80152785del | CA2629872748 | FAH | c.-30+229_-29-241del (n.-30+229_-29-241del)
| gnomAD v4 |
15 | g.80152774_80152790dup | CA619266174 | FAH | c.-30+229_-29-236dup (n.-30+229_-29-236dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152765G>A | CA2629872751 | FAH | c.-30+220G>A (n.-30+220G>A)
| gnomAD v4 |
15 | g.80152765G>C | CA716102529 | FAH | c.-30+220G>C (n.-30+220G>C)
| dbSNP |
15 | g.80152765G= | CA2190327307 | FAH | c.-30+220G= (n.-30+220G=)
| |
15 | g.80152765G>T | CA619266175 | FAH | c.-30+220G>T (n.-30+220G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80152766G>A | CA971894242 | FAH | c.-30+221G>A (n.-30+221G>A)
| gnomAD v3 gnomAD v4 |
15 | g.80152766G>C | CA2629872753 | FAH | c.-30+221G>C (n.-30+221G>C)
| gnomAD v4 |
15 | g.80152773_80152835del | CA2629872752 | FAH | c.-30+228_-29-191del (n.-30+228_-29-191del)
| gnomAD v4 |
15 | g.80152767G>A | CA2629872754 | FAH | c.-30+222G>A (n.-30+222G>A)
| gnomAD v4 |
15 | g.80152767G= | CA2190327312 | FAH | c.-30+222G= (n.-30+222G=)
| |
15 | g.80152767G>T | CA2190327313 | FAH | c.-30+222G>T (n.-30+222G>T)
| dbSNP |
15 | g.80152768C= | CA2190327320 | FAH | c.-30+223C= (n.-30+223C=)
| |
15 | g.80152768C>G | CA274010763 | FAH | c.-30+223C>G (n.-30+223C>G)
| dbSNP |
15 | g.80152768C>T | CA971894244 | FAH | c.-30+223C>T (n.-30+223C>T)
| gnomAD v3 gnomAD v4 |
15 | g.80152769G>A | CA971894247 | FAH | c.-30+224G>A (n.-30+224G>A)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152769G>C | CA971894248 | FAH | c.-30+224G>C (n.-30+224G>C)
| gnomAD v3 gnomAD v4 |
15 | g.80152769G= | CA2190327325 | FAH | c.-30+224G= (n.-30+224G=)
| |
15 | g.80152769G>T | CA2629872755 | FAH | c.-30+224G>T (n.-30+224G>T)
| gnomAD v4 |
15 | g.80152770G>A | CA2629872756 | FAH | c.-30+225G>A (n.-30+225G>A)
| gnomAD v4 |
15 | g.80152771G>A | CA2190327333 | FAH | c.-30+226G>A (n.-30+226G>A)
| dbSNP gnomAD v4 |
15 | g.80152771G= | CA2190327331 | FAH | c.-30+226G= (n.-30+226G=)
| |
15 | g.80152771G>T | CA2629872757 | FAH | c.-30+226G>T (n.-30+226G>T)
| gnomAD v4 |
15 | g.80152772G>A | CA2629872758 | FAH | c.-30+227G>A (n.-30+227G>A)
| gnomAD v4 |
15 | g.80152772G>C | CA2629872759 | FAH | c.-30+227G>C (n.-30+227G>C)
| gnomAD v4 |
15 | g.80152773_80152774del | CA2629872760 | FAH | c.-30+228_-30+229del (n.-30+228_-30+229del)
| gnomAD v4 |
15 | g.80152774C>A | CA716102534 | FAH | c.-30+229C>A (n.-30+229C>A)
| dbSNP |
15 | g.80152774C= | CA2190327336 | FAH | c.-30+229C= (n.-30+229C=)
| |
15 | g.80152774C>G | CA2629872761 | FAH | c.-30+229C>G (n.-30+229C>G)
| gnomAD v4 |
15 | g.80152774_80152775insGGGCCTGACCAC | CA971894253 | FAH | c.-30+229_-30+230insGGGCCTGACCAC (n.-30+229_-30+230insGGGCCTGACCAC)
| gnomAD v3 gnomAD v4 |
15 | g.80152774_80152775delinsCA | CA2190327338 | FAH | c.-30+229_-30+230delinsCA (n.-30+229_-30+230delinsCA)
| |
15 | g.80152775del | CA971894254 | FAH | c.-30+230del (n.-30+230del)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152775A= | CA2190327346 | FAH | c.-30+230A= (n.-30+230A=)
| |
15 | g.80152775A>C | CA2629872762 | FAH | c.-30+230A>C (n.-30+230A>C)
| gnomAD v4 |
15 | g.80152775A>G | CA274010766 | FAH | c.-30+230A>G (n.-30+230A>G)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.80152775A>T | CA2629872763 | FAH | c.-30+230A>T (n.-30+230A>T)
| gnomAD v4 |
15 | g.80152775_80152776del | CA971894255 | FAH | c.-30+230_-30+231del (n.-30+230_-30+231del)
| gnomAD v3 gnomAD v4 |