Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.32063148_32067182del | CA339677 | ClinVar | ||
2 | g.32063720_32066025del | CA325517 | SPAST | c.-112_446del c.-112_415+1779del | ClinVar |
2 | g.32064127_32064444del | CA2573134600 | SPAST | c.296_415+198del c.180_299+198del c.166_285+198del c.38_157+198del c.172_291+198del c.137_256+198del c.130_249+198del | ClinVar dbSNP |
2 | g.32064259_32064293del | CA2658519927 | SPAST | c.415+13_415+47del (n.415+13_415+47del) c.299+13_299+47del c.285+13_285+47del c.157+13_157+47del (n.157+13_157+47del) c.291+13_291+47del c.256+13_256+47del (n.256+13_256+47del) c.36+13_36+47del c.249+13_249+47del | gnomAD v4 |
2 | g.32064262_32064335del | CA2658519931 | SPAST | c.415+16_415+89del (n.415+16_415+89del) c.299+16_299+89del c.285+16_285+89del c.157+16_157+89del (n.157+16_157+89del) c.291+16_291+89del c.256+16_256+89del (n.256+16_256+89del) c.36+16_36+89del c.249+16_249+89del | gnomAD v4 |
2 | g.32064260_32064300del | CA2658519933 | SPAST | c.415+14_415+54del (n.415+14_415+54del) c.299+14_299+54del c.285+14_285+54del c.157+14_157+54del (n.157+14_157+54del) c.291+14_291+54del c.256+14_256+54del (n.256+14_256+54del) c.36+14_36+54del c.249+14_249+54del | gnomAD v4 |
2 | g.32064270_32064313del | CA1028990153 | SPAST | c.415+24_415+67del (n.415+24_415+67del) c.299+24_299+67del c.285+24_285+67del c.157+24_157+67del (n.157+24_157+67del) c.291+24_291+67del c.256+24_256+67del (n.256+24_256+67del) c.36+24_36+67del c.249+24_249+67del | gnomAD v3 gnomAD v4 |
2 | g.32064264_32064313del | CA2658519937 | SPAST | c.415+18_415+67del (n.415+18_415+67del) c.299+18_299+67del c.285+18_285+67del c.157+18_157+67del (n.157+18_157+67del) c.291+18_291+67del c.256+18_256+67del (n.256+18_256+67del) c.36+18_36+67del c.249+18_249+67del | gnomAD v4 |
2 | g.32064266_32064308del | CA2658519949 | SPAST | c.415+20_415+62del (n.415+20_415+62del) c.299+20_299+62del c.285+20_285+62del c.157+20_157+62del (n.157+20_157+62del) c.291+20_291+62del c.256+20_256+62del (n.256+20_256+62del) c.36+20_36+62del c.249+20_249+62del | gnomAD v4 |
2 | g.32064266_32064298del | CA2658519955 | SPAST | c.415+20_415+52del (n.415+20_415+52del) c.299+20_299+52del c.285+20_285+52del c.157+20_157+52del (n.157+20_157+52del) c.291+20_291+52del c.256+20_256+52del (n.256+20_256+52del) c.36+20_36+52del c.249+20_249+52del | gnomAD v4 |
2 | g.32064271_32064344del | CA2658519954 | SPAST | c.415+25_415+98del (n.415+25_415+98del) c.299+25_299+98del c.285+25_285+98del c.157+25_157+98del (n.157+25_157+98del) c.291+25_291+98del c.256+25_256+98del (n.256+25_256+98del) c.36+25_36+98del c.249+25_249+98del | gnomAD v4 |
2 | g.32064266_32064294del | CA2658519960 | SPAST | c.415+20_415+48del (n.415+20_415+48del) c.299+20_299+48del c.285+20_285+48del c.157+20_157+48del (n.157+20_157+48del) c.291+20_291+48del c.256+20_256+48del (n.256+20_256+48del) c.36+20_36+48del c.249+20_249+48del | gnomAD v4 |
2 | g.32064266_32064297del | CA2658519961 | SPAST | c.415+20_415+51del (n.415+20_415+51del) c.299+20_299+51del c.285+20_285+51del c.157+20_157+51del (n.157+20_157+51del) c.291+20_291+51del c.256+20_256+51del (n.256+20_256+51del) c.36+20_36+51del c.249+20_249+51del | gnomAD v4 |
2 | g.32064266_32064293del | CA2658519966 | SPAST | c.415+20_415+47del (n.415+20_415+47del) c.299+20_299+47del c.285+20_285+47del c.157+20_157+47del (n.157+20_157+47del) c.291+20_291+47del c.256+20_256+47del (n.256+20_256+47del) c.36+20_36+47del c.249+20_249+47del | gnomAD v4 |
2 | g.32064266_32064296del | CA2658519965 | SPAST | c.415+20_415+50del (n.415+20_415+50del) c.299+20_299+50del c.285+20_285+50del c.157+20_157+50del (n.157+20_157+50del) c.291+20_291+50del c.256+20_256+50del (n.256+20_256+50del) c.36+20_36+50del c.249+20_249+50del | gnomAD v4 |
2 | g.32064266_32064295del | CA2658519969 | SPAST | c.415+20_415+49del (n.415+20_415+49del) c.299+20_299+49del c.285+20_285+49del c.157+20_157+49del (n.157+20_157+49del) c.291+20_291+49del c.256+20_256+49del (n.256+20_256+49del) c.36+20_36+49del c.249+20_249+49del | gnomAD v4 |
2 | g.32064272_32064299del | CA2658519984 | SPAST | c.415+26_415+53del (n.415+26_415+53del) c.299+26_299+53del c.285+26_285+53del c.157+26_157+53del (n.157+26_157+53del) c.291+26_291+53del c.256+26_256+53del (n.256+26_256+53del) c.36+26_36+53del c.249+26_249+53del | gnomAD v4 |
2 | g.32064272_32064298del | CA2658519986 | SPAST | c.415+26_415+52del (n.415+26_415+52del) c.299+26_299+52del c.285+26_285+52del c.157+26_157+52del (n.157+26_157+52del) c.291+26_291+52del c.256+26_256+52del (n.256+26_256+52del) c.36+26_36+52del c.249+26_249+52del | gnomAD v4 |
2 | g.32064272_32064297del | CA2658519991 | SPAST | c.415+26_415+51del (n.415+26_415+51del) c.299+26_299+51del c.285+26_285+51del c.157+26_157+51del (n.157+26_157+51del) c.291+26_291+51del c.256+26_256+51del (n.256+26_256+51del) c.36+26_36+51del c.249+26_249+51del | gnomAD v4 |
2 | g.32064272_32064293del | CA2658519995 | SPAST | c.415+26_415+47del (n.415+26_415+47del) c.299+26_299+47del c.285+26_285+47del c.157+26_157+47del (n.157+26_157+47del) c.291+26_291+47del c.256+26_256+47del (n.256+26_256+47del) c.36+26_36+47del c.249+26_249+47del | gnomAD v4 |
2 | g.32064271_32064314del | CA2658519996 | SPAST | c.415+25_415+68del (n.415+25_415+68del) c.299+25_299+68del c.285+25_285+68del c.157+25_157+68del (n.157+25_157+68del) c.291+25_291+68del c.256+25_256+68del (n.256+25_256+68del) c.36+25_36+68del c.249+25_249+68del | gnomAD v4 |
2 | g.32064272_32064292del | CA2658520004 | SPAST | c.415+26_415+46del (n.415+26_415+46del) c.299+26_299+46del c.285+26_285+46del c.157+26_157+46del (n.157+26_157+46del) c.291+26_291+46del c.256+26_256+46del (n.256+26_256+46del) c.36+26_36+46del c.249+26_249+46del | gnomAD v4 |
2 | g.32064272_32064295del | CA2658520003 | SPAST | c.415+26_415+49del (n.415+26_415+49del) c.299+26_299+49del c.285+26_285+49del c.157+26_157+49del (n.157+26_157+49del) c.291+26_291+49del c.256+26_256+49del (n.256+26_256+49del) c.36+26_36+49del c.249+26_249+49del | gnomAD v4 |
2 | g.32064273_32064333del | CA2658519999 | SPAST | c.415+27_415+87del (n.415+27_415+87del) c.299+27_299+87del c.285+27_285+87del c.157+27_157+87del (n.157+27_157+87del) c.291+27_291+87del c.256+27_256+87del (n.256+27_256+87del) c.36+27_36+87del c.249+27_249+87del | gnomAD v4 |
2 | g.32064275_32064348del | CA2658520002 | SPAST | c.415+29_415+102del (n.415+29_415+102del) c.299+29_299+102del c.285+29_285+102del c.157+29_157+102del (n.157+29_157+102del) c.291+29_291+102del c.256+29_256+102del (n.256+29_256+102del) c.36+29_36+102del c.249+29_249+102del | gnomAD v4 |
2 | g.32064273_32064300del | CA2658520009 | SPAST | c.415+27_415+54del (n.415+27_415+54del) c.299+27_299+54del c.285+27_285+54del c.157+27_157+54del (n.157+27_157+54del) c.291+27_291+54del c.256+27_256+54del (n.256+27_256+54del) c.36+27_36+54del c.249+27_249+54del | gnomAD v4 |
2 | g.32064273_32064309del | CA2658520014 | SPAST | c.415+27_415+63del (n.415+27_415+63del) c.299+27_299+63del c.285+27_285+63del c.157+27_157+63del (n.157+27_157+63del) c.291+27_291+63del c.256+27_256+63del (n.256+27_256+63del) c.36+27_36+63del c.249+27_249+63del | gnomAD v4 |
2 | g.32064273_32064345del | CA2658520013 | SPAST | c.415+27_415+99del (n.415+27_415+99del) c.299+27_299+99del c.285+27_285+99del c.157+27_157+99del (n.157+27_157+99del) c.291+27_291+99del c.256+27_256+99del (n.256+27_256+99del) c.36+27_36+99del c.249+27_249+99del | gnomAD v4 |
2 | g.32064275_32064296del | CA2658520024 | SPAST | c.415+29_415+50del (n.415+29_415+50del) c.299+29_299+50del c.285+29_285+50del c.157+29_157+50del (n.157+29_157+50del) c.291+29_291+50del c.256+29_256+50del (n.256+29_256+50del) c.36+29_36+50del c.249+29_249+50del | gnomAD v4 |
2 | g.32064274_32064303del | CA2658520023 | SPAST | c.415+28_415+57del (n.415+28_415+57del) c.299+28_299+57del c.285+28_285+57del c.157+28_157+57del (n.157+28_157+57del) c.291+28_291+57del c.256+28_256+57del (n.256+28_256+57del) c.36+28_36+57del c.249+28_249+57del | gnomAD v4 |
2 | g.32064275_32064305del | CA2658520022 | SPAST | c.415+29_415+59del (n.415+29_415+59del) c.299+29_299+59del c.285+29_285+59del c.157+29_157+59del (n.157+29_157+59del) c.291+29_291+59del c.256+29_256+59del (n.256+29_256+59del) c.36+29_36+59del c.249+29_249+59del | gnomAD v4 |
2 | g.32064275_32064295del | CA2658520029 | SPAST | c.415+29_415+49del (n.415+29_415+49del) c.299+29_299+49del c.285+29_285+49del c.157+29_157+49del (n.157+29_157+49del) c.291+29_291+49del c.256+29_256+49del (n.256+29_256+49del) c.36+29_36+49del c.249+29_249+49del | gnomAD v4 |
2 | g.32064276_32064300del | CA2658520036 | SPAST | c.415+30_415+54del (n.415+30_415+54del) c.299+30_299+54del c.285+30_285+54del c.157+30_157+54del (n.157+30_157+54del) c.291+30_291+54del c.256+30_256+54del (n.256+30_256+54del) c.36+30_36+54del c.249+30_249+54del | gnomAD v4 |
2 | g.32064278_32064296del | CA2658520039 | SPAST | c.415+32_415+50del (n.415+32_415+50del) c.299+32_299+50del c.285+32_285+50del c.157+32_157+50del (n.157+32_157+50del) c.291+32_291+50del c.256+32_256+50del (n.256+32_256+50del) c.36+32_36+50del c.249+32_249+50del | gnomAD v4 |
2 | g.32064277_32064303del | CA2658520040 | SPAST | c.415+31_415+57del (n.415+31_415+57del) c.299+31_299+57del c.285+31_285+57del c.157+31_157+57del (n.157+31_157+57del) c.291+31_291+57del c.256+31_256+57del (n.256+31_256+57del) c.36+31_36+57del c.249+31_249+57del | gnomAD v4 |
2 | g.32064278_32064305del | CA2658520041 | SPAST | c.415+32_415+59del (n.415+32_415+59del) c.299+32_299+59del c.285+32_285+59del c.157+32_157+59del (n.157+32_157+59del) c.291+32_291+59del c.256+32_256+59del (n.256+32_256+59del) c.36+32_36+59del c.249+32_249+59del | gnomAD v4 |
2 | g.32064278_32064295del | CA2658520046 | SPAST | c.415+32_415+49del (n.415+32_415+49del) c.299+32_299+49del c.285+32_285+49del c.157+32_157+49del (n.157+32_157+49del) c.291+32_291+49del c.256+32_256+49del (n.256+32_256+49del) c.36+32_36+49del c.249+32_249+49del | gnomAD v4 |
2 | g.32064278_32064304del | CA2840092946 | SPAST | c.415+32_415+58del (n.415+32_415+58del) c.299+32_299+58del c.285+32_285+58del c.157+32_157+58del (n.157+32_157+58del) c.291+32_291+58del c.256+32_256+58del (n.256+32_256+58del) c.36+32_36+58del c.249+32_249+58del | |
2 | g.32064285_32064307del | CA2595218024 | SPAST | c.415+39_415+61del (n.415+39_415+61del) c.299+39_299+61del c.285+39_285+61del c.157+39_157+61del (n.157+39_157+61del) c.291+39_291+61del c.256+39_256+61del (n.256+39_256+61del) c.36+39_36+61del c.249+39_249+61del | gnomAD v3 gnomAD v4 |
2 | g.32064280_32064290del | CA2658520052 | SPAST | c.415+34_415+44del (n.415+34_415+44del) c.299+34_299+44del c.285+34_285+44del c.157+34_157+44del (n.157+34_157+44del) c.291+34_291+44del c.256+34_256+44del (n.256+34_256+44del) c.36+34_36+44del c.249+34_249+44del | gnomAD v4 |
2 | g.32064280_32064289del | CA2658520056 | SPAST | c.415+34_415+43del (n.415+34_415+43del) c.299+34_299+43del c.285+34_285+43del c.157+34_157+43del (n.157+34_157+43del) c.291+34_291+43del c.256+34_256+43del (n.256+34_256+43del) c.36+34_36+43del c.249+34_249+43del | gnomAD v4 |
2 | g.32064280_32064304del | CA2658520058 | SPAST | c.415+34_415+58del (n.415+34_415+58del) c.299+34_299+58del c.285+34_285+58del c.157+34_157+58del (n.157+34_157+58del) c.291+34_291+58del c.256+34_256+58del (n.256+34_256+58del) c.36+34_36+58del c.249+34_249+58del | gnomAD v4 |
2 | g.32064281_32064304del | CA2658520057 | SPAST | c.415+35_415+58del (n.415+35_415+58del) c.299+35_299+58del c.285+35_285+58del c.157+35_157+58del (n.157+35_157+58del) c.291+35_291+58del c.256+35_256+58del (n.256+35_256+58del) c.36+35_36+58del c.249+35_249+58del | gnomAD v4 |
2 | g.32064281_32064295del | CA2658520071 | SPAST | c.415+35_415+49del (n.415+35_415+49del) c.299+35_299+49del c.285+35_285+49del c.157+35_157+49del (n.157+35_157+49del) c.291+35_291+49del c.256+35_256+49del (n.256+35_256+49del) c.36+35_36+49del c.249+35_249+49del | gnomAD v4 |
2 | g.32064283_32064291del | CA2658520076 | SPAST | c.415+37_415+45del (n.415+37_415+45del) c.299+37_299+45del c.285+37_285+45del c.157+37_157+45del (n.157+37_157+45del) c.291+37_291+45del c.256+37_256+45del (n.256+37_256+45del) c.36+37_36+45del c.249+37_249+45del | gnomAD v4 |
2 | g.32064285_32064298del | CA2535468555 | SPAST | c.415+39_415+52del (n.415+39_415+52del) c.299+39_299+52del c.285+39_285+52del c.157+39_157+52del (n.157+39_157+52del) c.291+39_291+52del c.256+39_256+52del (n.256+39_256+52del) c.36+39_36+52del c.249+39_249+52del | |
2 | g.32064282_32064302del | CA2658520075 | SPAST | c.415+36_415+56del (n.415+36_415+56del) c.299+36_299+56del c.285+36_285+56del c.157+36_157+56del (n.157+36_157+56del) c.291+36_291+56del c.256+36_256+56del (n.256+36_256+56del) c.36+36_36+56del c.249+36_249+56del | gnomAD v4 |
2 | g.32064283_32064303del | CA2658520080 | SPAST | c.415+37_415+57del (n.415+37_415+57del) c.299+37_299+57del c.285+37_285+57del c.157+37_157+57del (n.157+37_157+57del) c.291+37_291+57del c.256+37_256+57del (n.256+37_256+57del) c.36+37_36+57del c.249+37_249+57del | gnomAD v4 |
2 | g.32064285_32064306del | CA2658520081 | SPAST | c.415+39_415+60del (n.415+39_415+60del) c.299+39_299+60del c.285+39_285+60del c.157+39_157+60del (n.157+39_157+60del) c.291+39_291+60del c.256+39_256+60del (n.256+39_256+60del) c.36+39_36+60del c.249+39_249+60del | gnomAD v4 |
2 | g.32064285_32064302del | CA2658520083 | SPAST | c.415+39_415+56del (n.415+39_415+56del) c.299+39_299+56del c.285+39_285+56del c.157+39_157+56del (n.157+39_157+56del) c.291+39_291+56del c.256+39_256+56del (n.256+39_256+56del) c.36+39_36+56del c.249+39_249+56del | gnomAD v4 |
2 | g.32064285_32064289del | CA2658520093 | SPAST | c.415+39_415+43del (n.415+39_415+43del) c.299+39_299+43del c.285+39_285+43del c.157+39_157+43del (n.157+39_157+43del) c.291+39_291+43del c.256+39_256+43del (n.256+39_256+43del) c.36+39_36+43del c.249+39_249+43del | gnomAD v4 |
2 | g.32064285_32064292del | CA2658520091 | SPAST | c.415+39_415+46del (n.415+39_415+46del) c.299+39_299+46del c.285+39_285+46del c.157+39_157+46del (n.157+39_157+46del) c.291+39_291+46del c.256+39_256+46del (n.256+39_256+46del) c.36+39_36+46del c.249+39_249+46del | gnomAD v4 |
2 | g.32064285_32064295del | CA2658520090 | SPAST | c.415+39_415+49del (n.415+39_415+49del) c.299+39_299+49del c.285+39_285+49del c.157+39_157+49del (n.157+39_157+49del) c.291+39_291+49del c.256+39_256+49del (n.256+39_256+49del) c.36+39_36+49del c.249+39_249+49del | gnomAD v4 |
2 | g.32064285_32064300del | CA2658520089 | SPAST | c.415+39_415+54del (n.415+39_415+54del) c.299+39_299+54del c.285+39_285+54del c.157+39_157+54del (n.157+39_157+54del) c.291+39_291+54del c.256+39_256+54del (n.256+39_256+54del) c.36+39_36+54del c.249+39_249+54del | gnomAD v4 |
2 | g.32064285_32064304del | CA2658520088 | SPAST | c.415+39_415+58del (n.415+39_415+58del) c.299+39_299+58del c.285+39_285+58del c.157+39_157+58del (n.157+39_157+58del) c.291+39_291+58del c.256+39_256+58del (n.256+39_256+58del) c.36+39_36+58del c.249+39_249+58del | gnomAD v4 |
2 | g.32064287_32064288del | CA2658520102 | SPAST | c.415+41_415+42del (n.415+41_415+42del) c.299+41_299+42del c.285+41_285+42del c.157+41_157+42del (n.157+41_157+42del) c.291+41_291+42del c.256+41_256+42del (n.256+41_256+42del) c.36+41_36+42del c.249+41_249+42del | gnomAD v4 |
2 | g.32064286_32064300del | CA2658520103 | SPAST | c.415+40_415+54del (n.415+40_415+54del) c.299+40_299+54del c.285+40_285+54del c.157+40_157+54del (n.157+40_157+54del) c.291+40_291+54del c.256+40_256+54del (n.256+40_256+54del) c.36+40_36+54del c.249+40_249+54del | gnomAD v4 |
2 | g.32064287G>A | CA2658520109 | SPAST | c.415+41G>A (n.415+41G>A) c.299+41G>A c.285+41G>A c.157+41G>A (n.157+41G>A) c.291+41G>A c.256+41G>A (n.256+41G>A) c.36+41G>A c.249+41G>A | gnomAD v4 |
2 | g.32064287G>C | CA2658520108 | SPAST | c.415+41G>C (n.415+41G>C) c.299+41G>C c.285+41G>C c.157+41G>C (n.157+41G>C) c.291+41G>C c.256+41G>C (n.256+41G>C) c.36+41G>C c.249+41G>C | gnomAD v4 |
2 | g.32064287G>T | CA2658520107 | SPAST | c.415+41G>T (n.415+41G>T) c.299+41G>T c.285+41G>T c.157+41G>T (n.157+41G>T) c.291+41G>T c.256+41G>T (n.256+41G>T) c.36+41G>T c.249+41G>T | gnomAD v4 |
2 | g.32064287dup | CA2658520106 | SPAST | c.415+41dup (n.415+41dup) c.299+41dup c.285+41dup c.157+41dup (n.157+41dup) c.291+41dup c.256+41dup (n.256+41dup) c.36+41dup c.249+41dup | gnomAD v4 |
2 | g.32064287_32064288insTC | CA2658520117 | SPAST | c.415+41_415+42insTC (n.415+41_415+42insTC) c.299+41_299+42insTC c.285+41_285+42insTC c.157+41_157+42insTC (n.157+41_157+42insTC) c.291+41_291+42insTC c.256+41_256+42insTC (n.256+41_256+42insTC) c.36+41_36+42insTC c.249+41_249+42insTC | gnomAD v4 |
2 | g.32064288A= | CA1242461868 | SPAST | c.415+42A= (n.415+42A=) c.299+42A= c.285+42A= c.157+42A= (n.157+42A=) c.291+42A= c.256+42A= (n.256+42A=) c.36+42A= c.249+42A= | |
2 | g.32064288A>C | CA2658520118 | SPAST | c.415+42A>C (n.415+42A>C) c.299+42A>C c.285+42A>C c.157+42A>C (n.157+42A>C) c.291+42A>C c.256+42A>C (n.256+42A>C) c.36+42A>C c.249+42A>C | gnomAD v4 |
2 | g.32064288A>G | CA45201416 | SPAST | c.415+42A>G (n.415+42A>G) c.299+42A>G c.285+42A>G c.157+42A>G (n.157+42A>G) c.291+42A>G c.256+42A>G (n.256+42A>G) c.36+42A>G c.249+42A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064288A>T | CA767739306 | SPAST | c.415+42A>T (n.415+42A>T) c.299+42A>T c.285+42A>T c.157+42A>T (n.157+42A>T) c.291+42A>T c.256+42A>T (n.256+42A>T) c.36+42A>T c.249+42A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064288_32064289del | CA2658520116 | SPAST | c.415+42_415+43del (n.415+42_415+43del) c.299+42_299+43del c.285+42_285+43del c.157+42_157+43del (n.157+42_157+43del) c.291+42_291+43del c.256+42_256+43del (n.256+42_256+43del) c.36+42_36+43del c.249+42_249+43del | gnomAD v4 |
2 | g.32064289del | CA2658520115 | SPAST | c.415+43del (n.415+43del) c.299+43del c.285+43del c.157+43del (n.157+43del) c.291+43del c.256+43del (n.256+43del) c.36+43del c.249+43del | gnomAD v4 |
2 | g.32064289A= | CA1242461869 | SPAST | c.415+43A= (n.415+43A=) c.299+43A= c.285+43A= c.157+43A= (n.157+43A=) c.291+43A= c.256+43A= (n.256+43A=) c.36+43A= c.249+43A= | |
2 | g.32064289A>C | CA2509534121 | SPAST | c.415+43A>C (n.415+43A>C) c.299+43A>C c.285+43A>C c.157+43A>C (n.157+43A>C) c.291+43A>C c.256+43A>C (n.256+43A>C) c.36+43A>C c.249+43A>C | gnomAD v4 |
2 | g.32064289A>G | CA531769498 | SPAST | c.415+43A>G (n.415+43A>G) c.299+43A>G c.285+43A>G c.157+43A>G (n.157+43A>G) c.291+43A>G c.256+43A>G (n.256+43A>G) c.36+43A>G c.249+43A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064289A>T | CA2658520119 | SPAST | c.415+43A>T (n.415+43A>T) c.299+43A>T c.285+43A>T c.157+43A>T (n.157+43A>T) c.291+43A>T c.256+43A>T (n.256+43A>T) c.36+43A>T c.249+43A>T | gnomAD v4 |
2 | g.32064289_32064290insAAG | CA2658520126 | SPAST | c.415+43_415+44insAAG (n.415+43_415+44insAAG) c.299+43_299+44insAAG c.285+43_285+44insAAG c.157+43_157+44insAAG (n.157+43_157+44insAAG) c.291+43_291+44insAAG c.256+43_256+44insAAG (n.256+43_256+44insAAG) c.36+43_36+44insAAG c.249+43_249+44insAAG | gnomAD v4 |
2 | g.32064289_32064290insCAG | CA2658520125 | SPAST | c.415+43_415+44insCAG (n.415+43_415+44insCAG) c.299+43_299+44insCAG c.285+43_285+44insCAG c.157+43_157+44insCAG (n.157+43_157+44insCAG) c.291+43_291+44insCAG c.256+43_256+44insCAG (n.256+43_256+44insCAG) c.36+43_36+44insCAG c.249+43_249+44insCAG | gnomAD v4 |
2 | g.32064290G>A | CA2556349007 | SPAST | c.415+44G>A (n.415+44G>A) c.299+44G>A c.285+44G>A c.157+44G>A (n.157+44G>A) c.291+44G>A c.256+44G>A (n.256+44G>A) c.36+44G>A c.249+44G>A | gnomAD v4 |
2 | g.32064290_32064291insAGG | CA2658520124 | SPAST | c.415+44_415+45insAGG (n.415+44_415+45insAGG) c.299+44_299+45insAGG c.285+44_285+45insAGG c.157+44_157+45insAGG (n.157+44_157+45insAGG) c.291+44_291+45insAGG c.256+44_256+45insAGG (n.256+44_256+45insAGG) c.36+44_36+45insAGG c.249+44_249+45insAGG | gnomAD v4 |
2 | g.32064291_32064292insGGGGGGGGGG | CA2658520123 | SPAST | c.415+45_415+46insGGGGGGGGGG (n.415+45_415+46insGGGGGGGGGG) c.299+45_299+46insGGGGGGGGGG c.285+45_285+46insGGGGGGGGGG c.157+45_157+46insGGGGGGGGGG (n.157+45_157+46insGGGGGGGGGG) c.291+45_291+46insGGGGGGGGGG c.256+45_256+46insGGGGGGGGGG (n.256+45_256+46insGGGGGGGGGG) c.36+45_36+46insGGGGGGGGGG c.249+45_249+46insGGGGGGGGGG | gnomAD v4 |
2 | g.32064291_32064292insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520122 | SPAST | c.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGG) c.299+45_299+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.285+45_285+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGG) c.291+45_291+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGG) c.36+45_36+46insGGGGGGGGGGGGGGGGGGGGGGGGG c.249+45_249+46insGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064291_32064292insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520121 | SPAST | c.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.415+45_415+46insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.299+45_299+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.285+45_285+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.157+45_157+46insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.291+45_291+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.256+45_256+46insGGGGGGGGGGGGGGGGGGGGGGGGGG) c.36+45_36+46insGGGGGGGGGGGGGGGGGGGGGGGGGG c.249+45_249+46insGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064291_32064292insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2658520120 | SPAST | c.415+45_415+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.415+45_415+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.299+45_299+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.285+45_285+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.157+45_157+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.157+45_157+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.291+45_291+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.256+45_256+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.256+45_256+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG) c.36+45_36+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG c.249+45_249+46insTAAAGGGGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v4 |
2 | g.32064291dup | CA531769499 | SPAST | c.415+45dup (n.415+45dup) c.299+45dup c.285+45dup c.157+45dup (n.157+45dup) c.291+45dup c.256+45dup (n.256+45dup) c.36+45dup c.249+45dup | gnomAD v2 gnomAD v4 |
2 | g.32064290_32064291dup | CA2840092947 | SPAST | c.415+44_415+45dup (n.415+44_415+45dup) c.299+44_299+45dup c.285+44_285+45dup c.157+44_157+45dup (n.157+44_157+45dup) c.291+44_291+45dup c.256+44_256+45dup (n.256+44_256+45dup) c.36+44_36+45dup c.249+44_249+45dup | |
2 | g.32064291G>A | CA2576929957 | SPAST | c.415+45G>A (n.415+45G>A) c.299+45G>A c.285+45G>A c.157+45G>A (n.157+45G>A) c.291+45G>A c.256+45G>A (n.256+45G>A) c.36+45G>A c.249+45G>A | gnomAD v4 |
2 | g.32064291G>C | CA2658520127 | SPAST | c.415+45G>C (n.415+45G>C) c.299+45G>C c.285+45G>C c.157+45G>C (n.157+45G>C) c.291+45G>C c.256+45G>C (n.256+45G>C) c.36+45G>C c.249+45G>C | gnomAD v4 |
2 | g.32064291G>T | CA2658520128 | SPAST | c.415+45G>T (n.415+45G>T) c.299+45G>T c.285+45G>T c.157+45G>T (n.157+45G>T) c.291+45G>T c.256+45G>T (n.256+45G>T) c.36+45G>T c.249+45G>T | gnomAD v4 |
2 | g.32064292del | CA2658520130 | SPAST | c.415+46del (n.415+46del) c.299+46del c.285+46del c.157+46del (n.157+46del) c.291+46del c.256+46del (n.256+46del) c.36+46del c.249+46del | gnomAD v4 |
2 | g.32064292C>A | CA531769500 | SPAST | c.415+46C>A (n.415+46C>A) c.299+46C>A c.285+46C>A c.157+46C>A (n.157+46C>A) c.291+46C>A c.256+46C>A (n.256+46C>A) c.36+46C>A c.249+46C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064292C= | CA1242461871 | SPAST | c.415+46C= (n.415+46C=) c.299+46C= c.285+46C= c.157+46C= (n.157+46C=) c.291+46C= c.256+46C= (n.256+46C=) c.36+46C= c.249+46C= | |
2 | g.32064292C>G | CA531769501 | SPAST | c.415+46C>G (n.415+46C>G) c.299+46C>G c.285+46C>G c.157+46C>G (n.157+46C>G) c.291+46C>G c.256+46C>G (n.256+46C>G) c.36+46C>G c.249+46C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064292C>T | CA2658520129 | SPAST | c.415+46C>T (n.415+46C>T) c.299+46C>T c.285+46C>T c.157+46C>T (n.157+46C>T) c.291+46C>T c.256+46C>T (n.256+46C>T) c.36+46C>T c.249+46C>T | gnomAD v4 |
2 | g.32064292_32064293delinsCG | CA1242461870 | SPAST | c.415+46_415+47delinsCG (n.415+46_415+47delinsCG) c.299+46_299+47delinsCG c.285+46_285+47delinsCG c.157+46_157+47delinsCG (n.157+46_157+47delinsCG) c.291+46_291+47delinsCG c.256+46_256+47delinsCG (n.256+46_256+47delinsCG) c.36+46_36+47delinsCG c.249+46_249+47delinsCG | |
2 | g.32064292_32064295del | CA2658520131 | SPAST | c.415+46_415+49del (n.415+46_415+49del) c.299+46_299+49del c.285+46_285+49del c.157+46_157+49del (n.157+46_157+49del) c.291+46_291+49del c.256+46_256+49del (n.256+46_256+49del) c.36+46_36+49del c.249+46_249+49del | gnomAD v4 |
2 | g.32064292_32064293insCCGGGAAAAAGGGG | CA2658520138 | SPAST | c.415+46_415+47insCCGGGAAAAAGGGG (n.415+46_415+47insCCGGGAAAAAGGGG) c.299+46_299+47insCCGGGAAAAAGGGG c.285+46_285+47insCCGGGAAAAAGGGG c.157+46_157+47insCCGGGAAAAAGGGG (n.157+46_157+47insCCGGGAAAAAGGGG) c.291+46_291+47insCCGGGAAAAAGGGG c.256+46_256+47insCCGGGAAAAAGGGG (n.256+46_256+47insCCGGGAAAAAGGGG) c.36+46_36+47insCCGGGAAAAAGGGG c.249+46_249+47insCCGGGAAAAAGGGG | gnomAD v4 |
2 | g.32064292_32064293insCCGGGAAAGAGGGG | CA2658520139 | SPAST | c.415+46_415+47insCCGGGAAAGAGGGG (n.415+46_415+47insCCGGGAAAGAGGGG) c.299+46_299+47insCCGGGAAAGAGGGG c.285+46_285+47insCCGGGAAAGAGGGG c.157+46_157+47insCCGGGAAAGAGGGG (n.157+46_157+47insCCGGGAAAGAGGGG) c.291+46_291+47insCCGGGAAAGAGGGG c.256+46_256+47insCCGGGAAAGAGGGG (n.256+46_256+47insCCGGGAAAGAGGGG) c.36+46_36+47insCCGGGAAAGAGGGG c.249+46_249+47insCCGGGAAAGAGGGG | gnomAD v4 |
2 | g.32064292_32064293insCCGGGGAAGAGGGG | CA2658520140 | SPAST | c.415+46_415+47insCCGGGGAAGAGGGG (n.415+46_415+47insCCGGGGAAGAGGGG) c.299+46_299+47insCCGGGGAAGAGGGG c.285+46_285+47insCCGGGGAAGAGGGG c.157+46_157+47insCCGGGGAAGAGGGG (n.157+46_157+47insCCGGGGAAGAGGGG) c.291+46_291+47insCCGGGGAAGAGGGG c.256+46_256+47insCCGGGGAAGAGGGG (n.256+46_256+47insCCGGGGAAGAGGGG) c.36+46_36+47insCCGGGGAAGAGGGG c.249+46_249+47insCCGGGGAAGAGGGG | gnomAD v4 |
2 | g.32064292_32064293insCCCGGGAAAGAGGGG | CA2658520137 | SPAST | c.415+46_415+47insCCCGGGAAAGAGGGG (n.415+46_415+47insCCCGGGAAAGAGGGG) c.299+46_299+47insCCCGGGAAAGAGGGG c.285+46_285+47insCCCGGGAAAGAGGGG c.157+46_157+47insCCCGGGAAAGAGGGG (n.157+46_157+47insCCCGGGAAAGAGGGG) c.291+46_291+47insCCCGGGAAAGAGGGG c.256+46_256+47insCCCGGGAAAGAGGGG (n.256+46_256+47insCCCGGGAAAGAGGGG) c.36+46_36+47insCCCGGGAAAGAGGGG c.249+46_249+47insCCCGGGAAAGAGGGG | gnomAD v4 |
2 | g.32064293G>A | CA2576929958 | SPAST | c.415+47G>A (n.415+47G>A) c.299+47G>A c.285+47G>A c.157+47G>A (n.157+47G>A) c.291+47G>A c.256+47G>A (n.256+47G>A) c.36+47G>A c.249+47G>A | gnomAD v4 |
2 | g.32064293G= | CA1242461872 | SPAST | c.415+47G= (n.415+47G=) c.299+47G= c.285+47G= c.157+47G= (n.157+47G=) c.291+47G= c.256+47G= (n.256+47G=) c.36+47G= c.249+47G= | |
2 | g.32064293G>T | CA1028990193 | SPAST | c.415+47G>T (n.415+47G>T) c.299+47G>T c.285+47G>T c.157+47G>T (n.157+47G>T) c.291+47G>T c.256+47G>T (n.256+47G>T) c.36+47G>T c.249+47G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064293_32064294insCGGGAAAGAGGGGG | CA2658520144 | SPAST | c.415+47_415+48insCGGGAAAGAGGGGG (n.415+47_415+48insCGGGAAAGAGGGGG) c.299+47_299+48insCGGGAAAGAGGGGG c.285+47_285+48insCGGGAAAGAGGGGG c.157+47_157+48insCGGGAAAGAGGGGG (n.157+47_157+48insCGGGAAAGAGGGGG) c.291+47_291+48insCGGGAAAGAGGGGG c.256+47_256+48insCGGGAAAGAGGGGG (n.256+47_256+48insCGGGAAAGAGGGGG) c.36+47_36+48insCGGGAAAGAGGGGG c.249+47_249+48insCGGGAAAGAGGGGG | gnomAD v4 |
2 | g.32064293_32064294insCGGGGAAGAGGGGG | CA2658520142 | SPAST | c.415+47_415+48insCGGGGAAGAGGGGG (n.415+47_415+48insCGGGGAAGAGGGGG) c.299+47_299+48insCGGGGAAGAGGGGG c.285+47_285+48insCGGGGAAGAGGGGG c.157+47_157+48insCGGGGAAGAGGGGG (n.157+47_157+48insCGGGGAAGAGGGGG) c.291+47_291+48insCGGGGAAGAGGGGG c.256+47_256+48insCGGGGAAGAGGGGG (n.256+47_256+48insCGGGGAAGAGGGGG) c.36+47_36+48insCGGGGAAGAGGGGG c.249+47_249+48insCGGGGAAGAGGGGG | gnomAD v4 |
2 | g.32064294_32064295insGGG | CA2832539467 | SPAST | c.415+48_415+49insGGG (n.415+48_415+49insGGG) c.299+48_299+49insGGG c.285+48_285+49insGGG c.157+48_157+49insGGG (n.157+48_157+49insGGG) c.291+48_291+49insGGG c.256+48_256+49insGGG (n.256+48_256+49insGGG) c.36+48_36+49insGGG c.249+48_249+49insGGG | |
2 | g.32064294_32064295insGGGG | CA2749388915 | SPAST | c.415+48_415+49insGGGG (n.415+48_415+49insGGGG) c.299+48_299+49insGGGG c.285+48_285+49insGGGG c.157+48_157+49insGGGG (n.157+48_157+49insGGGG) c.291+48_291+49insGGGG c.256+48_256+49insGGGG (n.256+48_256+49insGGGG) c.36+48_36+49insGGGG c.249+48_249+49insGGGG | |
2 | g.32064294_32064295insGAAAGAGGGGGG | CA2658520143 | SPAST | c.415+48_415+49insGAAAGAGGGGGG (n.415+48_415+49insGAAAGAGGGGGG) c.299+48_299+49insGAAAGAGGGGGG c.285+48_285+49insGAAAGAGGGGGG c.157+48_157+49insGAAAGAGGGGGG (n.157+48_157+49insGAAAGAGGGGGG) c.291+48_291+49insGAAAGAGGGGGG c.256+48_256+49insGAAAGAGGGGGG (n.256+48_256+49insGAAAGAGGGGGG) c.36+48_36+49insGAAAGAGGGGGG c.249+48_249+49insGAAAGAGGGGGG | gnomAD v4 |
2 | g.32064294_32064295insGGAAGAGGGGGG | CA2658520136 | SPAST | c.415+48_415+49insGGAAGAGGGGGG (n.415+48_415+49insGGAAGAGGGGGG) c.299+48_299+49insGGAAGAGGGGGG c.285+48_285+49insGGAAGAGGGGGG c.157+48_157+49insGGAAGAGGGGGG (n.157+48_157+49insGGAAGAGGGGGG) c.291+48_291+49insGGAAGAGGGGGG c.256+48_256+49insGGAAGAGGGGGG (n.256+48_256+49insGGAAGAGGGGGG) c.36+48_36+49insGGAAGAGGGGGG c.249+48_249+49insGGAAGAGGGGGG | gnomAD v4 |
2 | g.32064294_32064295insGGGAAAGAGGGGGG | CA2658520141 | SPAST | c.415+48_415+49insGGGAAAGAGGGGGG (n.415+48_415+49insGGGAAAGAGGGGGG) c.299+48_299+49insGGGAAAGAGGGGGG c.285+48_285+49insGGGAAAGAGGGGGG c.157+48_157+49insGGGAAAGAGGGGGG (n.157+48_157+49insGGGAAAGAGGGGGG) c.291+48_291+49insGGGAAAGAGGGGGG c.256+48_256+49insGGGAAAGAGGGGGG (n.256+48_256+49insGGGAAAGAGGGGGG) c.36+48_36+49insGGGAAAGAGGGGGG c.249+48_249+49insGGGAAAGAGGGGGG | gnomAD v4 |
2 | g.32064294del | CA531769502 | SPAST | c.415+48del (n.415+48del) c.299+48del c.285+48del c.157+48del (n.157+48del) c.291+48del c.256+48del (n.256+48del) c.36+48del c.249+48del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064293_32064299del | CA2658520135 | SPAST | c.415+47_415+53del (n.415+47_415+53del) c.299+47_299+53del c.285+47_285+53del c.157+47_157+53del (n.157+47_157+53del) c.291+47_291+53del c.256+47_256+53del (n.256+47_256+53del) c.36+47_36+53del c.249+47_249+53del | gnomAD v4 |
2 | g.32064293_32064300del | CA2658520134 | SPAST | c.415+47_415+54del (n.415+47_415+54del) c.299+47_299+54del c.285+47_285+54del c.157+47_157+54del (n.157+47_157+54del) c.291+47_291+54del c.256+47_256+54del (n.256+47_256+54del) c.36+47_36+54del c.249+47_249+54del | gnomAD v4 |
2 | g.32064293_32064302del | CA2658520133 | SPAST | c.415+47_415+56del (n.415+47_415+56del) c.299+47_299+56del c.285+47_285+56del c.157+47_157+56del (n.157+47_157+56del) c.291+47_291+56del c.256+47_256+56del (n.256+47_256+56del) c.36+47_36+56del c.249+47_249+56del | gnomAD v4 |
2 | g.32064293_32064309del | CA2658520132 | SPAST | c.415+47_415+63del (n.415+47_415+63del) c.299+47_299+63del c.285+47_285+63del c.157+47_157+63del (n.157+47_157+63del) c.291+47_291+63del c.256+47_256+63del (n.256+47_256+63del) c.36+47_36+63del c.249+47_249+63del | gnomAD v4 |
2 | g.32064294G>A | CA2658520148 | SPAST | c.415+48G>A (n.415+48G>A) c.299+48G>A c.285+48G>A c.157+48G>A (n.157+48G>A) c.291+48G>A c.256+48G>A (n.256+48G>A) c.36+48G>A c.249+48G>A | gnomAD v4 |
2 | g.32064294G>T | CA2576929959 | SPAST | c.415+48G>T (n.415+48G>T) c.299+48G>T c.285+48G>T c.157+48G>T (n.157+48G>T) c.291+48G>T c.256+48G>T (n.256+48G>T) c.36+48G>T c.249+48G>T | gnomAD v4 |
2 | g.32064295_32064296del | CA2658520145 | SPAST | c.415+49_415+50del (n.415+49_415+50del) c.299+49_299+50del c.285+49_285+50del c.157+49_157+50del (n.157+49_157+50del) c.291+49_291+50del c.256+49_256+50del (n.256+49_256+50del) c.36+49_36+50del c.249+49_249+50del | gnomAD v4 |
2 | g.32064295_32064305del | CA2658520146 | SPAST | c.415+49_415+59del (n.415+49_415+59del) c.299+49_299+59del c.285+49_285+59del c.157+49_157+59del (n.157+49_157+59del) c.291+49_291+59del c.256+49_256+59del (n.256+49_256+59del) c.36+49_36+59del c.249+49_249+59del | gnomAD v4 |
2 | g.32064295_32064311del | CA2658520147 | SPAST | c.415+49_415+65del (n.415+49_415+65del) c.299+49_299+65del c.285+49_285+65del c.157+49_157+65del (n.157+49_157+65del) c.291+49_291+65del c.256+49_256+65del (n.256+49_256+65del) c.36+49_36+65del c.249+49_249+65del | gnomAD v4 |
2 | g.32064295del | CA2658520149 | SPAST | c.415+49del (n.415+49del) c.299+49del c.285+49del c.157+49del (n.157+49del) c.291+49del c.256+49del (n.256+49del) c.36+49del c.249+49del | gnomAD v4 |
2 | g.32064295T>A | CA2576929960 | SPAST | c.415+49T>A (n.415+49T>A) c.299+49T>A c.285+49T>A c.157+49T>A (n.157+49T>A) c.291+49T>A c.256+49T>A (n.256+49T>A) c.36+49T>A c.249+49T>A | gnomAD v4 |
2 | g.32064295T>C | CA2576929961 | SPAST | c.415+49T>C (n.415+49T>C) c.299+49T>C c.285+49T>C c.157+49T>C (n.157+49T>C) c.291+49T>C c.256+49T>C (n.256+49T>C) c.36+49T>C c.249+49T>C | |
2 | g.32064295T>G | CA531769503 | SPAST | c.415+49T>G (n.415+49T>G) c.299+49T>G c.285+49T>G c.157+49T>G (n.157+49T>G) c.291+49T>G c.256+49T>G (n.256+49T>G) c.36+49T>G c.249+49T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064295T= | CA1242461873 | SPAST | c.415+49T= (n.415+49T=) c.299+49T= c.285+49T= c.157+49T= (n.157+49T=) c.291+49T= c.256+49T= (n.256+49T=) c.36+49T= c.249+49T= | |
2 | g.32064295_32064296insATCTGGGGGGG | CA2658520158 | SPAST | c.415+49_415+50insATCTGGGGGGG (n.415+49_415+50insATCTGGGGGGG) c.299+49_299+50insATCTGGGGGGG c.285+49_285+50insATCTGGGGGGG c.157+49_157+50insATCTGGGGGGG (n.157+49_157+50insATCTGGGGGGG) c.291+49_291+50insATCTGGGGGGG c.256+49_256+50insATCTGGGGGGG (n.256+49_256+50insATCTGGGGGGG) c.36+49_36+50insATCTGGGGGGG c.249+49_249+50insATCTGGGGGGG | gnomAD v4 |
2 | g.32064295_32064296insTACTATGGGGGG | CA2658520155 | SPAST | c.415+49_415+50insTACTATGGGGGG (n.415+49_415+50insTACTATGGGGGG) c.299+49_299+50insTACTATGGGGGG c.285+49_285+50insTACTATGGGGGG c.157+49_157+50insTACTATGGGGGG (n.157+49_157+50insTACTATGGGGGG) c.291+49_291+50insTACTATGGGGGG c.256+49_256+50insTACTATGGGGGG (n.256+49_256+50insTACTATGGGGGG) c.36+49_36+50insTACTATGGGGGG c.249+49_249+50insTACTATGGGGGG | gnomAD v4 |
2 | g.32064295_32064296insTCACATGGGGGG | CA2658520154 | SPAST | c.415+49_415+50insTCACATGGGGGG (n.415+49_415+50insTCACATGGGGGG) c.299+49_299+50insTCACATGGGGGG c.285+49_285+50insTCACATGGGGGG c.157+49_157+50insTCACATGGGGGG (n.157+49_157+50insTCACATGGGGGG) c.291+49_291+50insTCACATGGGGGG c.256+49_256+50insTCACATGGGGGG (n.256+49_256+50insTCACATGGGGGG) c.36+49_36+50insTCACATGGGGGG c.249+49_249+50insTCACATGGGGGG | gnomAD v4 |
2 | g.32064296G>A | CA2576929962 | SPAST | c.415+50G>A (n.415+50G>A) c.299+50G>A c.285+50G>A c.157+50G>A (n.157+50G>A) c.291+50G>A c.256+50G>A (n.256+50G>A) c.36+50G>A c.249+50G>A | gnomAD v4 |
2 | g.32064296G>C | CA2658520150 | SPAST | c.415+50G>C (n.415+50G>C) c.299+50G>C c.285+50G>C c.157+50G>C (n.157+50G>C) c.291+50G>C c.256+50G>C (n.256+50G>C) c.36+50G>C c.249+50G>C | gnomAD v4 |
2 | g.32064296G= | CA1242461874 | SPAST | c.415+50G= (n.415+50G=) c.299+50G= c.285+50G= c.157+50G= (n.157+50G=) c.291+50G= c.256+50G= (n.256+50G=) c.36+50G= c.249+50G= | |
2 | g.32064296G>T | CA1242461875 | SPAST | c.415+50G>T (n.415+50G>T) c.299+50G>T c.285+50G>T c.157+50G>T (n.157+50G>T) c.291+50G>T c.256+50G>T (n.256+50G>T) c.36+50G>T c.249+50G>T | dbSNP gnomAD v4 |
2 | g.32064296_32064299del | CA2658520152 | SPAST | c.415+50_415+53del (n.415+50_415+53del) c.299+50_299+53del c.285+50_285+53del c.157+50_157+53del (n.157+50_157+53del) c.291+50_291+53del c.256+50_256+53del (n.256+50_256+53del) c.36+50_36+53del c.249+50_249+53del | gnomAD v4 |
2 | g.32064299_32064300insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG | CA2658520157 | SPAST | c.415+53_415+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG (n.415+53_415+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG) c.299+53_299+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.285+53_285+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.157+53_157+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG (n.157+53_157+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG) c.291+53_291+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.256+53_256+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG (n.256+53_256+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG) c.36+53_36+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG c.249+53_249+54insGGGGGGGGGGGGGGCGCGGGAAAAAGGGGGGGGGGG | gnomAD v4 |
2 | g.32064299_32064300insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG | CA2658520156 | SPAST | c.415+53_415+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG (n.415+53_415+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG) c.299+53_299+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.285+53_285+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.157+53_157+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG (n.157+53_157+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG) c.291+53_291+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.256+53_256+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG (n.256+53_256+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG) c.36+53_36+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG c.249+53_249+54insGGGGGGGGGGGGGGGGGGGGGCCCGGGGAAGAGGGGGGGGGGG | gnomAD v4 |
2 | g.32064299dup | CA531769504 | SPAST | c.415+53dup (n.415+53dup) c.299+53dup c.285+53dup c.157+53dup (n.157+53dup) c.291+53dup c.256+53dup (n.256+53dup) c.36+53dup c.249+53dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064299del | CA2658520159 | SPAST | c.415+53del (n.415+53del) c.299+53del c.285+53del c.157+53del (n.157+53del) c.291+53del c.256+53del (n.256+53del) c.36+53del c.249+53del | gnomAD v4 |
2 | g.32064298_32064299del | CA2658520153 | SPAST | c.415+52_415+53del (n.415+52_415+53del) c.299+52_299+53del c.285+52_285+53del c.157+52_157+53del (n.157+52_157+53del) c.291+52_291+53del c.256+52_256+53del (n.256+52_256+53del) c.36+52_36+53del c.249+52_249+53del | gnomAD v4 |
2 | g.32064299_32064313del | CA2658520151 | SPAST | c.415+53_415+67del (n.415+53_415+67del) c.299+53_299+67del c.285+53_285+67del c.157+53_157+67del (n.157+53_157+67del) c.291+53_291+67del c.256+53_256+67del (n.256+53_256+67del) c.36+53_36+67del c.249+53_249+67del | gnomAD v4 |
2 | g.32064297G>A | CA2658520161 | SPAST | c.415+51G>A (n.415+51G>A) c.299+51G>A c.285+51G>A c.157+51G>A (n.157+51G>A) c.291+51G>A c.256+51G>A (n.256+51G>A) c.36+51G>A c.249+51G>A | gnomAD v4 |
2 | g.32064297G>T | CA2658520160 | SPAST | c.415+51G>T (n.415+51G>T) c.299+51G>T c.285+51G>T c.157+51G>T (n.157+51G>T) c.291+51G>T c.256+51G>T (n.256+51G>T) c.36+51G>T c.249+51G>T | gnomAD v4 |
2 | g.32064297_32064300del | CA2658520163 | SPAST | c.415+51_415+54del (n.415+51_415+54del) c.299+51_299+54del c.285+51_285+54del c.157+51_157+54del (n.157+51_157+54del) c.291+51_291+54del c.256+51_256+54del (n.256+51_256+54del) c.36+51_36+54del c.249+51_249+54del | gnomAD v4 |
2 | g.32064300_32064307del | CA2658520162 | SPAST | c.415+54_415+61del (n.415+54_415+61del) c.299+54_299+61del c.285+54_285+61del c.157+54_157+61del (n.157+54_157+61del) c.291+54_291+61del c.256+54_256+61del (n.256+54_256+61del) c.36+54_36+61del c.249+54_249+61del | gnomAD v4 |
2 | g.32064298G>A | CA531769505 | SPAST | c.415+52G>A (n.415+52G>A) c.299+52G>A c.285+52G>A c.157+52G>A (n.157+52G>A) c.291+52G>A c.256+52G>A (n.256+52G>A) c.36+52G>A c.249+52G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064298G= | CA1242461876 | SPAST | c.415+52G= (n.415+52G=) c.299+52G= c.285+52G= c.157+52G= (n.157+52G=) c.291+52G= c.256+52G= (n.256+52G=) c.36+52G= c.249+52G= | |
2 | g.32064298G>T | CA2658520167 | SPAST | c.415+52G>T (n.415+52G>T) c.299+52G>T c.285+52G>T c.157+52G>T (n.157+52G>T) c.291+52G>T c.256+52G>T (n.256+52G>T) c.36+52G>T c.249+52G>T | gnomAD v4 |
2 | g.32064298_32064300del | CA2658520164 | SPAST | c.415+52_415+54del (n.415+52_415+54del) c.299+52_299+54del c.285+52_285+54del c.157+52_157+54del (n.157+52_157+54del) c.291+52_291+54del c.256+52_256+54del (n.256+52_256+54del) c.36+52_36+54del c.249+52_249+54del | gnomAD v4 |
2 | g.32064299_32064302del | CA2658520165 | SPAST | c.415+53_415+56del (n.415+53_415+56del) c.299+53_299+56del c.285+53_285+56del c.157+53_157+56del (n.157+53_157+56del) c.291+53_291+56del c.256+53_256+56del (n.256+53_256+56del) c.36+53_36+56del c.249+53_249+56del | gnomAD v4 |
2 | g.32064298_32064303del | CA2658520166 | SPAST | c.415+52_415+57del (n.415+52_415+57del) c.299+52_299+57del c.285+52_285+57del c.157+52_157+57del (n.157+52_157+57del) c.291+52_291+57del c.256+52_256+57del (n.256+52_256+57del) c.36+52_36+57del c.249+52_249+57del | gnomAD v4 |
2 | g.32064298_32064299insTT | CA2658520174 | SPAST | c.415+52_415+53insTT (n.415+52_415+53insTT) c.299+52_299+53insTT c.285+52_285+53insTT c.157+52_157+53insTT (n.157+52_157+53insTT) c.291+52_291+53insTT c.256+52_256+53insTT (n.256+52_256+53insTT) c.36+52_36+53insTT c.249+52_249+53insTT | gnomAD v4 |
2 | g.32064299G>A | CA2658520171 | SPAST | c.415+53G>A (n.415+53G>A) c.299+53G>A c.285+53G>A c.157+53G>A (n.157+53G>A) c.291+53G>A c.256+53G>A (n.256+53G>A) c.36+53G>A c.249+53G>A | gnomAD v4 |
2 | g.32064299G>C | CA2658520170 | SPAST | c.415+53G>C (n.415+53G>C) c.299+53G>C c.285+53G>C c.157+53G>C (n.157+53G>C) c.291+53G>C c.256+53G>C (n.256+53G>C) c.36+53G>C c.249+53G>C | gnomAD v4 |
2 | g.32064299G>T | CA2658520169 | SPAST | c.415+53G>T (n.415+53G>T) c.299+53G>T c.285+53G>T c.157+53G>T (n.157+53G>T) c.291+53G>T c.256+53G>T (n.256+53G>T) c.36+53G>T c.249+53G>T | gnomAD v4 |
2 | g.32064299_32064300del | CA2658520173 | SPAST | c.415+53_415+54del (n.415+53_415+54del) c.299+53_299+54del c.285+53_285+54del c.157+53_157+54del (n.157+53_157+54del) c.291+53_291+54del c.256+53_256+54del (n.256+53_256+54del) c.36+53_36+54del c.249+53_249+54del | gnomAD v4 |
2 | g.32064300_32064302del | CA2658520168 | SPAST | c.415+54_415+56del (n.415+54_415+56del) c.299+54_299+56del c.285+54_285+56del c.157+54_157+56del (n.157+54_157+56del) c.291+54_291+56del c.256+54_256+56del (n.256+54_256+56del) c.36+54_36+56del c.249+54_249+56del | gnomAD v4 |
2 | g.32064300_32064305del | CA2658520172 | SPAST | c.415+54_415+59del (n.415+54_415+59del) c.299+54_299+59del c.285+54_285+59del c.157+54_157+59del (n.157+54_157+59del) c.291+54_291+59del c.256+54_256+59del (n.256+54_256+59del) c.36+54_36+59del c.249+54_249+59del | gnomAD v4 |
2 | g.32064299_32064300insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT | CA2658520175 | SPAST | c.415+53_415+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT (n.415+53_415+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT) c.299+53_299+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.285+53_285+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.157+53_157+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT (n.157+53_157+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT) c.291+53_291+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.256+53_256+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT (n.256+53_256+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT) c.36+53_36+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT c.249+53_249+54insAAGATATTCTGGGGGCTTTGGTACACCTAGAGTTT | gnomAD v4 |
2 | g.32064300del | CA2658520177 | SPAST | c.415+54del (n.415+54del) c.299+54del c.285+54del c.157+54del (n.157+54del) c.291+54del c.256+54del (n.256+54del) c.36+54del c.249+54del | gnomAD v4 |
2 | g.32064300T>A | CA2658520181 | SPAST | c.415+54T>A (n.415+54T>A) c.299+54T>A c.285+54T>A c.157+54T>A (n.157+54T>A) c.291+54T>A c.256+54T>A (n.256+54T>A) c.36+54T>A c.249+54T>A | gnomAD v4 |
2 | g.32064300T>C | CA1028990196 | SPAST | c.415+54T>C (n.415+54T>C) c.299+54T>C c.285+54T>C c.157+54T>C (n.157+54T>C) c.291+54T>C c.256+54T>C (n.256+54T>C) c.36+54T>C c.249+54T>C | gnomAD v3 gnomAD v4 |
2 | g.32064300T>G | CA2576929963 | SPAST | c.415+54T>G (n.415+54T>G) c.299+54T>G c.285+54T>G c.157+54T>G (n.157+54T>G) c.291+54T>G c.256+54T>G (n.256+54T>G) c.36+54T>G c.249+54T>G | gnomAD v4 |
2 | g.32064300dup | CA2658520176 | SPAST | c.415+54dup (n.415+54dup) c.299+54dup c.285+54dup c.157+54dup (n.157+54dup) c.291+54dup c.256+54dup (n.256+54dup) c.36+54dup c.249+54dup | gnomAD v4 |
2 | g.32064300_32064301del | CA2658520178 | SPAST | c.415+54_415+55del (n.415+54_415+55del) c.299+54_299+55del c.285+54_285+55del c.157+54_157+55del (n.157+54_157+55del) c.291+54_291+55del c.256+54_256+55del (n.256+54_256+55del) c.36+54_36+55del c.249+54_249+55del | gnomAD v4 |
2 | g.32064300_32064303del | CA2658520179 | SPAST | c.415+54_415+57del (n.415+54_415+57del) c.299+54_299+57del c.285+54_285+57del c.157+54_157+57del (n.157+54_157+57del) c.291+54_291+57del c.256+54_256+57del (n.256+54_256+57del) c.36+54_36+57del c.249+54_249+57del | gnomAD v4 |
2 | g.32064300_32064304del | CA2658520180 | SPAST | c.415+54_415+58del (n.415+54_415+58del) c.299+54_299+58del c.285+54_285+58del c.157+54_157+58del (n.157+54_157+58del) c.291+54_291+58del c.256+54_256+58del (n.256+54_256+58del) c.36+54_36+58del c.249+54_249+58del | gnomAD v4 |
2 | g.32064300_32064301insG | CA2658520184 | SPAST | c.415+54_415+55insG (n.415+54_415+55insG) c.299+54_299+55insG c.285+54_285+55insG c.157+54_157+55insG (n.157+54_157+55insG) c.291+54_291+55insG c.256+54_256+55insG (n.256+54_256+55insG) c.36+54_36+55insG c.249+54_249+55insG | gnomAD v4 |
2 | g.32064300_32064301insGGGGGGGGGGG | CA2749388916 | SPAST | c.415+54_415+55insGGGGGGGGGGG (n.415+54_415+55insGGGGGGGGGGG) c.299+54_299+55insGGGGGGGGGGG c.285+54_285+55insGGGGGGGGGGG c.157+54_157+55insGGGGGGGGGGG (n.157+54_157+55insGGGGGGGGGGG) c.291+54_291+55insGGGGGGGGGGG c.256+54_256+55insGGGGGGGGGGG (n.256+54_256+55insGGGGGGGGGGG) c.36+54_36+55insGGGGGGGGGGG c.249+54_249+55insGGGGGGGGGGG | |
2 | g.32064301C>A | CA1242461878 | SPAST | c.415+55C>A (n.415+55C>A) c.299+55C>A c.285+55C>A c.157+55C>A (n.157+55C>A) c.291+55C>A c.256+55C>A (n.256+55C>A) c.36+55C>A c.249+55C>A | dbSNP gnomAD v4 |
2 | g.32064301C= | CA1242461877 | SPAST | c.415+55C= (n.415+55C=) c.299+55C= c.285+55C= c.157+55C= (n.157+55C=) c.291+55C= c.256+55C= (n.256+55C=) c.36+55C= c.249+55C= | |
2 | g.32064301C>G | CA2658520182 | SPAST | c.415+55C>G (n.415+55C>G) c.299+55C>G c.285+55C>G c.157+55C>G (n.157+55C>G) c.291+55C>G c.256+55C>G (n.256+55C>G) c.36+55C>G c.249+55C>G | gnomAD v4 |
2 | g.32064301C>T | CA531769506 | SPAST | c.415+55C>T (n.415+55C>T) c.299+55C>T c.285+55C>T c.157+55C>T (n.157+55C>T) c.291+55C>T c.256+55C>T (n.256+55C>T) c.36+55C>T c.249+55C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.32064301dup | CA2658520186 | SPAST | c.415+55dup (n.415+55dup) c.299+55dup c.285+55dup c.157+55dup (n.157+55dup) c.291+55dup c.256+55dup (n.256+55dup) c.36+55dup c.249+55dup | gnomAD v4 |
2 | g.32064301_32064309del | CA2658520185 | SPAST | c.415+55_415+63del (n.415+55_415+63del) c.299+55_299+63del c.285+55_285+63del c.157+55_157+63del (n.157+55_157+63del) c.291+55_291+63del c.256+55_256+63del (n.256+55_256+63del) c.36+55_36+63del c.249+55_249+63del | gnomAD v4 |
2 | g.32064301_32064310del | CA2658520183 | SPAST | c.415+55_415+64del (n.415+55_415+64del) c.299+55_299+64del c.285+55_285+64del c.157+55_157+64del (n.157+55_157+64del) c.291+55_291+64del c.256+55_256+64del (n.256+55_256+64del) c.36+55_36+64del c.249+55_249+64del | gnomAD v4 |
2 | g.32064302del | CA2658520187 | SPAST | c.415+56del (n.415+56del) c.299+56del c.285+56del c.157+56del (n.157+56del) c.291+56del c.256+56del (n.256+56del) c.36+56del c.249+56del | gnomAD v4 |
2 | g.32064302G>A | CA2576929964 | SPAST | c.415+56G>A (n.415+56G>A) c.299+56G>A c.285+56G>A c.157+56G>A (n.157+56G>A) c.291+56G>A c.256+56G>A (n.256+56G>A) c.36+56G>A c.249+56G>A | gnomAD v4 |
2 | g.32064302G>C | CA2658520188 | SPAST | c.415+56G>C (n.415+56G>C) c.299+56G>C c.285+56G>C c.157+56G>C (n.157+56G>C) c.291+56G>C c.256+56G>C (n.256+56G>C) c.36+56G>C c.249+56G>C | gnomAD v4 |
2 | g.32064302G= | CA1242461879 | SPAST | c.415+56G= (n.415+56G=) c.299+56G= c.285+56G= c.157+56G= (n.157+56G=) c.291+56G= c.256+56G= (n.256+56G=) c.36+56G= c.249+56G= | |
2 | g.32064302G>T | CA1028990197 | SPAST | c.415+56G>T (n.415+56G>T) c.299+56G>T c.285+56G>T c.157+56G>T (n.157+56G>T) c.291+56G>T c.256+56G>T (n.256+56G>T) c.36+56G>T c.249+56G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064303_32064311del | CA2658520189 | SPAST | c.415+57_415+65del (n.415+57_415+65del) c.299+57_299+65del c.285+57_285+65del c.157+57_157+65del (n.157+57_157+65del) c.291+57_291+65del c.256+57_256+65del (n.256+57_256+65del) c.36+57_36+65del c.249+57_249+65del | gnomAD v4 |
2 | g.32064303C>G | CA2658520190 | SPAST | c.415+57C>G (n.415+57C>G) c.299+57C>G c.285+57C>G c.157+57C>G (n.157+57C>G) c.291+57C>G c.256+57C>G (n.256+57C>G) c.36+57C>G c.249+57C>G | gnomAD v4 |
2 | g.32064303_32064304del | CA2576929965 | SPAST | c.415+57_415+58del (n.415+57_415+58del) c.299+57_299+58del c.285+57_285+58del c.157+57_157+58del (n.157+57_157+58del) c.291+57_291+58del c.256+57_256+58del (n.256+57_256+58del) c.36+57_36+58del c.249+57_249+58del | gnomAD v4 |
2 | g.32064304C>A | CA2658520191 | SPAST | c.415+58C>A (n.415+58C>A) c.299+58C>A c.285+58C>A c.157+58C>A (n.157+58C>A) c.291+58C>A c.256+58C>A (n.256+58C>A) c.36+58C>A c.249+58C>A | gnomAD v4 |
2 | g.32064304C= | CA1242461881 | SPAST | c.415+58C= (n.415+58C=) c.299+58C= c.285+58C= c.157+58C= (n.157+58C=) c.291+58C= c.256+58C= (n.256+58C=) c.36+58C= c.249+58C= | |
2 | g.32064304C>G | CA1028990198 | SPAST | c.415+58C>G (n.415+58C>G) c.299+58C>G c.285+58C>G c.157+58C>G (n.157+58C>G) c.291+58C>G c.256+58C>G (n.256+58C>G) c.36+58C>G c.249+58C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064304C>T | CA1242461880 | SPAST | c.415+58C>T (n.415+58C>T) c.299+58C>T c.285+58C>T c.157+58C>T (n.157+58C>T) c.291+58C>T c.256+58C>T (n.256+58C>T) c.36+58C>T c.249+58C>T | dbSNP gnomAD v4 |
2 | g.32064304_32064305insCG | CA2658520197 | SPAST | c.415+58_415+59insCG (n.415+58_415+59insCG) c.299+58_299+59insCG c.285+58_285+59insCG c.157+58_157+59insCG (n.157+58_157+59insCG) c.291+58_291+59insCG c.256+58_256+59insCG (n.256+58_256+59insCG) c.36+58_36+59insCG c.249+58_249+59insCG | gnomAD v4 |
2 | g.32064304_32064305insCCG | CA2658520198 | SPAST | c.415+58_415+59insCCG (n.415+58_415+59insCCG) c.299+58_299+59insCCG c.285+58_285+59insCCG c.157+58_157+59insCCG (n.157+58_157+59insCCG) c.291+58_291+59insCCG c.256+58_256+59insCCG (n.256+58_256+59insCCG) c.36+58_36+59insCCG c.249+58_249+59insCCG | gnomAD v4 |
2 | g.32064305G>A | CA2658520194 | SPAST | c.415+59G>A (n.415+59G>A) c.299+59G>A c.285+59G>A c.157+59G>A (n.157+59G>A) c.291+59G>A c.256+59G>A (n.256+59G>A) c.36+59G>A c.249+59G>A | gnomAD v4 |
2 | g.32064305G>C | CA2658520193 | SPAST | c.415+59G>C (n.415+59G>C) c.299+59G>C c.285+59G>C c.157+59G>C (n.157+59G>C) c.291+59G>C c.256+59G>C (n.256+59G>C) c.36+59G>C c.249+59G>C | gnomAD v4 |
2 | g.32064305G= | CA1242461882 | SPAST | c.415+59G= (n.415+59G=) c.299+59G= c.285+59G= c.157+59G= (n.157+59G=) c.291+59G= c.256+59G= (n.256+59G=) c.36+59G= c.249+59G= | |
2 | g.32064305G>T | CA45201417 | SPAST | c.415+59G>T (n.415+59G>T) c.299+59G>T c.285+59G>T c.157+59G>T (n.157+59G>T) c.291+59G>T c.256+59G>T (n.256+59G>T) c.36+59G>T c.249+59G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064305_32064306insCGG | CA2658520196 | SPAST | c.415+59_415+60insCGG (n.415+59_415+60insCGG) c.299+59_299+60insCGG c.285+59_285+60insCGG c.157+59_157+60insCGG (n.157+59_157+60insCGG) c.291+59_291+60insCGG c.256+59_256+60insCGG (n.256+59_256+60insCGG) c.36+59_36+60insCGG c.249+59_249+60insCGG | gnomAD v4 |
2 | g.32064309_32064310insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG | CA2699025883 | SPAST | c.415+63_415+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG (n.415+63_415+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG) c.299+63_299+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.285+63_285+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.157+63_157+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG (n.157+63_157+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG) c.291+63_291+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.256+63_256+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG (n.256+63_256+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG) c.36+63_36+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG c.249+63_249+64insCGGGCAACAGGGGGGGGGGGTCGCGGGGGG | dbSNP |
2 | g.32064309dup | CA2576929966 | SPAST | c.415+63dup (n.415+63dup) c.299+63dup c.285+63dup c.157+63dup (n.157+63dup) c.291+63dup c.256+63dup (n.256+63dup) c.36+63dup c.249+63dup | gnomAD v4 |
2 | g.32064307_32064309dup | CA2658520195 | SPAST | c.415+61_415+63dup (n.415+61_415+63dup) c.299+61_299+63dup c.285+61_285+63dup c.157+61_157+63dup (n.157+61_157+63dup) c.291+61_291+63dup c.256+61_256+63dup (n.256+61_256+63dup) c.36+61_36+63dup c.249+61_249+63dup | gnomAD v4 |
2 | g.32064309del | CA2509534122 | SPAST | c.415+63del (n.415+63del) c.299+63del c.285+63del c.157+63del (n.157+63del) c.291+63del c.256+63del (n.256+63del) c.36+63del c.249+63del | gnomAD v4 |
2 | g.32064308_32064313del | CA2658520192 | SPAST | c.415+62_415+67del (n.415+62_415+67del) c.299+62_299+67del c.285+62_285+67del c.157+62_157+67del (n.157+62_157+67del) c.291+62_291+67del c.256+62_256+67del (n.256+62_256+67del) c.36+62_36+67del c.249+62_249+67del | gnomAD v4 |
2 | g.32064305_32064306insC | CA2658520199 | SPAST | c.415+59_415+60insC (n.415+59_415+60insC) c.299+59_299+60insC c.285+59_285+60insC c.157+59_157+60insC (n.157+59_157+60insC) c.291+59_291+60insC c.256+59_256+60insC (n.256+59_256+60insC) c.36+59_36+60insC c.249+59_249+60insC | gnomAD v4 |
2 | g.32064305_32064306insT | CA1242461883 | SPAST | c.415+59_415+60insT (n.415+59_415+60insT) c.299+59_299+60insT c.285+59_285+60insT c.157+59_157+60insT (n.157+59_157+60insT) c.291+59_291+60insT c.256+59_256+60insT (n.256+59_256+60insT) c.36+59_36+60insT c.249+59_249+60insT | dbSNP |
2 | g.32064306G>A | CA1242461885 | SPAST | c.415+60G>A (n.415+60G>A) c.299+60G>A c.285+60G>A c.157+60G>A (n.157+60G>A) c.291+60G>A c.256+60G>A (n.256+60G>A) c.36+60G>A c.249+60G>A | dbSNP gnomAD v4 |
2 | g.32064306G>C | CA767739323 | SPAST | c.415+60G>C (n.415+60G>C) c.299+60G>C c.285+60G>C c.157+60G>C (n.157+60G>C) c.291+60G>C c.256+60G>C (n.256+60G>C) c.36+60G>C c.249+60G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064306G= | CA1242461884 | SPAST | c.415+60G= (n.415+60G=) c.299+60G= c.285+60G= c.157+60G= (n.157+60G=) c.291+60G= c.256+60G= (n.256+60G=) c.36+60G= c.249+60G= | |
2 | g.32064306G>T | CA2658520200 | SPAST | c.415+60G>T (n.415+60G>T) c.299+60G>T c.285+60G>T c.157+60G>T (n.157+60G>T) c.291+60G>T c.256+60G>T (n.256+60G>T) c.36+60G>T c.249+60G>T | gnomAD v4 |
2 | g.32064307G>A | CA531769507 | SPAST | c.415+61G>A (n.415+61G>A) c.299+61G>A c.285+61G>A c.157+61G>A (n.157+61G>A) c.291+61G>A c.256+61G>A (n.256+61G>A) c.36+61G>A c.249+61G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064307G= | CA1242461886 | SPAST | c.415+61G= (n.415+61G=) c.299+61G= c.285+61G= c.157+61G= (n.157+61G=) c.291+61G= c.256+61G= (n.256+61G=) c.36+61G= c.249+61G= | |
2 | g.32064307G>T | CA1242461887 | SPAST | c.415+61G>T (n.415+61G>T) c.299+61G>T c.285+61G>T c.157+61G>T (n.157+61G>T) c.291+61G>T c.256+61G>T (n.256+61G>T) c.36+61G>T c.249+61G>T | dbSNP gnomAD v4 |
2 | g.32064308G>A | CA2576929967 | SPAST | c.415+62G>A (n.415+62G>A) c.299+62G>A c.285+62G>A c.157+62G>A (n.157+62G>A) c.291+62G>A c.256+62G>A (n.256+62G>A) c.36+62G>A c.249+62G>A | gnomAD v4 |
2 | g.32064308G>T | CA2576929968 | SPAST | c.415+62G>T (n.415+62G>T) c.299+62G>T c.285+62G>T c.157+62G>T (n.157+62G>T) c.291+62G>T c.256+62G>T (n.256+62G>T) c.36+62G>T c.249+62G>T | gnomAD v4 |
2 | g.32064309G>A | CA2511713759 | SPAST | c.415+63G>A (n.415+63G>A) c.299+63G>A c.285+63G>A c.157+63G>A (n.157+63G>A) c.291+63G>A c.256+63G>A (n.256+63G>A) c.36+63G>A c.249+63G>A | gnomAD v4 |
2 | g.32064309G>C | CA2658520202 | SPAST | c.415+63G>C (n.415+63G>C) c.299+63G>C c.285+63G>C c.157+63G>C (n.157+63G>C) c.291+63G>C c.256+63G>C (n.256+63G>C) c.36+63G>C c.249+63G>C | gnomAD v4 |
2 | g.32064309G>T | CA2658520201 | SPAST | c.415+63G>T (n.415+63G>T) c.299+63G>T c.285+63G>T c.157+63G>T (n.157+63G>T) c.291+63G>T c.256+63G>T (n.256+63G>T) c.36+63G>T c.249+63G>T | gnomAD v4 |
2 | g.32064309_32064310insC | CA2658520206 | SPAST | c.415+63_415+64insC (n.415+63_415+64insC) c.299+63_299+64insC c.285+63_285+64insC c.157+63_157+64insC (n.157+63_157+64insC) c.291+63_291+64insC c.256+63_256+64insC (n.256+63_256+64insC) c.36+63_36+64insC c.249+63_249+64insC | gnomAD v4 |
2 | g.32064309_32064310insT | CA2658520204 | SPAST | c.415+63_415+64insT (n.415+63_415+64insT) c.299+63_299+64insT c.285+63_285+64insT c.157+63_157+64insT (n.157+63_157+64insT) c.291+63_291+64insT c.256+63_256+64insT (n.256+63_256+64insT) c.36+63_36+64insT c.249+63_249+64insT | gnomAD v4 |
2 | g.32064309_32064310insGC | CA2658520203 | SPAST | c.415+63_415+64insGC (n.415+63_415+64insGC) c.299+63_299+64insGC c.285+63_285+64insGC c.157+63_157+64insGC (n.157+63_157+64insGC) c.291+63_291+64insGC c.256+63_256+64insGC (n.256+63_256+64insGC) c.36+63_36+64insGC c.249+63_249+64insGC | gnomAD v4 |
2 | g.32064310del | CA2658520205 | SPAST | c.415+64del (n.415+64del) c.299+64del c.285+64del c.157+64del (n.157+64del) c.291+64del c.256+64del (n.256+64del) c.36+64del c.249+64del | gnomAD v4 |
2 | g.32064310A>C | CA2576929969 | SPAST | c.415+64A>C (n.415+64A>C) c.299+64A>C c.285+64A>C c.157+64A>C (n.157+64A>C) c.291+64A>C c.256+64A>C (n.256+64A>C) c.36+64A>C c.249+64A>C | dbSNP gnomAD v4 |
2 | g.32064310A>G | CA2576929970 | SPAST | c.415+64A>G (n.415+64A>G) c.299+64A>G c.285+64A>G c.157+64A>G (n.157+64A>G) c.291+64A>G c.256+64A>G (n.256+64A>G) c.36+64A>G c.249+64A>G | gnomAD v4 |
2 | g.32064310A>T | CA2576929971 | SPAST | c.415+64A>T (n.415+64A>T) c.299+64A>T c.285+64A>T c.157+64A>T (n.157+64A>T) c.291+64A>T c.256+64A>T (n.256+64A>T) c.36+64A>T c.249+64A>T | gnomAD v4 |
2 | g.32064311G>A | CA531769508 | SPAST | c.415+65G>A (n.415+65G>A) c.299+65G>A c.285+65G>A c.157+65G>A (n.157+65G>A) c.291+65G>A c.256+65G>A (n.256+65G>A) c.36+65G>A c.249+65G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064311G>C | CA1242461888 | SPAST | c.415+65G>C (n.415+65G>C) c.299+65G>C c.285+65G>C c.157+65G>C (n.157+65G>C) c.291+65G>C c.256+65G>C (n.256+65G>C) c.36+65G>C c.249+65G>C | dbSNP |
2 | g.32064311G= | CA1242461889 | SPAST | c.415+65G= (n.415+65G=) c.299+65G= c.285+65G= c.157+65G= (n.157+65G=) c.291+65G= c.256+65G= (n.256+65G=) c.36+65G= c.249+65G= | |
2 | g.32064311G>T | CA2658520208 | SPAST | c.415+65G>T (n.415+65G>T) c.299+65G>T c.285+65G>T c.157+65G>T (n.157+65G>T) c.291+65G>T c.256+65G>T (n.256+65G>T) c.36+65G>T c.249+65G>T | gnomAD v4 |
2 | g.32064313del | CA2658520207 | SPAST | c.415+67del (n.415+67del) c.299+67del c.285+67del c.157+67del (n.157+67del) c.291+67del c.256+67del (n.256+67del) c.36+67del c.249+67del | gnomAD v4 |
2 | g.32064312G>A | CA2658520209 | SPAST | c.415+66G>A (n.415+66G>A) c.299+66G>A c.285+66G>A c.157+66G>A (n.157+66G>A) c.291+66G>A c.256+66G>A (n.256+66G>A) c.36+66G>A c.249+66G>A | gnomAD v4 |
2 | g.32064312G= | CA1242461890 | SPAST | c.415+66G= (n.415+66G=) c.299+66G= c.285+66G= c.157+66G= (n.157+66G=) c.291+66G= c.256+66G= (n.256+66G=) c.36+66G= c.249+66G= | |
2 | g.32064312G>T | CA45201418 | SPAST | c.415+66G>T (n.415+66G>T) c.299+66G>T c.285+66G>T c.157+66G>T (n.157+66G>T) c.291+66G>T c.256+66G>T (n.256+66G>T) c.36+66G>T c.249+66G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064313G>A | CA1242461892 | SPAST | c.415+67G>A (n.415+67G>A) c.299+67G>A c.285+67G>A c.157+67G>A (n.157+67G>A) c.291+67G>A c.256+67G>A (n.256+67G>A) c.36+67G>A c.249+67G>A | dbSNP gnomAD v4 |
2 | g.32064313G>C | CA2658520210 | SPAST | c.415+67G>C (n.415+67G>C) c.299+67G>C c.285+67G>C c.157+67G>C (n.157+67G>C) c.291+67G>C c.256+67G>C (n.256+67G>C) c.36+67G>C c.249+67G>C | gnomAD v4 |
2 | g.32064313G= | CA1242461891 | SPAST | c.415+67G= (n.415+67G=) c.299+67G= c.285+67G= c.157+67G= (n.157+67G=) c.291+67G= c.256+67G= (n.256+67G=) c.36+67G= c.249+67G= | |
2 | g.32064313G>T | CA2658520211 | SPAST | c.415+67G>T (n.415+67G>T) c.299+67G>T c.285+67G>T c.157+67G>T (n.157+67G>T) c.291+67G>T c.256+67G>T (n.256+67G>T) c.36+67G>T c.249+67G>T | gnomAD v4 |
2 | g.32064314C>A | CA2576929972 | SPAST | c.415+68C>A (n.415+68C>A) c.299+68C>A c.285+68C>A c.157+68C>A (n.157+68C>A) c.291+68C>A c.256+68C>A (n.256+68C>A) c.36+68C>A c.249+68C>A | gnomAD v4 |
2 | g.32064314C>T | CA2658520212 | SPAST | c.415+68C>T (n.415+68C>T) c.299+68C>T c.285+68C>T c.157+68C>T (n.157+68C>T) c.291+68C>T c.256+68C>T (n.256+68C>T) c.36+68C>T c.249+68C>T | gnomAD v4 |
2 | g.32064315A>C | CA2658520213 | SPAST | c.415+69A>C (n.415+69A>C) c.299+69A>C c.285+69A>C c.157+69A>C (n.157+69A>C) c.291+69A>C c.256+69A>C (n.256+69A>C) c.36+69A>C c.249+69A>C | gnomAD v4 |
2 | g.32064315A>G | CA2658520214 | SPAST | c.415+69A>G (n.415+69A>G) c.299+69A>G c.285+69A>G c.157+69A>G (n.157+69A>G) c.291+69A>G c.256+69A>G (n.256+69A>G) c.36+69A>G c.249+69A>G | gnomAD v4 |
2 | g.32064316A= | CA1242461893 | SPAST | c.415+70A= (n.415+70A=) c.299+70A= c.285+70A= c.157+70A= (n.157+70A=) c.291+70A= c.256+70A= (n.256+70A=) c.36+70A= c.249+70A= | |
2 | g.32064316A>C | CA2658520215 | SPAST | c.415+70A>C (n.415+70A>C) c.299+70A>C c.285+70A>C c.157+70A>C (n.157+70A>C) c.291+70A>C c.256+70A>C (n.256+70A>C) c.36+70A>C c.249+70A>C | gnomAD v4 |
2 | g.32064316A>G | CA1242461894 | SPAST | c.415+70A>G (n.415+70A>G) c.299+70A>G c.285+70A>G c.157+70A>G (n.157+70A>G) c.291+70A>G c.256+70A>G (n.256+70A>G) c.36+70A>G c.249+70A>G | dbSNP gnomAD v4 |
2 | g.32064316A>T | CA2658520216 | SPAST | c.415+70A>T (n.415+70A>T) c.299+70A>T c.285+70A>T c.157+70A>T (n.157+70A>T) c.291+70A>T c.256+70A>T (n.256+70A>T) c.36+70A>T c.249+70A>T | gnomAD v4 |
2 | g.32064317C>A | CA2658520217 | SPAST | c.415+71C>A (n.415+71C>A) c.299+71C>A c.285+71C>A c.157+71C>A (n.157+71C>A) c.291+71C>A c.256+71C>A (n.256+71C>A) c.36+71C>A c.249+71C>A | gnomAD v4 |
2 | g.32064317C>T | CA2658520218 | SPAST | c.415+71C>T (n.415+71C>T) c.299+71C>T c.285+71C>T c.157+71C>T (n.157+71C>T) c.291+71C>T c.256+71C>T (n.256+71C>T) c.36+71C>T c.249+71C>T | gnomAD v4 |
2 | g.32064318A>C | CA2658520219 | SPAST | c.415+72A>C (n.415+72A>C) c.299+72A>C c.285+72A>C c.157+72A>C (n.157+72A>C) c.291+72A>C c.256+72A>C (n.256+72A>C) c.36+72A>C c.249+72A>C | gnomAD v4 |
2 | g.32064318A>T | CA2658520220 | SPAST | c.415+72A>T (n.415+72A>T) c.299+72A>T c.285+72A>T c.157+72A>T (n.157+72A>T) c.291+72A>T c.256+72A>T (n.256+72A>T) c.36+72A>T c.249+72A>T | gnomAD v4 |
2 | g.32064319C>A | CA1242461896 | SPAST | c.415+73C>A (n.415+73C>A) c.299+73C>A c.285+73C>A c.157+73C>A (n.157+73C>A) c.291+73C>A c.256+73C>A (n.256+73C>A) c.36+73C>A c.249+73C>A | dbSNP gnomAD v4 |
2 | g.32064319C= | CA1242461895 | SPAST | c.415+73C= (n.415+73C=) c.299+73C= c.285+73C= c.157+73C= (n.157+73C=) c.291+73C= c.256+73C= (n.256+73C=) c.36+73C= c.249+73C= | |
2 | g.32064319C>G | CA2658520222 | SPAST | c.415+73C>G (n.415+73C>G) c.299+73C>G c.285+73C>G c.157+73C>G (n.157+73C>G) c.291+73C>G c.256+73C>G (n.256+73C>G) c.36+73C>G c.249+73C>G | gnomAD v4 |
2 | g.32064319C>T | CA2658520221 | SPAST | c.415+73C>T (n.415+73C>T) c.299+73C>T c.285+73C>T c.157+73C>T (n.157+73C>T) c.291+73C>T c.256+73C>T (n.256+73C>T) c.36+73C>T c.249+73C>T | gnomAD v4 |
2 | g.32064320del | CA2658520223 | SPAST | c.415+74del (n.415+74del) c.299+74del c.285+74del c.157+74del (n.157+74del) c.291+74del c.256+74del (n.256+74del) c.36+74del c.249+74del | gnomAD v4 |
2 | g.32064319_32064320insTTTT | CA1028990208 | SPAST | c.415+73_415+74insTTTT (n.415+73_415+74insTTTT) c.299+73_299+74insTTTT c.285+73_285+74insTTTT c.157+73_157+74insTTTT (n.157+73_157+74insTTTT) c.291+73_291+74insTTTT c.256+73_256+74insTTTT (n.256+73_256+74insTTTT) c.36+73_36+74insTTTT c.249+73_249+74insTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064320C>A | CA2658520224 | SPAST | c.415+74C>A (n.415+74C>A) c.299+74C>A c.285+74C>A c.157+74C>A (n.157+74C>A) c.291+74C>A c.256+74C>A (n.256+74C>A) c.36+74C>A c.249+74C>A | gnomAD v4 |
2 | g.32064321T>A | CA2658520225 | SPAST | c.415+75T>A (n.415+75T>A) c.299+75T>A c.285+75T>A c.157+75T>A (n.157+75T>A) c.291+75T>A c.256+75T>A (n.256+75T>A) c.36+75T>A c.249+75T>A | gnomAD v4 |
2 | g.32064321T>C | CA2658520226 | SPAST | c.415+75T>C (n.415+75T>C) c.299+75T>C c.285+75T>C c.157+75T>C (n.157+75T>C) c.291+75T>C c.256+75T>C (n.256+75T>C) c.36+75T>C c.249+75T>C | gnomAD v4 |
2 | g.32064321T>G | CA2658520227 | SPAST | c.415+75T>G (n.415+75T>G) c.299+75T>G c.285+75T>G c.157+75T>G (n.157+75T>G) c.291+75T>G c.256+75T>G (n.256+75T>G) c.36+75T>G c.249+75T>G | gnomAD v4 |
2 | g.32064321_32064322insAGATCG | CA2749388917 | SPAST | c.415+75_415+76insAGATCG (n.415+75_415+76insAGATCG) c.299+75_299+76insAGATCG c.285+75_285+76insAGATCG c.157+75_157+76insAGATCG (n.157+75_157+76insAGATCG) c.291+75_291+76insAGATCG c.256+75_256+76insAGATCG (n.256+75_256+76insAGATCG) c.36+75_36+76insAGATCG c.249+75_249+76insAGATCG | |
2 | g.32064322G>A | CA2658520228 | SPAST | c.415+76G>A (n.415+76G>A) c.299+76G>A c.285+76G>A c.157+76G>A (n.157+76G>A) c.291+76G>A c.256+76G>A (n.256+76G>A) c.36+76G>A c.249+76G>A | gnomAD v4 |
2 | g.32064322G>C | CA531769509 | SPAST | c.415+76G>C (n.415+76G>C) c.299+76G>C c.285+76G>C c.157+76G>C (n.157+76G>C) c.291+76G>C c.256+76G>C (n.256+76G>C) c.36+76G>C c.249+76G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064322G= | CA1242461897 | SPAST | c.415+76G= (n.415+76G=) c.299+76G= c.285+76G= c.157+76G= (n.157+76G=) c.291+76G= c.256+76G= (n.256+76G=) c.36+76G= c.249+76G= | |
2 | g.32064322G>T | CA1028990212 | SPAST | c.415+76G>T (n.415+76G>T) c.299+76G>T c.285+76G>T c.157+76G>T (n.157+76G>T) c.291+76G>T c.256+76G>T (n.256+76G>T) c.36+76G>T c.249+76G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064322_32064323insATCGGAAGAGCACA | CA2749388918 | SPAST | c.415+76_415+77insATCGGAAGAGCACA (n.415+76_415+77insATCGGAAGAGCACA) c.299+76_299+77insATCGGAAGAGCACA c.285+76_285+77insATCGGAAGAGCACA c.157+76_157+77insATCGGAAGAGCACA (n.157+76_157+77insATCGGAAGAGCACA) c.291+76_291+77insATCGGAAGAGCACA c.256+76_256+77insATCGGAAGAGCACA (n.256+76_256+77insATCGGAAGAGCACA) c.36+76_36+77insATCGGAAGAGCACA c.249+76_249+77insATCGGAAGAGCACA | |
2 | g.32064323C>A | CA2658520229 | SPAST | c.415+77C>A (n.415+77C>A) c.299+77C>A c.285+77C>A c.157+77C>A (n.157+77C>A) c.291+77C>A c.256+77C>A (n.256+77C>A) c.36+77C>A c.249+77C>A | gnomAD v4 |
2 | g.32064323C>T | CA2658520230 | SPAST | c.415+77C>T (n.415+77C>T) c.299+77C>T c.285+77C>T c.157+77C>T (n.157+77C>T) c.291+77C>T c.256+77C>T (n.256+77C>T) c.36+77C>T c.249+77C>T | gnomAD v4 |
2 | g.32064324G>A | CA2658520231 | SPAST | c.415+78G>A (n.415+78G>A) c.299+78G>A c.285+78G>A c.157+78G>A (n.157+78G>A) c.291+78G>A c.256+78G>A (n.256+78G>A) c.36+78G>A c.249+78G>A | gnomAD v4 |
2 | g.32064324G>T | CA2595218025 | SPAST | c.415+78G>T (n.415+78G>T) c.299+78G>T c.285+78G>T c.157+78G>T (n.157+78G>T) c.291+78G>T c.256+78G>T (n.256+78G>T) c.36+78G>T c.249+78G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064325T>A | CA2576929973 | SPAST | c.415+79T>A (n.415+79T>A) c.299+79T>A c.285+79T>A c.157+79T>A (n.157+79T>A) c.291+79T>A c.256+79T>A (n.256+79T>A) c.36+79T>A c.249+79T>A | |
2 | g.32064325T>C | CA2658520232 | SPAST | c.415+79T>C (n.415+79T>C) c.299+79T>C c.285+79T>C c.157+79T>C (n.157+79T>C) c.291+79T>C c.256+79T>C (n.256+79T>C) c.36+79T>C c.249+79T>C | gnomAD v4 |
2 | g.32064325T>G | CA45201419 | SPAST | c.415+79T>G (n.415+79T>G) c.299+79T>G c.285+79T>G c.157+79T>G (n.157+79T>G) c.291+79T>G c.256+79T>G (n.256+79T>G) c.36+79T>G c.249+79T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064325T= | CA1242461898 | SPAST | c.415+79T= (n.415+79T=) c.299+79T= c.285+79T= c.157+79T= (n.157+79T=) c.291+79T= c.256+79T= (n.256+79T=) c.36+79T= c.249+79T= | |
2 | g.32064326C= | CA1242461899 | SPAST | c.415+80C= (n.415+80C=) c.299+80C= c.285+80C= c.157+80C= (n.157+80C=) c.291+80C= c.256+80C= (n.256+80C=) c.36+80C= c.249+80C= | |
2 | g.32064326C>G | CA767739325 | SPAST | c.415+80C>G (n.415+80C>G) c.299+80C>G c.285+80C>G c.157+80C>G (n.157+80C>G) c.291+80C>G c.256+80C>G (n.256+80C>G) c.36+80C>G c.249+80C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064326C>T | CA1028990217 | SPAST | c.415+80C>T (n.415+80C>T) c.299+80C>T c.285+80C>T c.157+80C>T (n.157+80C>T) c.291+80C>T c.256+80C>T (n.256+80C>T) c.36+80C>T c.249+80C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064327C>A | CA2576929974 | SPAST | c.415+81C>A (n.415+81C>A) c.299+81C>A c.285+81C>A c.157+81C>A (n.157+81C>A) c.291+81C>A c.256+81C>A (n.256+81C>A) c.36+81C>A c.249+81C>A | gnomAD v4 |
2 | g.32064327C>T | CA2658520233 | SPAST | c.415+81C>T (n.415+81C>T) c.299+81C>T c.285+81C>T c.157+81C>T (n.157+81C>T) c.291+81C>T c.256+81C>T (n.256+81C>T) c.36+81C>T c.249+81C>T | gnomAD v4 |
2 | g.32064328C>A | CA45201420 | SPAST | c.415+82C>A (n.415+82C>A) c.299+82C>A c.285+82C>A c.157+82C>A (n.157+82C>A) c.291+82C>A c.256+82C>A (n.256+82C>A) c.36+82C>A c.249+82C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064328C= | CA1242461900 | SPAST | c.415+82C= (n.415+82C=) c.299+82C= c.285+82C= c.157+82C= (n.157+82C=) c.291+82C= c.256+82C= (n.256+82C=) c.36+82C= c.249+82C= | |
2 | g.32064328C>G | CA45201421 | SPAST | c.415+82C>G (n.415+82C>G) c.299+82C>G c.285+82C>G c.157+82C>G (n.157+82C>G) c.291+82C>G c.256+82C>G (n.256+82C>G) c.36+82C>G c.249+82C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064328C>T | CA1242461901 | SPAST | c.415+82C>T (n.415+82C>T) c.299+82C>T c.285+82C>T c.157+82C>T (n.157+82C>T) c.291+82C>T c.256+82C>T (n.256+82C>T) c.36+82C>T c.249+82C>T | dbSNP gnomAD v4 |
2 | g.32064329T>C | CA2576929975 | SPAST | c.415+83T>C (n.415+83T>C) c.299+83T>C c.285+83T>C c.157+83T>C (n.157+83T>C) c.291+83T>C c.256+83T>C (n.256+83T>C) c.36+83T>C c.249+83T>C | gnomAD v4 |
2 | g.32064329T>G | CA531769510 | SPAST | c.415+83T>G (n.415+83T>G) c.299+83T>G c.285+83T>G c.157+83T>G (n.157+83T>G) c.291+83T>G c.256+83T>G (n.256+83T>G) c.36+83T>G c.249+83T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064329T= | CA1242461902 | SPAST | c.415+83T= (n.415+83T=) c.299+83T= c.285+83T= c.157+83T= (n.157+83T=) c.291+83T= c.256+83T= (n.256+83T=) c.36+83T= c.249+83T= | |
2 | g.32064332dup | CA2658520234 | SPAST | c.415+86dup (n.415+86dup) c.299+86dup c.285+86dup c.157+86dup (n.157+86dup) c.291+86dup c.256+86dup (n.256+86dup) c.36+86dup c.249+86dup | gnomAD v4 |
2 | g.32064332del | CA2658520235 | SPAST | c.415+86del (n.415+86del) c.299+86del c.285+86del c.157+86del (n.157+86del) c.291+86del c.256+86del (n.256+86del) c.36+86del c.249+86del | gnomAD v4 |
2 | g.32064330T>C | CA2658520236 | SPAST | c.415+84T>C (n.415+84T>C) c.299+84T>C c.285+84T>C c.157+84T>C (n.157+84T>C) c.291+84T>C c.256+84T>C (n.256+84T>C) c.36+84T>C c.249+84T>C | gnomAD v4 |
2 | g.32064330T>G | CA2658520237 | SPAST | c.415+84T>G (n.415+84T>G) c.299+84T>G c.285+84T>G c.157+84T>G (n.157+84T>G) c.291+84T>G c.256+84T>G (n.256+84T>G) c.36+84T>G c.249+84T>G | gnomAD v4 |
2 | g.32064331T>G | CA2658520238 | SPAST | c.415+85T>G (n.415+85T>G) c.299+85T>G c.285+85T>G c.157+85T>G (n.157+85T>G) c.291+85T>G c.256+85T>G (n.256+85T>G) c.36+85T>G c.249+85T>G | gnomAD v4 |
2 | g.32064332T>C | CA2576929976 | SPAST | c.415+86T>C (n.415+86T>C) c.299+86T>C c.285+86T>C c.157+86T>C (n.157+86T>C) c.291+86T>C c.256+86T>C (n.256+86T>C) c.36+86T>C c.249+86T>C | dbSNP |
2 | g.32064333C>A | CA2658520240 | SPAST | c.415+87C>A (n.415+87C>A) c.299+87C>A c.285+87C>A c.157+87C>A (n.157+87C>A) c.291+87C>A c.256+87C>A (n.256+87C>A) c.36+87C>A c.249+87C>A | gnomAD v4 |
2 | g.32064333C>G | CA2658520241 | SPAST | c.415+87C>G (n.415+87C>G) c.299+87C>G c.285+87C>G c.157+87C>G (n.157+87C>G) c.291+87C>G c.256+87C>G (n.256+87C>G) c.36+87C>G c.249+87C>G | gnomAD v4 |
2 | g.32064333C>T | CA2658520239 | SPAST | c.415+87C>T (n.415+87C>T) c.299+87C>T c.285+87C>T c.157+87C>T (n.157+87C>T) c.291+87C>T c.256+87C>T (n.256+87C>T) c.36+87C>T c.249+87C>T | dbSNP gnomAD v4 |
2 | g.32064334T>C | CA2658520242 | SPAST | c.415+88T>C (n.415+88T>C) c.299+88T>C c.285+88T>C c.157+88T>C (n.157+88T>C) c.291+88T>C c.256+88T>C (n.256+88T>C) c.36+88T>C c.249+88T>C | gnomAD v4 |
2 | g.32064334T>G | CA2658520243 | SPAST | c.415+88T>G (n.415+88T>G) c.299+88T>G c.285+88T>G c.157+88T>G (n.157+88T>G) c.291+88T>G c.256+88T>G (n.256+88T>G) c.36+88T>G c.249+88T>G | gnomAD v4 |
2 | g.32064335G>A | CA2658520244 | SPAST | c.415+89G>A (n.415+89G>A) c.299+89G>A c.285+89G>A c.157+89G>A (n.157+89G>A) c.291+89G>A c.256+89G>A (n.256+89G>A) c.36+89G>A c.249+89G>A | gnomAD v4 |
2 | g.32064335G>T | CA2658520245 | SPAST | c.415+89G>T (n.415+89G>T) c.299+89G>T c.285+89G>T c.157+89G>T (n.157+89G>T) c.291+89G>T c.256+89G>T (n.256+89G>T) c.36+89G>T c.249+89G>T | gnomAD v4 |
2 | g.32064336C>A | CA2576929977 | SPAST | c.415+90C>A (n.415+90C>A) c.299+90C>A c.285+90C>A c.157+90C>A (n.157+90C>A) c.291+90C>A c.256+90C>A (n.256+90C>A) c.36+90C>A c.249+90C>A | gnomAD v4 |
2 | g.32064336C= | CA1242461903 | SPAST | c.415+90C= (n.415+90C=) c.299+90C= c.285+90C= c.157+90C= (n.157+90C=) c.291+90C= c.256+90C= (n.256+90C=) c.36+90C= c.249+90C= | |
2 | g.32064336C>G | CA767739343 | SPAST | c.415+90C>G (n.415+90C>G) c.299+90C>G c.285+90C>G c.157+90C>G (n.157+90C>G) c.291+90C>G c.256+90C>G (n.256+90C>G) c.36+90C>G c.249+90C>G | dbSNP gnomAD v4 |
2 | g.32064336C>T | CA2576929978 | SPAST | c.415+90C>T (n.415+90C>T) c.299+90C>T c.285+90C>T c.157+90C>T (n.157+90C>T) c.291+90C>T c.256+90C>T (n.256+90C>T) c.36+90C>T c.249+90C>T | gnomAD v4 |
2 | g.32064337G>A | CA45201422 | SPAST | c.415+91G>A (n.415+91G>A) c.299+91G>A c.285+91G>A c.157+91G>A (n.157+91G>A) c.291+91G>A c.256+91G>A (n.256+91G>A) c.36+91G>A c.249+91G>A | dbSNP gnomAD v4 |
2 | g.32064337G= | CA1242461904 | SPAST | c.415+91G= (n.415+91G=) c.299+91G= c.285+91G= c.157+91G= (n.157+91G=) c.291+91G= c.256+91G= (n.256+91G=) c.36+91G= c.249+91G= | |
2 | g.32064337G>T | CA2658520246 | SPAST | c.415+91G>T (n.415+91G>T) c.299+91G>T c.285+91G>T c.157+91G>T (n.157+91G>T) c.291+91G>T c.256+91G>T (n.256+91G>T) c.36+91G>T c.249+91G>T | gnomAD v4 |
2 | g.32064339del | CA2576929979 | SPAST | c.415+93del (n.415+93del) c.299+93del c.285+93del c.157+93del (n.157+93del) c.291+93del c.256+93del (n.256+93del) c.36+93del c.249+93del | |
2 | g.32064338G>A | CA2658520247 | SPAST | c.415+92G>A (n.415+92G>A) c.299+92G>A c.285+92G>A c.157+92G>A (n.157+92G>A) c.291+92G>A c.256+92G>A (n.256+92G>A) c.36+92G>A c.249+92G>A | gnomAD v4 |
2 | g.32064338G>C | CA45201423 | SPAST | c.415+92G>C (n.415+92G>C) c.299+92G>C c.285+92G>C c.157+92G>C (n.157+92G>C) c.291+92G>C c.256+92G>C (n.256+92G>C) c.36+92G>C c.249+92G>C | dbSNP gnomAD v4 |
2 | g.32064338G= | CA1242461905 | SPAST | c.415+92G= (n.415+92G=) c.299+92G= c.285+92G= c.157+92G= (n.157+92G=) c.291+92G= c.256+92G= (n.256+92G=) c.36+92G= c.249+92G= | |
2 | g.32064338G>T | CA2658520248 | SPAST | c.415+92G>T (n.415+92G>T) c.299+92G>T c.285+92G>T c.157+92G>T (n.157+92G>T) c.291+92G>T c.256+92G>T (n.256+92G>T) c.36+92G>T c.249+92G>T | gnomAD v4 |
2 | g.32064339G>A | CA2658520251 | SPAST | c.415+93G>A (n.415+93G>A) c.299+93G>A c.285+93G>A c.157+93G>A (n.157+93G>A) c.291+93G>A c.256+93G>A (n.256+93G>A) c.36+93G>A c.249+93G>A | gnomAD v4 |
2 | g.32064339G>C | CA45201424 | SPAST | c.415+93G>C (n.415+93G>C) c.299+93G>C c.285+93G>C c.157+93G>C (n.157+93G>C) c.291+93G>C c.256+93G>C (n.256+93G>C) c.36+93G>C c.249+93G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064339G= | CA1242461906 | SPAST | c.415+93G= (n.415+93G=) c.299+93G= c.285+93G= c.157+93G= (n.157+93G=) c.291+93G= c.256+93G= (n.256+93G=) c.36+93G= c.249+93G= | |
2 | g.32064339G>T | CA2658520249 | SPAST | c.415+93G>T (n.415+93G>T) c.299+93G>T c.285+93G>T c.157+93G>T (n.157+93G>T) c.291+93G>T c.256+93G>T (n.256+93G>T) c.36+93G>T c.249+93G>T | gnomAD v4 |
2 | g.32064340_32064341del | CA2658520250 | SPAST | c.415+94_415+95del (n.415+94_415+95del) c.299+94_299+95del c.285+94_285+95del c.157+94_157+95del (n.157+94_157+95del) c.291+94_291+95del c.256+94_256+95del (n.256+94_256+95del) c.36+94_36+95del c.249+94_249+95del | gnomAD v4 |
2 | g.32064340del | CA2658520252 | SPAST | c.415+94del (n.415+94del) c.299+94del c.285+94del c.157+94del (n.157+94del) c.291+94del c.256+94del (n.256+94del) c.36+94del c.249+94del | gnomAD v4 |
2 | g.32064341G>A | CA2658520255 | SPAST | c.415+95G>A (n.415+95G>A) c.299+95G>A c.285+95G>A c.157+95G>A (n.157+95G>A) c.291+95G>A c.256+95G>A (n.256+95G>A) c.36+95G>A c.249+95G>A | gnomAD v4 |
2 | g.32064341G>T | CA2658520256 | SPAST | c.415+95G>T (n.415+95G>T) c.299+95G>T c.285+95G>T c.157+95G>T (n.157+95G>T) c.291+95G>T c.256+95G>T (n.256+95G>T) c.36+95G>T c.249+95G>T | gnomAD v4 |
2 | g.32064344dup | CA2658520253 | SPAST | c.415+98dup (n.415+98dup) c.299+98dup c.285+98dup c.157+98dup (n.157+98dup) c.291+98dup c.256+98dup (n.256+98dup) c.36+98dup c.249+98dup | gnomAD v4 |
2 | g.32064344del | CA2658520254 | SPAST | c.415+98del (n.415+98del) c.299+98del c.285+98del c.157+98del (n.157+98del) c.291+98del c.256+98del (n.256+98del) c.36+98del c.249+98del | gnomAD v4 |
2 | g.32064341_32064342insAAGCGCT | CA2658520258 | SPAST | c.415+95_415+96insAAGCGCT (n.415+95_415+96insAAGCGCT) c.299+95_299+96insAAGCGCT c.285+95_285+96insAAGCGCT c.157+95_157+96insAAGCGCT (n.157+95_157+96insAAGCGCT) c.291+95_291+96insAAGCGCT c.256+95_256+96insAAGCGCT (n.256+95_256+96insAAGCGCT) c.36+95_36+96insAAGCGCT c.249+95_249+96insAAGCGCT | gnomAD v4 |
2 | g.32064342G>A | CA531769511 | SPAST | c.415+96G>A (n.415+96G>A) c.299+96G>A c.285+96G>A c.157+96G>A (n.157+96G>A) c.291+96G>A c.256+96G>A (n.256+96G>A) c.36+96G>A c.249+96G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064342G= | CA1242461907 | SPAST | c.415+96G= (n.415+96G=) c.299+96G= c.285+96G= c.157+96G= (n.157+96G=) c.291+96G= c.256+96G= (n.256+96G=) c.36+96G= c.249+96G= | |
2 | g.32064342G>T | CA2658520257 | SPAST | c.415+96G>T (n.415+96G>T) c.299+96G>T c.285+96G>T c.157+96G>T (n.157+96G>T) c.291+96G>T c.256+96G>T (n.256+96G>T) c.36+96G>T c.249+96G>T | gnomAD v4 |
2 | g.32064343G>A | CA2658520259 | SPAST | c.415+97G>A (n.415+97G>A) c.299+97G>A c.285+97G>A c.157+97G>A (n.157+97G>A) c.291+97G>A c.256+97G>A (n.256+97G>A) c.36+97G>A c.249+97G>A | gnomAD v4 |
2 | g.32064343G>C | CA1242461909 | SPAST | c.415+97G>C (n.415+97G>C) c.299+97G>C c.285+97G>C c.157+97G>C (n.157+97G>C) c.291+97G>C c.256+97G>C (n.256+97G>C) c.36+97G>C c.249+97G>C | dbSNP |
2 | g.32064343G= | CA1242461908 | SPAST | c.415+97G= (n.415+97G=) c.299+97G= c.285+97G= c.157+97G= (n.157+97G=) c.291+97G= c.256+97G= (n.256+97G=) c.36+97G= c.249+97G= | |
2 | g.32064343G>T | CA2576929980 | SPAST | c.415+97G>T (n.415+97G>T) c.299+97G>T c.285+97G>T c.157+97G>T (n.157+97G>T) c.291+97G>T c.256+97G>T (n.256+97G>T) c.36+97G>T c.249+97G>T | gnomAD v4 |
2 | g.32064343_32064344insCA | CA2658520260 | SPAST | c.415+97_415+98insCA (n.415+97_415+98insCA) c.299+97_299+98insCA c.285+97_285+98insCA c.157+97_157+98insCA (n.157+97_157+98insCA) c.291+97_291+98insCA c.256+97_256+98insCA (n.256+97_256+98insCA) c.36+97_36+98insCA c.249+97_249+98insCA | gnomAD v4 |
2 | g.32064344G>A | CA2658520261 | SPAST | c.415+98G>A (n.415+98G>A) c.299+98G>A c.285+98G>A c.157+98G>A (n.157+98G>A) c.291+98G>A c.256+98G>A (n.256+98G>A) c.36+98G>A c.249+98G>A | gnomAD v4 |
2 | g.32064344G>C | CA767739355 | SPAST | c.415+98G>C (n.415+98G>C) c.299+98G>C c.285+98G>C c.157+98G>C (n.157+98G>C) c.291+98G>C c.256+98G>C (n.256+98G>C) c.36+98G>C c.249+98G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064344G= | CA1242461910 | SPAST | c.415+98G= (n.415+98G=) c.299+98G= c.285+98G= c.157+98G= (n.157+98G=) c.291+98G= c.256+98G= (n.256+98G=) c.36+98G= c.249+98G= | |
2 | g.32064344G>T | CA45201425 | SPAST | c.415+98G>T (n.415+98G>T) c.299+98G>T c.285+98G>T c.157+98G>T (n.157+98G>T) c.291+98G>T c.256+98G>T (n.256+98G>T) c.36+98G>T c.249+98G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064345A= | CA1242461911 | SPAST | c.415+99A= (n.415+99A=) c.299+99A= c.285+99A= c.157+99A= (n.157+99A=) c.291+99A= c.256+99A= (n.256+99A=) c.36+99A= c.249+99A= | |
2 | g.32064345A>G | CA45201426 | SPAST | c.415+99A>G (n.415+99A>G) c.299+99A>G c.285+99A>G c.157+99A>G (n.157+99A>G) c.291+99A>G c.256+99A>G (n.256+99A>G) c.36+99A>G c.249+99A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064345A>T | CA2658520262 | SPAST | c.415+99A>T (n.415+99A>T) c.299+99A>T c.285+99A>T c.157+99A>T (n.157+99A>T) c.291+99A>T c.256+99A>T (n.256+99A>T) c.36+99A>T c.249+99A>T | gnomAD v4 |
2 | g.32064345_32064346insGCCACACGAAGAGGAGC | CA2658520264 | SPAST | c.415+99_415+100insGCCACACGAAGAGGAGC (n.415+99_415+100insGCCACACGAAGAGGAGC) c.299+99_299+100insGCCACACGAAGAGGAGC c.285+99_285+100insGCCACACGAAGAGGAGC c.157+99_157+100insGCCACACGAAGAGGAGC (n.157+99_157+100insGCCACACGAAGAGGAGC) c.291+99_291+100insGCCACACGAAGAGGAGC c.256+99_256+100insGCCACACGAAGAGGAGC (n.256+99_256+100insGCCACACGAAGAGGAGC) c.36+99_36+100insGCCACACGAAGAGGAGC c.249+99_249+100insGCCACACGAAGAGGAGC | gnomAD v4 |
2 | g.32064346C>A | CA2658520265 | SPAST | c.415+100C>A (n.415+100C>A) c.299+100C>A c.285+100C>A c.157+100C>A (n.157+100C>A) c.291+100C>A c.256+100C>A (n.256+100C>A) c.36+100C>A c.249+100C>A | gnomAD v4 |
2 | g.32064346C>T | CA2658520263 | SPAST | c.415+100C>T (n.415+100C>T) c.299+100C>T c.285+100C>T c.157+100C>T (n.157+100C>T) c.291+100C>T c.256+100C>T (n.256+100C>T) c.36+100C>T c.249+100C>T | gnomAD v4 |
2 | g.32064347G>A | CA2658520267 | SPAST | c.415+101G>A (n.415+101G>A) c.299+101G>A c.285+101G>A c.157+101G>A (n.157+101G>A) c.291+101G>A c.256+101G>A (n.256+101G>A) c.36+101G>A c.249+101G>A | gnomAD v4 |
2 | g.32064347G>C | CA2658520266 | SPAST | c.415+101G>C (n.415+101G>C) c.299+101G>C c.285+101G>C c.157+101G>C (n.157+101G>C) c.291+101G>C c.256+101G>C (n.256+101G>C) c.36+101G>C c.249+101G>C | gnomAD v4 |
2 | g.32064347G= | CA1242461912 | SPAST | c.415+101G= (n.415+101G=) c.299+101G= c.285+101G= c.157+101G= (n.157+101G=) c.291+101G= c.256+101G= (n.256+101G=) c.36+101G= c.249+101G= | |
2 | g.32064347G>T | CA45201427 | SPAST | c.415+101G>T (n.415+101G>T) c.299+101G>T c.285+101G>T c.157+101G>T (n.157+101G>T) c.291+101G>T c.256+101G>T (n.256+101G>T) c.36+101G>T c.249+101G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064348G>A | CA1242461914 | SPAST | c.415+102G>A (n.415+102G>A) c.299+102G>A c.285+102G>A c.157+102G>A (n.157+102G>A) c.291+102G>A c.256+102G>A (n.256+102G>A) c.36+102G>A c.249+102G>A | dbSNP gnomAD v4 |
2 | g.32064348G>C | CA2658520268 | SPAST | c.415+102G>C (n.415+102G>C) c.299+102G>C c.285+102G>C c.157+102G>C (n.157+102G>C) c.291+102G>C c.256+102G>C (n.256+102G>C) c.36+102G>C c.249+102G>C | gnomAD v4 |
2 | g.32064348G= | CA1242461913 | SPAST | c.415+102G= (n.415+102G=) c.299+102G= c.285+102G= c.157+102G= (n.157+102G=) c.291+102G= c.256+102G= (n.256+102G=) c.36+102G= c.249+102G= | |
2 | g.32064348G>T | CA767739370 | SPAST | c.415+102G>T (n.415+102G>T) c.299+102G>T c.285+102G>T c.157+102G>T (n.157+102G>T) c.291+102G>T c.256+102G>T (n.256+102G>T) c.36+102G>T c.249+102G>T | dbSNP gnomAD v4 |
2 | g.32064349T>A | CA2658520269 | SPAST | c.415+103T>A (n.415+103T>A) c.299+103T>A c.285+103T>A c.157+103T>A (n.157+103T>A) c.291+103T>A c.256+103T>A (n.256+103T>A) c.36+103T>A c.249+103T>A | gnomAD v4 |
2 | g.32064349T>G | CA2658520270 | SPAST | c.415+103T>G (n.415+103T>G) c.299+103T>G c.285+103T>G c.157+103T>G (n.157+103T>G) c.291+103T>G c.256+103T>G (n.256+103T>G) c.36+103T>G c.249+103T>G | gnomAD v4 |
2 | g.32064350G>A | CA531769512 | SPAST | c.415+104G>A (n.415+104G>A) c.299+104G>A c.285+104G>A c.157+104G>A (n.157+104G>A) c.291+104G>A c.256+104G>A (n.256+104G>A) c.36+104G>A c.249+104G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064350G= | CA1242461915 | SPAST | c.415+104G= (n.415+104G=) c.299+104G= c.285+104G= c.157+104G= (n.157+104G=) c.291+104G= c.256+104G= (n.256+104G=) c.36+104G= c.249+104G= | |
2 | g.32064350G>T | CA2658520271 | SPAST | c.415+104G>T (n.415+104G>T) c.299+104G>T c.285+104G>T c.157+104G>T (n.157+104G>T) c.291+104G>T c.256+104G>T (n.256+104G>T) c.36+104G>T c.249+104G>T | gnomAD v4 |
2 | g.32064351C>A | CA2658520272 | SPAST | c.415+105C>A (n.415+105C>A) c.299+105C>A c.285+105C>A c.157+105C>A (n.157+105C>A) c.291+105C>A c.256+105C>A (n.256+105C>A) c.36+105C>A c.249+105C>A | gnomAD v4 |
2 | g.32064351C= | CA1242461916 | SPAST | c.415+105C= (n.415+105C=) c.299+105C= c.285+105C= c.157+105C= (n.157+105C=) c.291+105C= c.256+105C= (n.256+105C=) c.36+105C= c.249+105C= | |
2 | g.32064351C>T | CA1242461917 | SPAST | c.415+105C>T (n.415+105C>T) c.299+105C>T c.285+105C>T c.157+105C>T (n.157+105C>T) c.291+105C>T c.256+105C>T (n.256+105C>T) c.36+105C>T c.249+105C>T | dbSNP gnomAD v4 |
2 | g.32064352A= | CA1242461918 | SPAST | c.415+106A= (n.415+106A=) c.299+106A= c.285+106A= c.157+106A= (n.157+106A=) c.291+106A= c.256+106A= (n.256+106A=) c.36+106A= c.249+106A= | |
2 | g.32064352A>C | CA2658520273 | SPAST | c.415+106A>C (n.415+106A>C) c.299+106A>C c.285+106A>C c.157+106A>C (n.157+106A>C) c.291+106A>C c.256+106A>C (n.256+106A>C) c.36+106A>C c.249+106A>C | gnomAD v4 |
2 | g.32064352A>G | CA45201428 | SPAST | c.415+106A>G (n.415+106A>G) c.299+106A>G c.285+106A>G c.157+106A>G (n.157+106A>G) c.291+106A>G c.256+106A>G (n.256+106A>G) c.36+106A>G c.249+106A>G | dbSNP gnomAD v4 |
2 | g.32064353C>A | CA2658520275 | SPAST | c.415+107C>A (n.415+107C>A) c.299+107C>A c.285+107C>A c.157+107C>A (n.157+107C>A) c.291+107C>A c.256+107C>A (n.256+107C>A) c.36+107C>A c.249+107C>A | gnomAD v4 |
2 | g.32064353C= | CA1242461919 | SPAST | c.415+107C= (n.415+107C=) c.299+107C= c.285+107C= c.157+107C= (n.157+107C=) c.291+107C= c.256+107C= (n.256+107C=) c.36+107C= c.249+107C= | |
2 | g.32064353C>T | CA531769513 | SPAST | c.415+107C>T (n.415+107C>T) c.299+107C>T c.285+107C>T c.157+107C>T (n.157+107C>T) c.291+107C>T c.256+107C>T (n.256+107C>T) c.36+107C>T c.249+107C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064357del | CA2658520274 | SPAST | c.415+111del (n.415+111del) c.299+111del c.285+111del c.157+111del (n.157+111del) c.291+111del c.256+111del (n.256+111del) c.36+111del c.249+111del | gnomAD v4 |
2 | g.32064354C>A | CA2658520276 | SPAST | c.415+108C>A (n.415+108C>A) c.299+108C>A c.285+108C>A c.157+108C>A (n.157+108C>A) c.291+108C>A c.256+108C>A (n.256+108C>A) c.36+108C>A c.249+108C>A | gnomAD v4 |
2 | g.32064354C>T | CA2658520277 | SPAST | c.415+108C>T (n.415+108C>T) c.299+108C>T c.285+108C>T c.157+108C>T (n.157+108C>T) c.291+108C>T c.256+108C>T (n.256+108C>T) c.36+108C>T c.249+108C>T | gnomAD v4 |
2 | g.32064355C>A | CA2658520278 | SPAST | c.415+109C>A (n.415+109C>A) c.299+109C>A c.285+109C>A c.157+109C>A (n.157+109C>A) c.291+109C>A c.256+109C>A (n.256+109C>A) c.36+109C>A c.249+109C>A | gnomAD v4 |
2 | g.32064355C>G | CA2658520279 | SPAST | c.415+109C>G (n.415+109C>G) c.299+109C>G c.285+109C>G c.157+109C>G (n.157+109C>G) c.291+109C>G c.256+109C>G (n.256+109C>G) c.36+109C>G c.249+109C>G | gnomAD v4 |
2 | g.32064355C>T | CA2658520280 | SPAST | c.415+109C>T (n.415+109C>T) c.299+109C>T c.285+109C>T c.157+109C>T (n.157+109C>T) c.291+109C>T c.256+109C>T (n.256+109C>T) c.36+109C>T c.249+109C>T | gnomAD v4 |
2 | g.32064356C>A | CA2658520281 | SPAST | c.415+110C>A (n.415+110C>A) c.299+110C>A c.285+110C>A c.157+110C>A (n.157+110C>A) c.291+110C>A c.256+110C>A (n.256+110C>A) c.36+110C>A c.249+110C>A | gnomAD v4 |
2 | g.32064356C>T | CA2539487460 | SPAST | c.415+110C>T (n.415+110C>T) c.299+110C>T c.285+110C>T c.157+110C>T (n.157+110C>T) c.291+110C>T c.256+110C>T (n.256+110C>T) c.36+110C>T c.249+110C>T | gnomAD v4 |
2 | g.32064357C>A | CA2658520282 | SPAST | c.415+111C>A (n.415+111C>A) c.299+111C>A c.285+111C>A c.157+111C>A (n.157+111C>A) c.291+111C>A c.256+111C>A (n.256+111C>A) c.36+111C>A c.249+111C>A | gnomAD v4 |
2 | g.32064357C= | CA1242461920 | SPAST | c.415+111C= (n.415+111C=) c.299+111C= c.285+111C= c.157+111C= (n.157+111C=) c.291+111C= c.256+111C= (n.256+111C=) c.36+111C= c.249+111C= | |
2 | g.32064357C>T | CA767739380 | SPAST | c.415+111C>T (n.415+111C>T) c.299+111C>T c.285+111C>T c.157+111C>T (n.157+111C>T) c.291+111C>T c.256+111C>T (n.256+111C>T) c.36+111C>T c.249+111C>T | dbSNP gnomAD v4 |
2 | g.32064358G>A | CA2658520284 | SPAST | c.415+112G>A (n.415+112G>A) c.299+112G>A c.285+112G>A c.157+112G>A (n.157+112G>A) c.291+112G>A c.256+112G>A (n.256+112G>A) c.36+112G>A c.249+112G>A | gnomAD v4 |
2 | g.32064358G= | CA1242461921 | SPAST | c.415+112G= (n.415+112G=) c.299+112G= c.285+112G= c.157+112G= (n.157+112G=) c.291+112G= c.256+112G= (n.256+112G=) c.36+112G= c.249+112G= | |
2 | g.32064358G>T | CA767739385 | SPAST | c.415+112G>T (n.415+112G>T) c.299+112G>T c.285+112G>T c.157+112G>T (n.157+112G>T) c.291+112G>T c.256+112G>T (n.256+112G>T) c.36+112G>T c.249+112G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064359_32064369del | CA2658520283 | SPAST | c.415+113_415+123del (n.415+113_415+123del) c.299+113_299+123del c.285+113_285+123del c.157+113_157+123del (n.157+113_157+123del) c.291+113_291+123del c.256+113_256+123del (n.256+113_256+123del) c.36+113_36+123del c.249+113_249+123del | gnomAD v4 |
2 | g.32064359G>T | CA2555479853 | SPAST | c.415+113G>T (n.415+113G>T) c.299+113G>T c.285+113G>T c.157+113G>T (n.157+113G>T) c.291+113G>T c.256+113G>T (n.256+113G>T) c.36+113G>T c.249+113G>T | gnomAD v4 |
2 | g.32064361A= | CA1242461922 | SPAST | c.415+115A= (n.415+115A=) c.299+115A= c.285+115A= c.157+115A= (n.157+115A=) c.291+115A= c.256+115A= (n.256+115A=) c.36+115A= c.249+115A= | |
2 | g.32064361A>C | CA2658520285 | SPAST | c.415+115A>C (n.415+115A>C) c.299+115A>C c.285+115A>C c.157+115A>C (n.157+115A>C) c.291+115A>C c.256+115A>C (n.256+115A>C) c.36+115A>C c.249+115A>C | gnomAD v4 |
2 | g.32064361A>G | CA1242461923 | SPAST | c.415+115A>G (n.415+115A>G) c.299+115A>G c.285+115A>G c.157+115A>G (n.157+115A>G) c.291+115A>G c.256+115A>G (n.256+115A>G) c.36+115A>G c.249+115A>G | dbSNP gnomAD v4 |
2 | g.32064361A>T | CA1242461924 | SPAST | c.415+115A>T (n.415+115A>T) c.299+115A>T c.285+115A>T c.157+115A>T (n.157+115A>T) c.291+115A>T c.256+115A>T (n.256+115A>T) c.36+115A>T c.249+115A>T | dbSNP |
2 | g.32064362T>C | CA2658520286 | SPAST | c.415+116T>C (n.415+116T>C) c.299+116T>C c.285+116T>C c.157+116T>C (n.157+116T>C) c.291+116T>C c.256+116T>C (n.256+116T>C) c.36+116T>C c.249+116T>C | gnomAD v4 |
2 | g.32064362T>G | CA531769514 | SPAST | c.415+116T>G (n.415+116T>G) c.299+116T>G c.285+116T>G c.157+116T>G (n.157+116T>G) c.291+116T>G c.256+116T>G (n.256+116T>G) c.36+116T>G c.249+116T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064362T= | CA1242461925 | SPAST | c.415+116T= (n.415+116T=) c.299+116T= c.285+116T= c.157+116T= (n.157+116T=) c.291+116T= c.256+116T= (n.256+116T=) c.36+116T= c.249+116T= | |
2 | g.32064364G>A | CA45201429 | SPAST | c.415+118G>A (n.415+118G>A) c.299+118G>A c.285+118G>A c.157+118G>A (n.157+118G>A) c.291+118G>A c.256+118G>A (n.256+118G>A) c.36+118G>A c.249+118G>A | dbSNP gnomAD v4 |
2 | g.32064364G>C | CA1242461927 | SPAST | c.415+118G>C (n.415+118G>C) c.299+118G>C c.285+118G>C c.157+118G>C (n.157+118G>C) c.291+118G>C c.256+118G>C (n.256+118G>C) c.36+118G>C c.249+118G>C | dbSNP |
2 | g.32064364G= | CA1242461926 | SPAST | c.415+118G= (n.415+118G=) c.299+118G= c.285+118G= c.157+118G= (n.157+118G=) c.291+118G= c.256+118G= (n.256+118G=) c.36+118G= c.249+118G= | |
2 | g.32064364G>T | CA2658520287 | SPAST | c.415+118G>T (n.415+118G>T) c.299+118G>T c.285+118G>T c.157+118G>T (n.157+118G>T) c.291+118G>T c.256+118G>T (n.256+118G>T) c.36+118G>T c.249+118G>T | gnomAD v4 |
2 | g.32064365A= | CA1242461928 | SPAST | c.415+119A= (n.415+119A=) c.299+119A= c.285+119A= c.157+119A= (n.157+119A=) c.291+119A= c.256+119A= (n.256+119A=) c.36+119A= c.249+119A= | |
2 | g.32064365A>G | CA767739390 | SPAST | c.415+119A>G (n.415+119A>G) c.299+119A>G c.285+119A>G c.157+119A>G (n.157+119A>G) c.291+119A>G c.256+119A>G (n.256+119A>G) c.36+119A>G c.249+119A>G | dbSNP |
2 | g.32064366T>C | CA1242461930 | SPAST | c.415+120T>C (n.415+120T>C) c.299+120T>C c.285+120T>C c.157+120T>C (n.157+120T>C) c.291+120T>C c.256+120T>C (n.256+120T>C) c.36+120T>C c.249+120T>C | dbSNP gnomAD v4 |
2 | g.32064366T= | CA1242461929 | SPAST | c.415+120T= (n.415+120T=) c.299+120T= c.285+120T= c.157+120T= (n.157+120T=) c.291+120T= c.256+120T= (n.256+120T=) c.36+120T= c.249+120T= | |
2 | g.32064367A>G | CA2658520289 | SPAST | c.415+121A>G (n.415+121A>G) c.299+121A>G c.285+121A>G c.157+121A>G (n.157+121A>G) c.291+121A>G c.256+121A>G (n.256+121A>G) c.36+121A>G c.249+121A>G | gnomAD v4 |
2 | g.32064367dup | CA2658520288 | SPAST | c.415+121dup (n.415+121dup) c.299+121dup c.285+121dup c.157+121dup (n.157+121dup) c.291+121dup c.256+121dup (n.256+121dup) c.36+121dup c.249+121dup | gnomAD v4 |
2 | g.32064368T>A | CA1242461932 | SPAST | c.415+122T>A (n.415+122T>A) c.299+122T>A c.285+122T>A c.157+122T>A (n.157+122T>A) c.291+122T>A c.256+122T>A (n.256+122T>A) c.36+122T>A c.249+122T>A | dbSNP gnomAD v4 |
2 | g.32064368T>C | CA45201430 | SPAST | c.415+122T>C (n.415+122T>C) c.299+122T>C c.285+122T>C c.157+122T>C (n.157+122T>C) c.291+122T>C c.256+122T>C (n.256+122T>C) c.36+122T>C c.249+122T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064368T= | CA1242461931 | SPAST | c.415+122T= (n.415+122T=) c.299+122T= c.285+122T= c.157+122T= (n.157+122T=) c.291+122T= c.256+122T= (n.256+122T=) c.36+122T= c.249+122T= | |
2 | g.32064369G>A | CA2658520290 | SPAST | c.415+123G>A (n.415+123G>A) c.299+123G>A c.285+123G>A c.157+123G>A (n.157+123G>A) c.291+123G>A c.256+123G>A (n.256+123G>A) c.36+123G>A c.249+123G>A | gnomAD v4 |
2 | g.32064369G= | CA1242461933 | SPAST | c.415+123G= (n.415+123G=) c.299+123G= c.285+123G= c.157+123G= (n.157+123G=) c.291+123G= c.256+123G= (n.256+123G=) c.36+123G= c.249+123G= | |
2 | g.32064369G>T | CA767739392 | SPAST | c.415+123G>T (n.415+123G>T) c.299+123G>T c.285+123G>T c.157+123G>T (n.157+123G>T) c.291+123G>T c.256+123G>T (n.256+123G>T) c.36+123G>T c.249+123G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064370C>A | CA2658520291 | SPAST | c.415+124C>A (n.415+124C>A) c.299+124C>A c.285+124C>A c.157+124C>A (n.157+124C>A) c.291+124C>A c.256+124C>A (n.256+124C>A) c.36+124C>A c.249+124C>A | gnomAD v4 |
2 | g.32064370C>T | CA2658520292 | SPAST | c.415+124C>T (n.415+124C>T) c.299+124C>T c.285+124C>T c.157+124C>T (n.157+124C>T) c.291+124C>T c.256+124C>T (n.256+124C>T) c.36+124C>T c.249+124C>T | gnomAD v4 |
2 | g.32064373del | CA2749388919 | SPAST | c.415+127del (n.415+127del) c.299+127del c.285+127del c.157+127del (n.157+127del) c.291+127del c.256+127del (n.256+127del) c.36+127del c.249+127del | |
2 | g.32064371C>A | CA2658520293 | SPAST | c.415+125C>A (n.415+125C>A) c.299+125C>A c.285+125C>A c.157+125C>A (n.157+125C>A) c.291+125C>A c.256+125C>A (n.256+125C>A) c.36+125C>A c.249+125C>A | gnomAD v4 |
2 | g.32064371C= | CA1242461934 | SPAST | c.415+125C= (n.415+125C=) c.299+125C= c.285+125C= c.157+125C= (n.157+125C=) c.291+125C= c.256+125C= (n.256+125C=) c.36+125C= c.249+125C= | |
2 | g.32064371C>G | CA767739394 | SPAST | c.415+125C>G (n.415+125C>G) c.299+125C>G c.285+125C>G c.157+125C>G (n.157+125C>G) c.291+125C>G c.256+125C>G (n.256+125C>G) c.36+125C>G c.249+125C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064371C>T | CA2658520294 | SPAST | c.415+125C>T (n.415+125C>T) c.299+125C>T c.285+125C>T c.157+125C>T (n.157+125C>T) c.291+125C>T c.256+125C>T (n.256+125C>T) c.36+125C>T c.249+125C>T | gnomAD v4 |
2 | g.32064372C>A | CA2658520295 | SPAST | c.415+126C>A (n.415+126C>A) c.299+126C>A c.285+126C>A c.157+126C>A (n.157+126C>A) c.291+126C>A c.256+126C>A (n.256+126C>A) c.36+126C>A c.249+126C>A | gnomAD v4 |
2 | g.32064372C= | CA1242461935 | SPAST | c.415+126C= (n.415+126C=) c.299+126C= c.285+126C= c.157+126C= (n.157+126C=) c.291+126C= c.256+126C= (n.256+126C=) c.36+126C= c.249+126C= | |
2 | g.32064372C>T | CA767739397 | SPAST | c.415+126C>T (n.415+126C>T) c.299+126C>T c.285+126C>T c.157+126C>T (n.157+126C>T) c.291+126C>T c.256+126C>T (n.256+126C>T) c.36+126C>T c.249+126C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064373C>A | CA2658520297 | SPAST | c.415+127C>A (n.415+127C>A) c.299+127C>A c.285+127C>A c.157+127C>A (n.157+127C>A) c.291+127C>A c.256+127C>A (n.256+127C>A) c.36+127C>A c.249+127C>A | gnomAD v4 |
2 | g.32064373C= | CA1242461936 | SPAST | c.415+127C= (n.415+127C=) c.299+127C= c.285+127C= c.157+127C= (n.157+127C=) c.291+127C= c.256+127C= (n.256+127C=) c.36+127C= c.249+127C= | |
2 | g.32064373C>G | CA2658520296 | SPAST | c.415+127C>G (n.415+127C>G) c.299+127C>G c.285+127C>G c.157+127C>G (n.157+127C>G) c.291+127C>G c.256+127C>G (n.256+127C>G) c.36+127C>G c.249+127C>G | gnomAD v4 |
2 | g.32064373C>T | CA45201431 | SPAST | c.415+127C>T (n.415+127C>T) c.299+127C>T c.285+127C>T c.157+127C>T (n.157+127C>T) c.291+127C>T c.256+127C>T (n.256+127C>T) c.36+127C>T c.249+127C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064374G>A | CA2658520298 | SPAST | c.415+128G>A (n.415+128G>A) c.299+128G>A c.285+128G>A c.157+128G>A (n.157+128G>A) c.291+128G>A c.256+128G>A (n.256+128G>A) c.36+128G>A c.249+128G>A | gnomAD v4 |
2 | g.32064374G>T | CA2658520299 | SPAST | c.415+128G>T (n.415+128G>T) c.299+128G>T c.285+128G>T c.157+128G>T (n.157+128G>T) c.291+128G>T c.256+128G>T (n.256+128G>T) c.36+128G>T c.249+128G>T | gnomAD v4 |
2 | g.32064376dup | CA2658520300 | SPAST | c.415+130dup (n.415+130dup) c.299+130dup c.285+130dup c.157+130dup (n.157+130dup) c.291+130dup c.256+130dup (n.256+130dup) c.36+130dup c.249+130dup | gnomAD v4 |
2 | g.32064375G>A | CA2658520301 | SPAST | c.415+129G>A (n.415+129G>A) c.299+129G>A c.285+129G>A c.157+129G>A (n.157+129G>A) c.291+129G>A c.256+129G>A (n.256+129G>A) c.36+129G>A c.249+129G>A | gnomAD v4 |
2 | g.32064376G>A | CA2595218026 | SPAST | c.415+130G>A (n.415+130G>A) c.299+130G>A c.285+130G>A c.157+130G>A (n.157+130G>A) c.291+130G>A c.256+130G>A (n.256+130G>A) c.36+130G>A c.249+130G>A | gnomAD v3 gnomAD v4 |
2 | g.32064377A>G | CA2658520303 | SPAST | c.415+131A>G (n.415+131A>G) c.299+131A>G c.285+131A>G c.157+131A>G (n.157+131A>G) c.291+131A>G c.256+131A>G (n.256+131A>G) c.36+131A>G c.249+131A>G | gnomAD v4 |
2 | g.32064377_32064378insAAGCAGTCTCCCGG | CA2658520305 | SPAST | c.415+131_415+132insAAGCAGTCTCCCGG (n.415+131_415+132insAAGCAGTCTCCCGG) c.299+131_299+132insAAGCAGTCTCCCGG c.285+131_285+132insAAGCAGTCTCCCGG c.157+131_157+132insAAGCAGTCTCCCGG (n.157+131_157+132insAAGCAGTCTCCCGG) c.291+131_291+132insAAGCAGTCTCCCGG c.256+131_256+132insAAGCAGTCTCCCGG (n.256+131_256+132insAAGCAGTCTCCCGG) c.36+131_36+132insAAGCAGTCTCCCGG c.249+131_249+132insAAGCAGTCTCCCGG | gnomAD v4 |
2 | g.32064377_32064378insAAGCAGTCTCCCGGG | CA2658520304 | SPAST | c.415+131_415+132insAAGCAGTCTCCCGGG (n.415+131_415+132insAAGCAGTCTCCCGGG) c.299+131_299+132insAAGCAGTCTCCCGGG c.285+131_285+132insAAGCAGTCTCCCGGG c.157+131_157+132insAAGCAGTCTCCCGGG (n.157+131_157+132insAAGCAGTCTCCCGGG) c.291+131_291+132insAAGCAGTCTCCCGGG c.256+131_256+132insAAGCAGTCTCCCGGG (n.256+131_256+132insAAGCAGTCTCCCGGG) c.36+131_36+132insAAGCAGTCTCCCGGG c.249+131_249+132insAAGCAGTCTCCCGGG | gnomAD v4 |
2 | g.32064378G>A | CA45201432 | SPAST | c.415+132G>A (n.415+132G>A) c.299+132G>A c.285+132G>A c.157+132G>A (n.157+132G>A) c.291+132G>A c.256+132G>A (n.256+132G>A) c.36+132G>A c.249+132G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.32064378G>C | CA1242461938 | SPAST | c.415+132G>C (n.415+132G>C) c.299+132G>C c.285+132G>C c.157+132G>C (n.157+132G>C) c.291+132G>C c.256+132G>C (n.256+132G>C) c.36+132G>C c.249+132G>C | dbSNP gnomAD v4 |
2 | g.32064378G= | CA1242461937 | SPAST | c.415+132G= (n.415+132G=) c.299+132G= c.285+132G= c.157+132G= (n.157+132G=) c.291+132G= c.256+132G= (n.256+132G=) c.36+132G= c.249+132G= | |
2 | g.32064379A>G | CA2658520306 | SPAST | c.415+133A>G (n.415+133A>G) c.299+133A>G c.285+133A>G c.157+133A>G (n.157+133A>G) c.291+133A>G c.256+133A>G (n.256+133A>G) c.36+133A>G c.249+133A>G | gnomAD v4 |
2 | g.32064380C>A | CA2658520307 | SPAST | c.415+134C>A (n.415+134C>A) c.299+134C>A c.285+134C>A c.157+134C>A (n.157+134C>A) c.291+134C>A c.256+134C>A (n.256+134C>A) c.36+134C>A c.249+134C>A | gnomAD v4 |
2 | g.32064380C= | CA1242461939 | SPAST | c.415+134C= (n.415+134C=) c.299+134C= c.285+134C= c.157+134C= (n.157+134C=) c.291+134C= c.256+134C= (n.256+134C=) c.36+134C= c.249+134C= | |
2 | g.32064380C>G | CA1028990237 | SPAST | c.415+134C>G (n.415+134C>G) c.299+134C>G c.285+134C>G c.157+134C>G (n.157+134C>G) c.291+134C>G c.256+134C>G (n.256+134C>G) c.36+134C>G c.249+134C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064381T>A | CA2658520308 | SPAST | c.415+135T>A (n.415+135T>A) c.299+135T>A c.285+135T>A c.157+135T>A (n.157+135T>A) c.291+135T>A c.256+135T>A (n.256+135T>A) c.36+135T>A c.249+135T>A | gnomAD v4 |
2 | g.32064382G>A | CA2658520309 | SPAST | c.415+136G>A (n.415+136G>A) c.299+136G>A c.285+136G>A c.157+136G>A (n.157+136G>A) c.291+136G>A c.256+136G>A (n.256+136G>A) c.36+136G>A c.249+136G>A | gnomAD v4 |
2 | g.32064382G>C | CA1242461942 | SPAST | c.415+136G>C (n.415+136G>C) c.299+136G>C c.285+136G>C c.157+136G>C (n.157+136G>C) c.291+136G>C c.256+136G>C (n.256+136G>C) c.36+136G>C c.249+136G>C | dbSNP gnomAD v4 |
2 | g.32064382G= | CA1242461940 | SPAST | c.415+136G= (n.415+136G=) c.299+136G= c.285+136G= c.157+136G= (n.157+136G=) c.291+136G= c.256+136G= (n.256+136G=) c.36+136G= c.249+136G= | |
2 | g.32064382G>T | CA1242461941 | SPAST | c.415+136G>T (n.415+136G>T) c.299+136G>T c.285+136G>T c.157+136G>T (n.157+136G>T) c.291+136G>T c.256+136G>T (n.256+136G>T) c.36+136G>T c.249+136G>T | dbSNP gnomAD v4 |
2 | g.32064383C>A | CA2658520313 | SPAST | c.415+137C>A (n.415+137C>A) c.299+137C>A c.285+137C>A c.157+137C>A (n.157+137C>A) c.291+137C>A c.256+137C>A (n.256+137C>A) c.36+137C>A c.249+137C>A | gnomAD v4 |
2 | g.32064383C>G | CA2658520314 | SPAST | c.415+137C>G (n.415+137C>G) c.299+137C>G c.285+137C>G c.157+137C>G (n.157+137C>G) c.291+137C>G c.256+137C>G (n.256+137C>G) c.36+137C>G c.249+137C>G | gnomAD v4 |
2 | g.32064383C>T | CA2658520312 | SPAST | c.415+137C>T (n.415+137C>T) c.299+137C>T c.285+137C>T c.157+137C>T (n.157+137C>T) c.291+137C>T c.256+137C>T (n.256+137C>T) c.36+137C>T c.249+137C>T | gnomAD v4 |
2 | g.32064383dup | CA2658520311 | SPAST | c.415+137dup (n.415+137dup) c.299+137dup c.285+137dup c.157+137dup (n.157+137dup) c.291+137dup c.256+137dup (n.256+137dup) c.36+137dup c.249+137dup | gnomAD v4 |
2 | g.32064384T>C | CA2658520317 | SPAST | c.415+138T>C (n.415+138T>C) c.299+138T>C c.285+138T>C c.157+138T>C (n.157+138T>C) c.291+138T>C c.256+138T>C (n.256+138T>C) c.36+138T>C c.249+138T>C | dbSNP gnomAD v4 |
2 | g.32064386T>C | CA1242461944 | SPAST | c.415+140T>C (n.415+140T>C) c.299+140T>C c.285+140T>C c.157+140T>C (n.157+140T>C) c.291+140T>C c.256+140T>C (n.256+140T>C) c.36+140T>C c.249+140T>C | dbSNP gnomAD v4 |
2 | g.32064386T= | CA1242461943 | SPAST | c.415+140T= (n.415+140T=) c.299+140T= c.285+140T= c.157+140T= (n.157+140T=) c.291+140T= c.256+140T= (n.256+140T=) c.36+140T= c.249+140T= | |
2 | g.32064387C= | CA1242461945 | SPAST | c.415+141C= (n.415+141C=) c.299+141C= c.285+141C= c.157+141C= (n.157+141C=) c.291+141C= c.256+141C= (n.256+141C=) c.36+141C= c.249+141C= | |
2 | g.32064387C>T | CA1028990238 | SPAST | c.415+141C>T (n.415+141C>T) c.299+141C>T c.285+141C>T c.157+141C>T (n.157+141C>T) c.291+141C>T c.256+141C>T (n.256+141C>T) c.36+141C>T c.249+141C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.32064387_32064400delinsCCCGTAGGTCGGAG | CA1242461946 | SPAST | c.415+141_415+154delinsCCCGTAGGTCGGAG (n.415+141_415+154delinsCCCGTAGGTCGGAG) c.299+141_299+154delinsCCCGTAGGTCGGAG c.285+141_285+154delinsCCCGTAGGTCGGAG c.157+141_157+154delinsCCCGTAGGTCGGAG (n.157+141_157+154delinsCCCGTAGGTCGGAG) c.291+141_291+154delinsCCCGTAGGTCGGAG c.256+141_256+154delinsCCCGTAGGTCGGAG (n.256+141_256+154delinsCCCGTAGGTCGGAG) c.36+141_36+154delinsCCCGTAGGTCGGAG c.249+141_249+154delinsCCCGTAGGTCGGAG |