Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25007037_25007038delinsGC | CA2420206960 | ARX | c.1448+73_1448+74delinsGC (n.1448+73_1448+74delinsGC) c.61+73_61+74delinsGC | |
X | g.25007038C>A | CA2420206963 | ARX | c.1448+73G>T (n.1448+73G>T) c.61+73G>T | dbSNP gnomAD v4 |
X | g.25007038C= | CA2420206962 | ARX | c.1448+73G= (n.1448+73G=) c.61+73G= | |
X | g.25007038C>T | CA2693353104 | ARX | c.1448+73G>A (n.1448+73G>A) c.61+73G>A | gnomAD v4 |
X | g.25007039dup | CA2842839865 | ARX | c.1448+73dup (n.1448+73dup) c.61+73dup | |
X | g.25007039del | CA2420206961 | ARX | c.1448+73del (n.1448+73del) c.61+73del | dbSNP |
X | g.25007039C>A | CA2579637269 | ARX | c.1448+72G>T (n.1448+72G>T) c.61+72G>T | gnomAD v4 |
X | g.25007039C>G | CA2693353105 | ARX | c.1448+72G>C (n.1448+72G>C) c.61+72G>C | gnomAD v4 |
X | g.25007039C>T | CA2579637268 | ARX | c.1448+72G>A (n.1448+72G>A) c.61+72G>A | gnomAD v4 |
X | g.25007040T>C | CA2693353106 | ARX | c.1448+71A>G (n.1448+71A>G) c.61+71A>G | gnomAD v4 |
X | g.25007041C>A | CA2693353107 | ARX | c.1448+70G>T (n.1448+70G>T) c.61+70G>T | gnomAD v4 |
X | g.25007041C>T | CA2693353108 | ARX | c.1448+70G>A (n.1448+70G>A) c.61+70G>A | gnomAD v4 |
X | g.25007042C>A | CA2693353109 | ARX | c.1448+69G>T (n.1448+69G>T) c.61+69G>T | gnomAD v4 |
X | g.25007042C>T | CA2693353110 | ARX | c.1448+69G>A (n.1448+69G>A) c.61+69G>A | gnomAD v4 |
X | g.25007043T>C | CA1131755530 | ARX | c.1448+68A>G (n.1448+68A>G) c.61+68A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007043T= | CA2420206964 | ARX | c.1448+68A= (n.1448+68A=) c.61+68A= | |
X | g.25007044C>A | CA2693353111 | ARX | c.1448+67G>T (n.1448+67G>T) c.61+67G>T | gnomAD v4 |
X | g.25007044C>T | CA2579637270 | ARX | c.1448+67G>A (n.1448+67G>A) c.61+67G>A | |
X | g.25007045C>A | CA2693353112 | ARX | c.1448+66G>T (n.1448+66G>T) c.61+66G>T | gnomAD v4 |
X | g.25007045C>G | CA2839357207 | ARX | c.1448+66G>C (n.1448+66G>C) c.61+66G>C | |
X | g.25007045C>T | CA2524293861 | ARX | c.1448+66G>A (n.1448+66G>A) c.61+66G>A | |
X | g.25007047_25007050dup | CA2579637271 | ARX | c.1448+63_1448+66dup (n.1448+63_1448+66dup) c.61+63_61+66dup | gnomAD v4 |
X | g.25007046C>A | CA2693353113 | ARX | c.1448+65G>T (n.1448+65G>T) c.61+65G>T | gnomAD v4 |
X | g.25007047T>C | CA2693353114 | ARX | c.1448+64A>G (n.1448+64A>G) c.61+64A>G | gnomAD v4 |
X | g.25007048G>A | CA874143122 | ARX | c.1448+63C>T (n.1448+63C>T) c.61+63C>T | dbSNP gnomAD v4 |
X | g.25007048G= | CA2420206965 | ARX | c.1448+63C= (n.1448+63C=) c.61+63C= | |
X | g.25007048G>T | CA2579637272 | ARX | c.1448+63C>A (n.1448+63C>A) c.61+63C>A | gnomAD v4 |
X | g.25007049C>A | CA2693353115 | ARX | c.1448+62G>T (n.1448+62G>T) c.61+62G>T | gnomAD v4 |
X | g.25007049C>T | CA2579637274 | ARX | c.1448+62G>A (n.1448+62G>A) c.61+62G>A | |
X | g.25007053del | CA2579637273 | ARX | c.1448+62del (n.1448+62del) c.61+62del | gnomAD v4 |
X | g.25007050C>A | CA2693353116 | ARX | c.1448+61G>T (n.1448+61G>T) c.61+61G>T | gnomAD v4 |
X | g.25007050C>T | CA2579637275 | ARX | c.1448+61G>A (n.1448+61G>A) c.61+61G>A | |
X | g.25007051C>A | CA2531712673 | ARX | c.1448+60G>T (n.1448+60G>T) c.61+60G>T | |
X | g.25007051C= | CA2420206966 | ARX | c.1448+60G= (n.1448+60G=) c.61+60G= | |
X | g.25007051C>G | CA1131755535 | ARX | c.1448+60G>C (n.1448+60G>C) c.61+60G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007051C>T | CA327732610 | ARX | c.1448+60G>A (n.1448+60G>A) c.61+60G>A | dbSNP |
X | g.25007052C>A | CA2693353117 | ARX | c.1448+59G>T (n.1448+59G>T) c.61+59G>T | gnomAD v4 |
X | g.25007052C>T | CA2693353118 | ARX | c.1448+59G>A (n.1448+59G>A) c.61+59G>A | gnomAD v4 |
X | g.25007055G>C | CA2693353119 | ARX | c.1448+56C>G (n.1448+56C>G) c.61+56C>G | gnomAD v4 |
X | g.25007055G>T | CA2579637276 | ARX | c.1448+56C>A (n.1448+56C>A) c.61+56C>A | gnomAD v4 |
X | g.25007056C>T | CA2693353120 | ARX | c.1448+55G>A (n.1448+55G>A) c.61+55G>A | gnomAD v4 |
X | g.25007057C>A | CA2693353121 | ARX | c.1448+54G>T (n.1448+54G>T) c.61+54G>T | gnomAD v4 |
X | g.25007058T>A | CA874143126 | ARX | c.1448+53A>T (n.1448+53A>T) c.61+53A>T | dbSNP |
X | g.25007058T>C | CA2693353122 | ARX | c.1448+53A>G (n.1448+53A>G) c.61+53A>G | gnomAD v4 |
X | g.25007058T>G | CA2693353123 | ARX | c.1448+53A>C (n.1448+53A>C) c.61+53A>C | gnomAD v4 |
X | g.25007058T= | CA2420206967 | ARX | c.1448+53A= (n.1448+53A=) c.61+53A= | |
X | g.25007059C>A | CA2693353124 | ARX | c.1448+52G>T (n.1448+52G>T) c.61+52G>T | gnomAD v4 |
X | g.25007059C>T | CA2693353125 | ARX | c.1448+52G>A (n.1448+52G>A) c.61+52G>A | gnomAD v4 |
X | g.25007059_25007061delinsCTG | CA2420206968 | ARX | c.1448+50_1448+52delinsCAG (n.1448+50_1448+52delinsCAG) c.61+50_61+52delinsCAG | |
X | g.25007060T>C | CA2420206970 | ARX | c.1448+51A>G (n.1448+51A>G) c.61+51A>G | dbSNP gnomAD v4 |
X | g.25007060T= | CA2420206969 | ARX | c.1448+51A= (n.1448+51A=) c.61+51A= | |
X | g.25007065_25007066del | CA874143127 | ARX | c.1448+50_1448+51del (n.1448+50_1448+51del) c.61+50_61+51del | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007061G>A | CA2693353126 | ARX | c.1448+50C>T (n.1448+50C>T) c.61+50C>T | gnomAD v4 |
X | g.25007061G>T | CA2693353127 | ARX | c.1448+50C>A (n.1448+50C>A) c.61+50C>A | gnomAD v4 |
X | g.25007062T>C | CA2741737894 | ARX | c.1448+49A>G (n.1448+49A>G) c.61+49A>G | |
X | g.25007062T>G | CA2579637277 | ARX | c.1448+49A>C (n.1448+49A>C) c.61+49A>C | |
X | g.25007063G>T | CA2693353128 | ARX | c.1448+48C>A (n.1448+48C>A) c.61+48C>A | gnomAD v4 |
X | g.25007065G>A | CA10373789 | ARX | c.1448+46C>T (n.1448+46C>T) c.61+46C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007065G= | CA2420206971 | ARX | c.1448+46C= (n.1448+46C=) c.61+46C= | |
X | g.25007065G>T | CA2693353129 | ARX | c.1448+46C>A (n.1448+46C>A) c.61+46C>A | gnomAD v4 |
X | g.25007066T>A | CA2693353130 | ARX | c.1448+45A>T (n.1448+45A>T) c.61+45A>T | gnomAD v4 |
X | g.25007068T>G | CA2693353131 | ARX | c.1448+43A>C (n.1448+43A>C) c.61+43A>C | gnomAD v4 |
X | g.25007069G>T | CA2693353132 | ARX | c.1448+42C>A (n.1448+42C>A) c.61+42C>A | gnomAD v4 |
X | g.25007073_25007074del | CA2579637278 | ARX | c.1448+41_1448+42del (n.1448+41_1448+42del) c.61+41_61+42del | |
X | g.25007070A>G | CA2741737895 | ARX | c.1448+41T>C (n.1448+41T>C) c.61+41T>C | |
X | g.25007071G>A | CA2579637279 | ARX | c.1448+40C>T (n.1448+40C>T) c.61+40C>T | |
X | g.25007071G>C | CA2579637280 | ARX | c.1448+40C>G (n.1448+40C>G) c.61+40C>G | gnomAD v4 |
X | g.25007071G>T | CA2693353133 | ARX | c.1448+40C>A (n.1448+40C>A) c.61+40C>A | gnomAD v4 |
X | g.25007071_25007075delinsGAGAC | CA2420206972 | ARX | c.1448+36_1448+40delinsGTCTC (n.1448+36_1448+40delinsGTCTC) c.61+36_61+40delinsGTCTC | |
X | g.25007088_25007091dup | CA10373791 | ARX | c.1448+36_1448+39dup (n.1448+36_1448+39dup) c.61+36_61+39dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007088_25007091del | CA10373790 | ARX | c.1448+36_1448+39del (n.1448+36_1448+39del) c.61+36_61+39del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007084_25007091del | CA2579637282 | ARX | c.1448+32_1448+39del (n.1448+32_1448+39del) c.61+32_61+39del | gnomAD v4 |
X | g.25007073G>T | CA2693353134 | ARX | c.1448+38C>A (n.1448+38C>A) c.61+38C>A | gnomAD v4 |
X | g.25007074A>G | CA2693353135 | ARX | c.1448+37T>C (n.1448+37T>C) c.61+37T>C | gnomAD v4 |
X | g.25007075C>A | CA2693353136 | ARX | c.1448+36G>T (n.1448+36G>T) c.61+36G>T | gnomAD v4 |
X | g.25007075C= | CA2420206973 | ARX | c.1448+36G= (n.1448+36G=) c.61+36G= | |
X | g.25007075C>T | CA2693353137 | ARX | c.1448+36G>A (n.1448+36G>A) c.61+36G>A | gnomAD v4 |
X | g.25007076A= | CA2420206974 | ARX | c.1448+35T= (n.1448+35T=) c.61+35T= | |
X | g.25007076A>G | CA2693353138 | ARX | c.1448+35T>C (n.1448+35T>C) c.61+35T>C | gnomAD v4 |
X | g.25007076A>T | CA2693353139 | ARX | c.1448+35T>A (n.1448+35T>A) c.61+35T>A | gnomAD v4 |
X | g.25007078_25007079insAAGA | CA641364590 | ARX | c.1448+35_1448+36insTTCT (n.1448+35_1448+36insTTCT) c.61+35_61+36insTTCT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007077G>A | CA2842839866 | ARX | c.1448+34C>T (n.1448+34C>T) c.61+34C>T | |
X | g.25007077G>T | CA2693353140 | ARX | c.1448+34C>A (n.1448+34C>A) c.61+34C>A | gnomAD v4 |
X | g.25007077_25007079dup | CA10373792 | ARX | c.1448+32_1448+34dup (n.1448+32_1448+34dup) c.61+32_61+34dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007078A= | CA2420206975 | ARX | c.1448+33T= (n.1448+33T=) c.61+33T= | |
X | g.25007078A>G | CA2420206976 | ARX | c.1448+33T>C (n.1448+33T>C) c.61+33T>C | dbSNP gnomAD v4 |
X | g.25007079C>A | CA2420206977 | ARX | c.1448+32G>T (n.1448+32G>T) c.61+32G>T | dbSNP |
X | g.25007079C= | CA2420206978 | ARX | c.1448+32G= (n.1448+32G=) c.61+32G= | |
X | g.25007079C>G | CA10373793 | ARX | c.1448+32G>C (n.1448+32G>C) c.61+32G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007079C>T | CA10373794 | ARX | c.1448+32G>A (n.1448+32G>A) c.61+32G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007080A>G | CA2693353141 | ARX | c.1448+31T>C (n.1448+31T>C) c.61+31T>C | gnomAD v4 |
X | g.25007081G>T | CA2693353142 | ARX | c.1448+30C>A (n.1448+30C>A) c.61+30C>A | gnomAD v4 |
X | g.25007082A>G | CA2693353143 | ARX | c.1448+29T>C (n.1448+29T>C) c.61+29T>C | gnomAD v4 |
X | g.25007083C>A | CA641364591 | ARX | c.1448+28G>T (n.1448+28G>T) c.61+28G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007083C= | CA2420206979 | ARX | c.1448+28G= (n.1448+28G=) c.61+28G= | |
X | g.25007083C>G | CA2693353144 | ARX | c.1448+28G>C (n.1448+28G>C) c.61+28G>C | gnomAD v4 |
X | g.25007083_25007085delinsCAG | CA2420206980 | ARX | c.1448+26_1448+28delinsCTG (n.1448+26_1448+28delinsCTG) c.61+26_61+28delinsCTG | |
X | g.25007084A>G | CA2693353145 | ARX | c.1448+27T>C (n.1448+27T>C) c.61+27T>C | gnomAD v4 |
X | g.25007084A>T | CA2693353146 | ARX | c.1448+27T>A (n.1448+27T>A) c.61+27T>A | gnomAD v4 |
X | g.25007085_25007086del | CA1131755550 | ARX | c.1448+26_1448+27del (n.1448+26_1448+27del) c.61+26_61+27del | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007085G>A | CA2693353147 | ARX | c.1448+26C>T (n.1448+26C>T) c.61+26C>T | gnomAD v4 |
X | g.25007085G>C | CA874143144 | ARX | c.1448+26C>G (n.1448+26C>G) c.61+26C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007085G= | CA2420206981 | ARX | c.1448+26C= (n.1448+26C=) c.61+26C= | |
X | g.25007085G>T | CA2693353148 | ARX | c.1448+26C>A (n.1448+26C>A) c.61+26C>A | gnomAD v4 |
X | g.25007087C>A | CA2693353149 | ARX | c.1448+24G>T (n.1448+24G>T) c.61+24G>T | gnomAD v4 |
X | g.25007087C= | CA2420206982 | ARX | c.1448+24G= (n.1448+24G=) c.61+24G= | |
X | g.25007087C>T | CA10373795 | ARX | c.1448+24G>A (n.1448+24G>A) c.61+24G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007088A= | CA2420206983 | ARX | c.1448+23T= (n.1448+23T=) c.61+23T= | |
X | g.25007088A>C | CA2693353150 | ARX | c.1448+23T>G (n.1448+23T>G) c.61+23T>G | gnomAD v4 |
X | g.25007088A>G | CA2420206984 | ARX | c.1448+23T>C (n.1448+23T>C) c.61+23T>C | dbSNP |
X | g.25007089G>T | CA2839357205 | ARX | c.1448+22C>A (n.1448+22C>A) c.61+22C>A | |
X | g.25007091_25007092insGGAC | CA10373796 | ARX | c.1448+22_1448+23insCGTC (n.1448+22_1448+23insCGTC) c.61+22_61+23insCGTC | dbSNP ExAC gnomAD v2 |
X | g.25007091C>A | CA2693353151 | ARX | c.1448+20G>T (n.1448+20G>T) c.61+20G>T | gnomAD v4 |
X | g.25007091C= | CA2420206985 | ARX | c.1448+20G= (n.1448+20G=) c.61+20G= | |
X | g.25007091C>T | CA1131755555 | ARX | c.1448+20G>A (n.1448+20G>A) c.61+20G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25007093del | CA2740092065 | ARX | c.1448+19del (n.1448+19del) c.61+19del | ClinVar |
X | g.25007094C>G | CA2579637285 | ARX | c.1448+17G>C (n.1448+17G>C) c.61+17G>C | |
X | g.25007095del | CA2579637286 | ARX | c.1448+17del (n.1448+17del) c.61+17del | |
X | g.25007095C>A | CA2693353152 | ARX | c.1448+16G>T (n.1448+16G>T) c.61+16G>T | gnomAD v4 |
X | g.25007095C= | CA2420206986 | ARX | c.1448+16G= (n.1448+16G=) c.61+16G= | |
X | g.25007095C>T | CA10373797 | ARX | c.1448+16G>A (n.1448+16G>A) c.61+16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007096G>A | CA2573158493 | ARX | c.1448+15C>T (n.1448+15C>T) c.61+15C>T | ClinVar dbSNP gnomAD v4 |
X | g.25007096G>T | CA2693353153 | ARX | c.1448+15C>A (n.1448+15C>A) c.61+15C>A | gnomAD v4 |
X | g.25007097A= | CA2420206987 | ARX | c.1448+14T= (n.1448+14T=) c.61+14T= | |
X | g.25007097A>G | CA641364592 | ARX | c.1448+14T>C (n.1448+14T>C) c.61+14T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25007097dup | CA2838262471 | ARX | c.1448+14dup (n.1448+14dup) c.61+14dup | |
X | g.25007098G>T | CA2693353154 | ARX | c.1448+13C>A (n.1448+13C>A) c.61+13C>A | gnomAD v4 |
X | g.25007099G>A | CA641364593 | ARX | c.1448+12C>T (n.1448+12C>T) c.61+12C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007099G= | CA2420206988 | ARX | c.1448+12C= (n.1448+12C=) c.61+12C= | |
X | g.25007100C>A | CA10373798 | ARX | c.1448+11G>T (n.1448+11G>T) c.61+11G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007100C= | CA2420206989 | ARX | c.1448+11G= (n.1448+11G=) c.61+11G= | |
X | g.25007100C>G | CA2740092066 | ARX | c.1448+11G>C (n.1448+11G>C) c.61+11G>C | ClinVar |
X | g.25007100_25007101insAT | CA2545099482 | ARX | c.1448+10_1448+11insAT (n.1448+10_1448+11insAT) c.61+10_61+11insAT | gnomAD v4 |
X | g.25007101T>C | CA10373799 | ARX | c.1448+10A>G (n.1448+10A>G) c.61+10A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007101T= | CA2420206990 | ARX | c.1448+10A= (n.1448+10A=) c.61+10A= | |
X | g.25007102G= | CA2420206991 | ARX | c.1448+9C= (n.1448+9C=) c.61+9C= | |
X | g.25007102G>T | CA10373800 | ARX | c.1448+9C>A (n.1448+9C>A) c.61+9C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007102_25007104del | CA2499226600 | ARX | c.1448+7_1448+9del (n.1448+7_1448+9del) c.61+7_61+9del | ClinVar dbSNP gnomAD v4 |
X | g.25007103C= | CA2420206992 | ARX | c.1448+8G= (n.1448+8G=) c.61+8G= | |
X | g.25007103C>T | CA10373801 | ARX | c.1448+8G>A (n.1448+8G>A) c.61+8G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007104G>T | CA2693353155 | ARX | c.1448+7C>A (n.1448+7C>A) c.61+7C>A | gnomAD v4 |
X | g.25007104dup | CA2842839867 | ARX | c.1448+7dup (n.1448+7dup) c.61+7dup | |
X | g.25007105C>A | CA2525601228 | ARX | c.1448+6G>T (n.1448+6G>T) c.61+6G>T | gnomAD v4 |
X | g.25007105C= | CA2420206993 | ARX | c.1448+6G= (n.1448+6G=) c.61+6G= | |
X | g.25007105C>T | CA641364594 | ARX | c.1448+6G>A (n.1448+6G>A) c.61+6G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007106G>A | CA1131755564 | ARX | c.1448+5C>T (n.1448+5C>T) c.61+5C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007106G>C | CA2420206995 | ARX | c.1448+5C>G (n.1448+5C>G) c.61+5C>G | dbSNP |
X | g.25007106G= | CA2420206994 | ARX | c.1448+5C= (n.1448+5C=) c.61+5C= | |
X | g.25007109A= | CA2420206996 | ARX | c.1448+2T= (n.1448+2T=) c.61+2T= | |
X | g.25007109A>C | CA412610988 | ARX | c.1448+2T>G (n.1448+2T>G) c.61+2T>G | |
X | g.25007109A>G | CA412610989 | ARX | c.1448+2T>C (n.1448+2T>C) c.61+2T>C | |
X | g.25007109A>T | CA412610990 | ARX | c.1448+2T>A (n.1448+2T>A) c.61+2T>A | |
X | g.25007110C>A | CA412610991 | ARX | c.1448+1G>T (n.1448+1G>T) c.61+1G>T | |
X | g.25007110C>G | CA412610993 | ARX | c.1448+1G>C (n.1448+1G>C) c.61+1G>C | |
X | g.25007110C>T | CA412610992 | ARX | c.1448+1G>A (n.1448+1G>A) c.61+1G>A | |
X | g.25007112_25007115dup | CA915950802 | ARX | c.1446_1448+1dup c.59_61+1dup | ClinVar dbSNP |
X | g.25007111C>A | CA412610994 | ARX | c.1448G>T (p.Arg483Met) c.61G>T | |
X | g.25007111C= | CA2420206997 | ARX | c.1448G= (p.Arg483=) c.61G= | |
X | g.25007111C>G | CA412610995 | ARX | c.1448G>C (p.Arg483Thr) c.61G>C | ClinVar |
X | g.25007111C>T | CA171145 | ARX | c.1448G>A (p.Arg483Lys) c.61G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25007112T>A | CA412610996 | ARX | c.1447A>T (p.Arg483Trp) c.60A>T | |
X | g.25007112T>C | CA412610997 | ARX | c.1447A>G (p.Arg483Gly) c.60A>G | |
X | g.25007112T>G | CA515946935 | ARX | c.1447A>C (p.Arg483=) c.60A>C | |
X | g.25007117_25007123dup | CA2695232853 | ARX | c.1441_1447dup (p.Arg483IlefsTer?) c.54_60dup | |
X | g.25007113G>A | CA515946936 | ARX | c.1446C>T (p.Gly482=) c.59C>T | gnomAD v4 |
X | g.25007113G>C | CA515946937 | ARX | c.1446C>G (p.Gly482=) c.59C>G | ClinVar gnomAD v4 |
X | g.25007113G>T | CA515946938 | ARX | c.1446C>A (p.Gly482=) c.59C>A | gnomAD v4 |
X | g.25007115_25007136del | CA2695232854 | ARX | c.1425_1446del (p.Phe476GlyfsTer9) c.38_59del | |
X | g.25007114C>A | CA412610998 | ARX | c.1445G>T (p.Gly482Val) c.58G>T | |
X | g.25007114C>G | CA412610999 | ARX | c.1445G>C (p.Gly482Ala) c.58G>C | |
X | g.25007114C>T | CA412611000 | ARX | c.1445G>A (p.Gly482Asp) c.58G>A | gnomAD v4 |
X | g.25007115C>A | CA412611001 | ARX | c.1444G>T (p.Gly482Cys) c.57G>T | gnomAD v4 |
X | g.25007115C= | CA2420206998 | ARX | c.1444G= (p.Gly482=) c.57G= | |
X | g.25007115C>G | CA412611002 | ARX | c.1444G>C (p.Gly482Arg) c.57G>C | dbSNP |
X | g.25007115C>T | CA412611003 | ARX | c.1444G>A (p.Gly482Ser) c.57G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25007116G>A | CA10373802 | ARX | c.1443C>T (p.Phe481=) c.56C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25007116G>C | CA412611005 | ARX | c.1443C>G (p.Phe481Leu) c.56C>G | |
X | g.25007116G= | CA2420206999 | ARX | c.1443C= (p.Phe481=) c.56C= | |
X | g.25007116G>T | CA412611004 | ARX | c.1443C>A (p.Phe481Leu) c.56C>A | gnomAD v4 |
X | g.25007116dup | CA2499226601 | ARX | c.1443dup (p.Gly482ArgfsTer?) c.56dup | ClinVar dbSNP |
X | g.25007117A= | CA2420207000 | ARX | c.1442T= (p.Phe481=) c.55T= | |
X | g.25007117A>C | CA412611006 | ARX | c.1442T>G (p.Phe481Cys) c.55T>G | |
X | g.25007117A>G | CA327732611 | ARX | c.1442T>C (p.Phe481Ser) c.55T>C | dbSNP |
X | g.25007117A>T | CA412611007 | ARX | c.1442T>A (p.Phe481Tyr) c.55T>A | |
X | g.25007118A>C | CA412611008 | ARX | c.1441T>G (p.Phe481Val) c.54T>G | |
X | g.25007118A>G | CA412611009 | ARX | c.1441T>C (p.Phe481Leu) c.54T>C | |
X | g.25007118A>T | CA412611010 | ARX | c.1441T>A (p.Phe481Ile) c.54T>A | |
X | g.25007119T>A | CA515946939 | ARX | c.1440A>T (p.Ala480=) c.53A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25007119T>C | CA515946940 | ARX | c.1440A>G (p.Ala480=) c.53A>G | |
X | g.25007119T>G | CA515946941 | ARX | c.1440A>C (p.Ala480=) c.53A>C | gnomAD v4 |
X | g.25007119T= | CA2420207001 | ARX | c.1440A= (p.Ala480=) c.53A= | |
X | g.25007120G>A | CA412611011 | ARX | c.1439C>T (p.Ala480Val) c.52C>T | |
X | g.25007120G>C | CA412611012 | ARX | c.1439C>G (p.Ala480Gly) c.52C>G | gnomAD v4 |
X | g.25007120G>T | CA412611013 | ARX | c.1439C>A (p.Ala480Glu) c.52C>A | |
X | g.25007121C>A | CA412611014 | ARX | c.1438G>T (p.Ala480Ser) c.51G>T | gnomAD v4 |
X | g.25007121C= | CA2420207002 | ARX | c.1438G= (p.Ala480=) c.51G= | |
X | g.25007121C>G | CA412611015 | ARX | c.1438G>C (p.Ala480Pro) c.51G>C | |
X | g.25007121C>T | CA412611016 | ARX | c.1438G>A (p.Ala480Thr) c.51G>A | dbSNP gnomAD v4 |
X | g.25007122C>A | CA515946942 | ARX | c.1437G>T (p.Pro479=) c.50G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.25007122C= | CA2420207003 | ARX | c.1437G= (p.Pro479=) c.50G= | |
X | g.25007122C>G | CA515946943 | ARX | c.1437G>C (p.Pro479=) c.50G>C | |
X | g.25007122C>T | CA515946944 | ARX | c.1437G>A (p.Pro479=) c.50G>A | gnomAD v4 |
X | g.25007123G>A | CA412611019 | ARX | c.1436C>T (p.Pro479Leu) c.49C>T | gnomAD v4 |
X | g.25007123G>C | CA412611017 | ARX | c.1436C>G (p.Pro479Arg) c.49C>G | dbSNP |
X | g.25007123G= | CA2420207004 | ARX | c.1436C= (p.Pro479=) c.49C= | |
X | g.25007123G>T | CA412611018 | ARX | c.1436C>A (p.Pro479Gln) c.49C>A | |
X | g.25007124G>A | CA412611020 | ARX | c.1435C>T (p.Pro479Ser) c.48C>T | |
X | g.25007124G>C | CA412611021 | ARX | c.1435C>G (p.Pro479Ala) c.48C>G | |
X | g.25007124G>T | CA412611022 | ARX | c.1435C>A (p.Pro479Thr) c.48C>A | gnomAD v4 |
X | g.25007125G>A | CA515946945 | ARX | c.1434C>T (p.Ser478=) c.47C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.25007125G>C | CA412611023 | ARX | c.1434C>G (p.Ser478Arg) c.47C>G | |
X | g.25007125G= | CA2420207005 | ARX | c.1434C= (p.Ser478=) c.47C= | |
X | g.25007125G>T | CA412611024 | ARX | c.1434C>A (p.Ser478Arg) c.47C>A | gnomAD v4 COSMIC |
X | g.25007126C>A | CA412611025 | ARX | c.1433G>T (p.Ser478Ile) c.46G>T | gnomAD v4 |
X | g.25007126C>G | CA412611026 | ARX | c.1433G>C (p.Ser478Thr) c.46G>C | |
X | g.25007126C>T | CA412611027 | ARX | c.1433G>A (p.Ser478Asn) c.46G>A | gnomAD v4 |
X | g.25007127T>A | CA412611028 | ARX | c.1432A>T (p.Ser478Cys) c.45A>T | |
X | g.25007127T>C | CA412611029 | ARX | c.1432A>G (p.Ser478Gly) c.45A>G | gnomAD v4 |
X | g.25007127T>G | CA412611030 | ARX | c.1432A>C (p.Ser478Arg) c.45A>C | gnomAD v4 |
X | g.25007128G>A | CA515946946 | ARX | c.1431C>T (p.Ile477=) c.44C>T | dbSNP |
X | g.25007128G>C | CA412611031 | ARX | c.1431C>G (p.Ile477Met) c.44C>G | |
X | g.25007128G= | CA2420207006 | ARX | c.1431C= (p.Ile477=) c.44C= | |
X | g.25007128G>T | CA515946947 | ARX | c.1431C>A (p.Ile477=) c.44C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.25007129del | CA2580100519 | ARX | c.1430del (p.Ile477ThrfsTer15) c.43del | ClinVar |
X | g.25007129A= | CA2420207007 | ARX | c.1430T= (p.Ile477=) c.43T= | |
X | g.25007129A>C | CA412611033 | ARX | c.1430T>G (p.Ile477Ser) c.43T>G | dbSNP |
X | g.25007129A>G | CA412611034 | ARX | c.1430T>C (p.Ile477Thr) c.43T>C | |
X | g.25007129A>T | CA412611032 | ARX | c.1430T>A (p.Ile477Asn) c.43T>A | |
X | g.25007130T>A | CA412611036 | ARX | c.1429A>T (p.Ile477Phe) c.42A>T | |
X | g.25007130T>C | CA412611035 | ARX | c.1429A>G (p.Ile477Val) c.42A>G | dbSNP |
X | g.25007130T>G | CA412611037 | ARX | c.1429A>C (p.Ile477Leu) c.42A>C | |
X | g.25007130T= | CA2420207009 | ARX | c.1429A= (p.Ile477=) c.42A= | |
X | g.25007130_25007145delinsTGAAAGCTGGGTGTCG | CA2420207008 | ARX | c.1414_1429delinsCGACACCCAGCTTTCA (p.Arg472=) c.27_42delinsCGACACCCAGCTTTCA | |
X | g.25007131G>A | CA515946948 | ARX | c.1428C>T (p.Phe476=) c.41C>T | ClinVar |
X | g.25007131G>C | CA412611038 | ARX | c.1428C>G (p.Phe476Leu) c.41C>G | |
X | g.25007131G>T | CA412611039 | ARX | c.1428C>A (p.Phe476Leu) c.41C>A | |
X | g.25007131_25007132delinsTT | CA2695232855 | ARX | c.1427_1428delinsAA (p.Phe476Ter) c.40_41delinsAA | |
X | g.25007134_25007148del | CA915950803 | ARX | c.1414_1428del (p.Arg472_Phe476del) c.27_41del | ClinVar dbSNP |
X | g.25007132A>C | CA412611040 | ARX | c.1427T>G (p.Phe476Cys) c.40T>G | |
X | g.25007132A>G | CA412611041 | ARX | c.1427T>C (p.Phe476Ser) c.40T>C | gnomAD v4 |
X | g.25007132A>T | CA412611042 | ARX | c.1427T>A (p.Phe476Tyr) c.40T>A | |
X | g.25007133A>C | CA412611043 | ARX | c.1426T>G (p.Phe476Val) c.39T>G | |
X | g.25007133A>G | CA412611044 | ARX | c.1426T>C (p.Phe476Leu) c.39T>C | |
X | g.25007133A>T | CA412611045 | ARX | c.1426T>A (p.Phe476Ile) c.39T>A | |
X | g.25007134A>C | CA515946949 | ARX | c.1425T>G (p.Ala475=) c.38T>G | |
X | g.25007134A>G | CA515946950 | ARX | c.1425T>C (p.Ala475=) c.38T>C | ClinVar dbSNP |
X | g.25007134A>T | CA515946951 | ARX | c.1425T>A (p.Ala475=) c.38T>A | |
X | g.25007135G>A | CA412611046 | ARX | c.1424C>T (p.Ala475Val) c.37C>T | |
X | g.25007135G>C | CA412611047 | ARX | c.1424C>G (p.Ala475Gly) c.37C>G | |
X | g.25007135G>T | CA412611048 | ARX | c.1424C>A (p.Ala475Asp) c.37C>A | gnomAD v4 |
X | g.25007135dup | CA2842839868 | ARX | c.1424dup (p.Ile477HisfsTer?) c.37dup | |
X | g.25007136C>A | CA412611051 | ARX | c.1423G>T (p.Ala475Ser) c.36G>T | |
X | g.25007136C>G | CA412611049 | ARX | c.1423G>C (p.Ala475Pro) c.36G>C | |
X | g.25007136C>T | CA412611050 | ARX | c.1423G>A (p.Ala475Thr) c.36G>A | |
X | g.25007137T>A | CA515946952 | ARX | c.1422A>T (p.Pro474=) c.35A>T | |
X | g.25007137T>C | CA515946954 | ARX | c.1422A>G (p.Pro474=) c.35A>G | |
X | g.25007137T>G | CA515946953 | ARX | c.1422A>C (p.Pro474=) c.35A>C | |
X | g.25007138G>A | CA412611052 | ARX | c.1421C>T (p.Pro474Leu) c.34C>T | gnomAD v4 |
X | g.25007138G>C | CA412611053 | ARX | c.1421C>G (p.Pro474Arg) c.34C>G | |
X | g.25007138G>T | CA412611054 | ARX | c.1421C>A (p.Pro474Gln) c.34C>A | gnomAD v4 |