X | g.25010173_25010194del | CA2693353575 | ARX | c.1119+69_1119+90del (n.1119+69_1119+90del)
| gnomAD v4 |
X | g.25010183_25010219del | CA2693353591 | ARX | c.1119+46_1119+82del (n.1119+46_1119+82del)
| gnomAD v4 |
X | g.25010194_25010195insCCCC | CA2820110261 | ARX | c.1119+68_1119+69insGGGG (n.1119+68_1119+69insGGGG)
| |
X | g.25010194_25010195insCTCTCTCTCTCTCCCCCC | CA2693353620 | ARX | c.1119+68_1119+69insGGGAGAGAGAGAGAGGGG (n.1119+68_1119+69insGGGAGAGAGAGAGAGGGG)
| gnomAD v4 |
X | g.25010194dup | CA2693353619 | ARX | c.1119+68dup (n.1119+68dup)
| gnomAD v4 |
X | g.25010192_25010194dup | CA2820110262 | ARX | c.1119+66_1119+68dup (n.1119+66_1119+68dup)
| |
X | g.25010194C>A | CA2693353623 | ARX | c.1119+66G>T (n.1119+66G>T)
| gnomAD v4 |
X | g.25010194C>T | CA2820110264 | ARX | c.1119+66G>A (n.1119+66G>A)
| |
X | g.25010194_25010195insCAC | CA2693353627 | ARX | c.1119+66_1119+67insTGG (n.1119+66_1119+67insTGG)
| gnomAD v4 |
X | g.25010194_25010195insCAAAC | CA2693353622 | ARX | c.1119+66_1119+67insTTTGG (n.1119+66_1119+67insTTTGG)
| gnomAD v4 |
X | g.25010194_25010195insCAAGC | CA2693353631 | ARX | c.1119+66_1119+67insCTTGG (n.1119+66_1119+67insCTTGG)
| gnomAD v4 |
X | g.25010194_25010195insCACAC | CA2693353626 | ARX | c.1119+66_1119+67insTGTGG (n.1119+66_1119+67insTGTGG)
| gnomAD v4 |
X | g.25010194_25010195insCCCAC | CA2693353624 | ARX | c.1119+66_1119+67insTGGGG (n.1119+66_1119+67insTGGGG)
| gnomAD v4 |
X | g.25010194_25010195insCACACAC | CA2693353625 | ARX | c.1119+66_1119+67insTGTGTGG (n.1119+66_1119+67insTGTGTGG)
| gnomAD v4 |
X | g.25010195_25010196insAAACA | CA2693353628 | ARX | c.1119+66_1119+67insTTTTG (n.1119+66_1119+67insTTTTG)
| gnomAD v4 |
X | g.25010194_25010195dup | CA2693353629 | ARX | c.1119+65_1119+66dup (n.1119+65_1119+66dup)
| gnomAD v4 |
X | g.25010194_25010195insCA | CA2693353650 | ARX | c.1119+65_1119+66insTG (n.1119+65_1119+66insTG)
| gnomAD v4 |
X | g.25010194_25010195insCT | CA2693353639 | ARX | c.1119+65_1119+66insAG (n.1119+65_1119+66insAG)
| gnomAD v4 |
X | g.25010194_25010195insCAA | CA2693353651 | ARX | c.1119+65_1119+66insTTG (n.1119+65_1119+66insTTG)
| gnomAD v4 |
X | g.25010194_25010195insCAAA | CA2693353652 | ARX | c.1119+65_1119+66insTTTG (n.1119+65_1119+66insTTTG)
| gnomAD v4 |
X | g.25010194_25010195insCAAG | CA2693353656 | ARX | c.1119+65_1119+66insCTTG (n.1119+65_1119+66insCTTG)
| gnomAD v4 |
X | g.25010194_25010195insCACA | CA2693353633 | ARX | c.1119+65_1119+66insTGTG (n.1119+65_1119+66insTGTG)
| gnomAD v4 |
X | g.25010194_25010195insCAAAA | CA2693353653 | ARX | c.1119+65_1119+66insTTTTG (n.1119+65_1119+66insTTTTG)
| gnomAD v4 |
X | g.25010194_25010195insCACAA | CA2693353634 | ARX | c.1119+65_1119+66insTTGTG (n.1119+65_1119+66insTTGTG)
| gnomAD v4 |
X | g.25010194_25010195insCAAAAA | CA2693353654 | ARX | c.1119+65_1119+66insTTTTTG (n.1119+65_1119+66insTTTTTG)
| gnomAD v4 |
X | g.25010194_25010195insCAAACA | CA2693353643 | ARX | c.1119+65_1119+66insTGTTTG (n.1119+65_1119+66insTGTTTG)
| gnomAD v4 |
X | g.25010194_25010195insCACAAA | CA2693353635 | ARX | c.1119+65_1119+66insTTTGTG (n.1119+65_1119+66insTTTGTG)
| gnomAD v4 |
X | g.25010194_25010195insCACACA | CA2693353637 | ARX | c.1119+65_1119+66insTGTGTG (n.1119+65_1119+66insTGTGTG)
| gnomAD v4 |
X | g.25010194_25010195insCACACAA | CA2693353638 | ARX | c.1119+65_1119+66insTTGTGTG (n.1119+65_1119+66insTTGTGTG)
| gnomAD v4 |
X | g.25010194_25010195insCAAAAAAA | CA2693353655 | ARX | c.1119+65_1119+66insTTTTTTTG (n.1119+65_1119+66insTTTTTTTG)
| gnomAD v4 |
X | g.25010194_25010195insCACAAAAA | CA2693353636 | ARX | c.1119+65_1119+66insTTTTTGTG (n.1119+65_1119+66insTTTTTGTG)
| gnomAD v4 |
X | g.25010195del | CA2693353640 | ARX | c.1119+65del (n.1119+65del)
| gnomAD v4 |
X | g.25010195A= | CA2420208002 | ARX | c.1119+65T= (n.1119+65T=)
| |
X | g.25010195A>C | CA327732822 | ARX | c.1119+65T>G (n.1119+65T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010195A>G | CA2420208001 | ARX | c.1119+65T>C (n.1119+65T>C)
| dbSNP gnomAD v4 |
X | g.25010195A>T | CA2820110278 | ARX | c.1119+65T>A (n.1119+65T>A)
| |
X | g.25010195_25010196insAA | CA2693353644 | ARX | c.1119+65_1119+66insTT (n.1119+65_1119+66insTT)
| gnomAD v4 |
X | g.25010195_25010196insAAA | CA2693353645 | ARX | c.1119+65_1119+66insTTT (n.1119+65_1119+66insTTT)
| gnomAD v4 |
X | g.25010195_25010196insAAAA | CA2693353642 | ARX | c.1119+65_1119+66insTTTT (n.1119+65_1119+66insTTTT)
| gnomAD v4 |
X | g.25010195_25010196insAAAAA | CA2693353646 | ARX | c.1119+65_1119+66insTTTTT (n.1119+65_1119+66insTTTTT)
| gnomAD v4 |
X | g.25010195_25010196insACAAA | CA2693353648 | ARX | c.1119+65_1119+66insTTGTT (n.1119+65_1119+66insTTGTT)
| gnomAD v4 |
X | g.25010195_25010196insACACAA | CA2693353649 | ARX | c.1119+65_1119+66insTGTGTT (n.1119+65_1119+66insTGTGTT)
| gnomAD v4 |
X | g.25010195_25010196insAAACAAAA | CA2693353647 | ARX | c.1119+65_1119+66insTTTGTTTT (n.1119+65_1119+66insTTTGTTTT)
| gnomAD v4 |
X | g.25010195_25010196del | CA2579637390 | ARX | c.1119+64_1119+65del (n.1119+64_1119+65del)
| gnomAD v4 |
X | g.25010195_25010199delinsATCTC | CA2420208000 | ARX | c.1119+61_1119+65delinsGAGAT (n.1119+61_1119+65delinsGAGAT)
| |
X | g.25010195_25010204del | CA2693353632 | ARX | c.1119+56_1119+65del (n.1119+56_1119+65del)
| gnomAD v4 |
X | g.25010195_25010206del | CA2693353641 | ARX | c.1119+54_1119+65del (n.1119+54_1119+65del)
| gnomAD v4 |
X | g.25010196T>A | CA2420208005 | ARX | c.1119+64A>T (n.1119+64A>T)
| dbSNP gnomAD v4 |
X | g.25010196T>C | CA1131756275 | ARX | c.1119+64A>G (n.1119+64A>G)
| gnomAD v3 gnomAD v4 |
X | g.25010196T>G | CA2579637391 | ARX | c.1119+64A>C (n.1119+64A>C)
| gnomAD v4 |
X | g.25010196T= | CA2420208004 | ARX | c.1119+64A= (n.1119+64A=)
| |
X | g.25010196_25010206del | CA1131756274 | ARX | c.1119+54_1119+64del (n.1119+54_1119+64del)
| gnomAD v3 gnomAD v4 |
X | g.25010206_25010207dup | CA2420208003 | ARX | c.1119+63_1119+64dup (n.1119+63_1119+64dup)
| dbSNP gnomAD v4 |
X | g.25010206_25010207del | CA412611700 | ARX | c.1119+63_1119+64del (n.1119+63_1119+64del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010204_25010207del | CA874145129 | ARX | c.1119+61_1119+64del (n.1119+61_1119+64del)
| dbSNP gnomAD v4 |
X | g.25010197C>A | CA2579637392 | ARX | c.1119+63G>T (n.1119+63G>T)
| gnomAD v4 |
X | g.25010198T>A | CA2579637393 | ARX | c.1119+62A>T (n.1119+62A>T)
| gnomAD v4 |
X | g.25010198T>C | CA1131756281 | ARX | c.1119+62A>G (n.1119+62A>G)
| gnomAD v3 gnomAD v4 |
X | g.25010198T>G | CA2420208007 | ARX | c.1119+62A>C (n.1119+62A>C)
| dbSNP gnomAD v4 |
X | g.25010198T= | CA2420208006 | ARX | c.1119+62A= (n.1119+62A=)
| |
X | g.25010199C>A | CA2693353657 | ARX | c.1119+61G>T (n.1119+61G>T)
| gnomAD v4 |
X | g.25010199C>T | CA2693353658 | ARX | c.1119+61G>A (n.1119+61G>A)
| gnomAD v4 |
X | g.25010200T>A | CA2693353659 | ARX | c.1119+60A>T (n.1119+60A>T)
| gnomAD v4 |
X | g.25010200T>C | CA2693353660 | ARX | c.1119+60A>G (n.1119+60A>G)
| gnomAD v4 |
X | g.25010201C>A | CA2693353661 | ARX | c.1119+59G>T (n.1119+59G>T)
| gnomAD v4 |
X | g.25010201C= | CA2420208008 | ARX | c.1119+59G= (n.1119+59G=)
| |
X | g.25010201C>G | CA1131756289 | ARX | c.1119+59G>C (n.1119+59G>C)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010201C>T | CA874145133 | ARX | c.1119+59G>A (n.1119+59G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010202T>A | CA2693353662 | ARX | c.1119+58A>T (n.1119+58A>T)
| gnomAD v4 |
X | g.25010202T>C | CA2693353663 | ARX | c.1119+58A>G (n.1119+58A>G)
| gnomAD v4 |
X | g.25010203C>A | CA2693353664 | ARX | c.1119+57G>T (n.1119+57G>T)
| gnomAD v4 |
X | g.25010203C>T | CA2693353665 | ARX | c.1119+57G>A (n.1119+57G>A)
| gnomAD v4 |
X | g.25010204T>A | CA2693353666 | ARX | c.1119+56A>T (n.1119+56A>T)
| gnomAD v4 |
X | g.25010204T>C | CA2693353667 | ARX | c.1119+56A>G (n.1119+56A>G)
| gnomAD v4 |
X | g.25010205C= | CA2420208009 | ARX | c.1119+55G= (n.1119+55G=)
| |
X | g.25010205C>G | CA327732823 | ARX | c.1119+55G>C (n.1119+55G>C)
| dbSNP gnomAD v4 |
X | g.25010205C>T | CA2693353668 | ARX | c.1119+55G>A (n.1119+55G>A)
| gnomAD v4 |
X | g.25010206_25010209del | CA2579637394 | ARX | c.1119+52_1119+55del (n.1119+52_1119+55del)
| |
X | g.25010206T>A | CA2693353669 | ARX | c.1119+54A>T (n.1119+54A>T)
| gnomAD v4 |
X | g.25010206T>C | CA874145138 | ARX | c.1119+54A>G (n.1119+54A>G)
| dbSNP gnomAD v4 |
X | g.25010206T= | CA2420208010 | ARX | c.1119+54A= (n.1119+54A=)
| |
X | g.25010207C>A | CA2693353670 | ARX | c.1119+53G>T (n.1119+53G>T)
| gnomAD v4 |
X | g.25010207C>T | CA2693353671 | ARX | c.1119+53G>A (n.1119+53G>A)
| gnomAD v4 |
X | g.25010208_25010209del | CA2579637395 | ARX | c.1119+52_1119+53del (n.1119+52_1119+53del)
| |
X | g.25010208C>A | CA2693353672 | ARX | c.1119+52G>T (n.1119+52G>T)
| gnomAD v4 |
X | g.25010208C>T | CA2693353673 | ARX | c.1119+52G>A (n.1119+52G>A)
| gnomAD v4 |
X | g.25010209C>A | CA2579637396 | ARX | c.1119+51G>T (n.1119+51G>T)
| |
X | g.25010209C>T | CA2693353674 | ARX | c.1119+51G>A (n.1119+51G>A)
| gnomAD v4 |
X | g.25010210A= | CA2420208011 | ARX | c.1119+50T= (n.1119+50T=)
| |
X | g.25010210A>C | CA641006232 | ARX | c.1119+50T>G (n.1119+50T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010210A>G | CA2693353677 | ARX | c.1119+50T>C (n.1119+50T>C)
| gnomAD v4 |
X | g.25010210A>T | CA2693353675 | ARX | c.1119+50T>A (n.1119+50T>A)
| gnomAD v4 |
X | g.25010210_25010214del | CA2693353676 | ARX | c.1119+46_1119+50del (n.1119+46_1119+50del)
| gnomAD v4 |
X | g.25010211C= | CA2420208012 | ARX | c.1119+49G= (n.1119+49G=)
| |
X | g.25010211C>G | CA641006233 | ARX | c.1119+49G>C (n.1119+49G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010211C>T | CA2693353678 | ARX | c.1119+49G>A (n.1119+49G>A)
| gnomAD v4 |
X | g.25010212T>A | CA10373833 | ARX | c.1119+48A>T (n.1119+48A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25010212T>C | CA2420208014 | ARX | c.1119+48A>G (n.1119+48A>G)
| dbSNP |
X | g.25010212T= | CA2420208013 | ARX | c.1119+48A= (n.1119+48A=)
| |
X | g.25010213G>A | CA2693353680 | ARX | c.1119+47C>T (n.1119+47C>T)
| gnomAD v4 |
X | g.25010213G>C | CA1131756295 | ARX | c.1119+47C>G (n.1119+47C>G)
| gnomAD v3 gnomAD v4 |
X | g.25010213G>T | CA2579637397 | ARX | c.1119+47C>A (n.1119+47C>A)
| gnomAD v4 |
X | g.25010214del | CA2693353679 | ARX | c.1119+47del (n.1119+47del)
| gnomAD v4 |
X | g.25010214G>A | CA2579637398 | ARX | c.1119+46C>T (n.1119+46C>T)
| gnomAD v4 |
X | g.25010214G>C | CA2693353681 | ARX | c.1119+46C>G (n.1119+46C>G)
| gnomAD v4 |
X | g.25010214G>T | CA2579637399 | ARX | c.1119+46C>A (n.1119+46C>A)
| gnomAD v4 |
X | g.25010214_25010215delinsGC | CA2420208015 | ARX | c.1119+45_1119+46delinsGC (n.1119+45_1119+46delinsGC)
| |
X | g.25010215C= | CA2420208016 | ARX | c.1119+45G= (n.1119+45G=)
| |
X | g.25010215C>G | CA2579637400 | ARX | c.1119+45G>C (n.1119+45G>C)
| |
X | g.25010215C>T | CA874145153 | ARX | c.1119+45G>A (n.1119+45G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010219del | CA641006234 | ARX | c.1119+45del (n.1119+45del)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25010216C>A | CA2693353682 | ARX | c.1119+44G>T (n.1119+44G>T)
| gnomAD v4 |
X | g.25010216C= | CA2420208017 | ARX | c.1119+44G= (n.1119+44G=)
| |
X | g.25010216C>T | CA2420208018 | ARX | c.1119+44G>A (n.1119+44G>A)
| dbSNP gnomAD v4 |
X | g.25010218C>T | CA2693353683 | ARX | c.1119+42G>A (n.1119+42G>A)
| gnomAD v4 |
X | g.25010219C>A | CA2693353684 | ARX | c.1119+41G>T (n.1119+41G>T)
| gnomAD v4 |
X | g.25010219C>T | CA2693353685 | ARX | c.1119+41G>A (n.1119+41G>A)
| gnomAD v4 |
X | g.25010220A= | CA2420208019 | ARX | c.1119+40T= (n.1119+40T=)
| |
X | g.25010220A>C | CA874145161 | ARX | c.1119+40T>G (n.1119+40T>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010220A>T | CA2820110283 | ARX | c.1119+40T>A (n.1119+40T>A)
| |
X | g.25010221G>C | CA2693353686 | ARX | c.1119+39C>G (n.1119+39C>G)
| gnomAD v4 |
X | g.25010221G>T | CA2693353687 | ARX | c.1119+39C>A (n.1119+39C>A)
| gnomAD v4 |
X | g.25010221_25010222insTGGGAGAGGG | CA641006235 | ARX | c.1119+39_1119+40insCCTCTCCCAC (n.1119+39_1119+40insCCTCTCCCAC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010222C>T | CA2693353689 | ARX | c.1119+38G>A (n.1119+38G>A)
| gnomAD v4 |
X | g.25010228_25010234del | CA2693353688 | ARX | c.1119+32_1119+38del (n.1119+32_1119+38del)
| gnomAD v4 |
X | g.25010224C>A | CA2820110285 | ARX | c.1119+36G>T (n.1119+36G>T)
| |
X | g.25010224C>G | CA2820110286 | ARX | c.1119+36G>C (n.1119+36G>C)
| |
X | g.25010224C>T | CA2693353690 | ARX | c.1119+36G>A (n.1119+36G>A)
| gnomAD v4 |
X | g.25010225T>A | CA2693353691 | ARX | c.1119+35A>T (n.1119+35A>T)
| gnomAD v4 |
X | g.25010225T>C | CA1131756299 | ARX | c.1119+35A>G (n.1119+35A>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010225T= | CA2420208020 | ARX | c.1119+35A= (n.1119+35A=)
| |
X | g.25010226C= | CA2420208021 | ARX | c.1119+34G= (n.1119+34G=)
| |
X | g.25010226C>T | CA1131756303 | ARX | c.1119+34G>A (n.1119+34G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010234_25010237del | CA2579637401 | ARX | c.1119+31_1119+34del (n.1119+31_1119+34del)
| gnomAD v4 |
X | g.25010227C>T | CA2741737900 | ARX | c.1119+33G>A (n.1119+33G>A)
| |
X | g.25010228T>A | CA2693353692 | ARX | c.1119+32A>T (n.1119+32A>T)
| gnomAD v4 |
X | g.25010228T>C | CA2420208023 | ARX | c.1119+32A>G (n.1119+32A>G)
| dbSNP gnomAD v4 |
X | g.25010228T= | CA2420208022 | ARX | c.1119+32A= (n.1119+32A=)
| |
X | g.25010232T>A | CA2693353693 | ARX | c.1119+28A>T (n.1119+28A>T)
| gnomAD v4 |
X | g.25010232T>C | CA2693353694 | ARX | c.1119+28A>G (n.1119+28A>G)
| gnomAD v4 |
X | g.25010236T>A | CA2693353695 | ARX | c.1119+24A>T (n.1119+24A>T)
| gnomAD v4 |
X | g.25010236T>C | CA2420208025 | ARX | c.1119+24A>G (n.1119+24A>G)
| dbSNP |
X | g.25010236T= | CA2420208024 | ARX | c.1119+24A= (n.1119+24A=)
| |
X | g.25010238T>G | CA2820110288 | ARX | c.1119+22A>C (n.1119+22A>C)
| |
X | g.25010240C= | CA2420208026 | ARX | c.1119+20G= (n.1119+20G=)
| |
X | g.25010240C>G | CA2420208027 | ARX | c.1119+20G>C (n.1119+20G>C)
| dbSNP |
X | g.25010240C>T | CA2573158496 | ARX | c.1119+20G>A (n.1119+20G>A)
| ClinVar dbSNP gnomAD v4 |
X | g.25010243T>A | CA2693353696 | ARX | c.1119+17A>T (n.1119+17A>T)
| gnomAD v4 |
X | g.25010243T>C | CA2502279183 | ARX | c.1119+17A>G (n.1119+17A>G)
| |
X | g.25010244C>T | CA2580100525 | ARX | c.1119+16G>A (n.1119+16G>A)
| ClinVar |
X | g.25010246G>A | CA10373834 | ARX | c.1119+14C>T (n.1119+14C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25010246G>C | CA2693353697 | ARX | c.1119+14C>G (n.1119+14C>G)
| gnomAD v4 |
X | g.25010246G= | CA2420208028 | ARX | c.1119+14C= (n.1119+14C=)
| |
X | g.25010248del | CA2820110289 | ARX | c.1119+13del (n.1119+13del)
| |
X | g.25010250T>C | CA2820110290 | ARX | c.1119+10A>G (n.1119+10A>G)
| |
X | g.25010251G>A | CA10373835 | ARX | c.1119+9C>T (n.1119+9C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25010251G= | CA2420208029 | ARX | c.1119+9C= (n.1119+9C=)
| |
X | g.25010252C>A | CA874145170 | ARX | c.1119+8G>T (n.1119+8G>T)
| dbSNP |
X | g.25010252C= | CA2420208030 | ARX | c.1119+8G= (n.1119+8G=)
| |
X | g.25010254G>A | CA10373836 | ARX | c.1119+6C>T (n.1119+6C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010254G>C | CA1131756308 | ARX | c.1119+6C>G (n.1119+6C>G)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25010254G= | CA2420208031 | ARX | c.1119+6C= (n.1119+6C=)
| |
X | g.25010258A>C | CA412611701 | ARX | c.1119+2T>G (n.1119+2T>G)
| |
X | g.25010258A>G | CA412611702 | ARX | c.1119+2T>C (n.1119+2T>C)
| |
X | g.25010258A>T | CA412611703 | ARX | c.1119+2T>A (n.1119+2T>A)
| |
X | g.25010259C>A | CA412611706 | ARX | c.1119+1G>T (n.1119+1G>T)
| |
X | g.25010259C>G | CA412611704 | ARX | c.1119+1G>C (n.1119+1G>C)
| |
X | g.25010259C>T | CA412611705 | ARX | c.1119+1G>A (n.1119+1G>A)
| |
X | g.25010260C>A | CA412611707 | ARX | c.1119G>T (p.Gln373His)
| |
X | g.25010260C>G | CA412611708 | ARX | c.1119G>C (p.Gln373His)
| |
X | g.25010260C>T | CA515748632 | ARX | c.1119G>A (p.Gln373=)
| |
X | g.25010261T>A | CA412611709 | ARX | c.1118A>T (p.Gln373Leu)
| |
X | g.25010261T>C | CA412611710 | ARX | c.1118A>G (p.Gln373Arg)
| |
X | g.25010261T>G | CA412611711 | ARX | c.1118A>C (p.Gln373Pro)
| |
X | g.25010262G>A | CA213169 | ARX | c.1117C>T (p.Gln373Ter)
| ClinVar dbSNP |
X | g.25010262G>C | CA412611713 | ARX | c.1117C>G (p.Gln373Glu)
| gnomAD v4 |
X | g.25010262G= | CA2420208032 | ARX | c.1117C= (p.Gln373=)
| |
X | g.25010262G>T | CA412611712 | ARX | c.1117C>A (p.Gln373Lys)
| dbSNP |
X | g.25010263G>A | CA515748642 | ARX | c.1116C>T (p.Val372=)
| |
X | g.25010263G>C | CA515748639 | ARX | c.1116C>G (p.Val372=)
| |
X | g.25010263G= | CA2420208033 | ARX | c.1116C= (p.Val372=)
| |
X | g.25010263G>T | CA515748640 | ARX | c.1116C>A (p.Val372=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010264A>C | CA412611714 | ARX | c.1115T>G (p.Val372Gly)
| |
X | g.25010264A>G | CA412611715 | ARX | c.1115T>C (p.Val372Ala)
| |
X | g.25010264A>T | CA412611716 | ARX | c.1115T>A (p.Val372Asp)
| |
X | g.25010265C>A | CA412611717 | ARX | c.1114G>T (p.Val372Phe)
| |
X | g.25010265C>G | CA412611718 | ARX | c.1114G>C (p.Val372Leu)
| |
X | g.25010265C>T | CA412611719 | ARX | c.1114G>A (p.Val372Ile)
| |
X | g.25010266T>A | CA515748649 | ARX | c.1113A>T (p.Arg371=)
| |
X | g.25010266T>C | CA515748651 | ARX | c.1113A>G (p.Arg371=)
| |
X | g.25010266T>G | CA515748653 | ARX | c.1113A>C (p.Arg371=)
| |
X | g.25010267C>A | CA412611720 | ARX | c.1112G>T (p.Arg371Leu)
| |
X | g.25010267C>G | CA412611721 | ARX | c.1112G>C (p.Arg371Pro)
| |
X | g.25010267C>T | CA412611722 | ARX | c.1112G>A (p.Arg371Gln)
| ClinVar dbSNP |
X | g.25010268G>A | CA233280 | ARX | c.1111C>T (p.Arg371Ter)
| ClinVar dbSNP gnomAD v2 |
X | g.25010268G>C | CA412611723 | ARX | c.1111C>G (p.Arg371Gly)
| |
X | g.25010268G= | CA2420208034 | ARX | c.1111C= (p.Arg371=)
| |
X | g.25010268G>T | CA515748657 | ARX | c.1111C>A (p.Arg371=)
| COSMIC |
X | g.25010270del | CA2580100526 | ARX | c.1111del (p.Arg371GlufsTer?)
| ClinVar |
X | g.25010269G>A | CA515748662 | ARX | c.1110C>T (p.Ala370=)
| |
X | g.25010269G>C | CA515748661 | ARX | c.1110C>G (p.Ala370=)
| |
X | g.25010269G>T | CA515748664 | ARX | c.1110C>A (p.Ala370=)
| |
X | g.25010270G>A | CA412611724 | ARX | c.1109C>T (p.Ala370Val)
| gnomAD v4 |
X | g.25010270G>C | CA412611726 | ARX | c.1109C>G (p.Ala370Gly)
| |
X | g.25010270G>T | CA412611725 | ARX | c.1109C>A (p.Ala370Asp)
| |
X | g.25010271C>A | CA412611727 | ARX | c.1108G>T (p.Ala370Ser)
| |
X | g.25010271C>G | CA412611729 | ARX | c.1108G>C (p.Ala370Pro)
| |
X | g.25010271C>T | CA412611728 | ARX | c.1108G>A (p.Ala370Thr)
| |
X | g.25010272C>A | CA412611730 | ARX | c.1107G>T (p.Glu369Asp)
| |
X | g.25010272C= | CA2420208035 | ARX | c.1107G= (p.Glu369=)
| |
X | g.25010272C>G | CA412611731 | ARX | c.1107G>C (p.Glu369Asp)
| |
X | g.25010272C>T | CA10373837 | ARX | c.1107G>A (p.Glu369=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25010273T>A | CA412611732 | ARX | c.1106A>T (p.Glu369Val)
| |
X | g.25010273T>C | CA412611733 | ARX | c.1106A>G (p.Glu369Gly)
| |
X | g.25010273T>G | CA412611734 | ARX | c.1106A>C (p.Glu369Ala)
| |
X | g.25010274C>A | CA121412 | ARX | c.1105G>T (p.Glu369Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25010274C= | CA2420208036 | ARX | c.1105G= (p.Glu369=)
| |
X | g.25010274C>G | CA412611735 | ARX | c.1105G>C (p.Glu369Gln)
| |
X | g.25010274C>T | CA16608407 | ARX | c.1105G>A (p.Glu369Lys)
| ClinVar dbSNP |
X | g.25010275G>A | CA10373838 | ARX | c.1104C>T (p.Thr368=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010275G>C | CA515748679 | ARX | c.1104C>G (p.Thr368=)
| |
X | g.25010275G= | CA2420208037 | ARX | c.1104C= (p.Thr368=)
| |
X | g.25010275G>T | CA515748677 | ARX | c.1104C>A (p.Thr368=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25010276G>A | CA412611736 | ARX | c.1103C>T (p.Thr368Ile)
| |
X | g.25010276G>C | CA412611737 | ARX | c.1103C>G (p.Thr368Ser)
| |
X | g.25010276G>T | CA412611738 | ARX | c.1103C>A (p.Thr368Asn)
| |
X | g.25010277T>A | CA412611739 | ARX | c.1102A>T (p.Thr368Ser)
| |
X | g.25010277T>C | CA412611741 | ARX | c.1102A>G (p.Thr368Ala)
| |
X | g.25010277T>G | CA412611740 | ARX | c.1102A>C (p.Thr368Pro)
| |
X | g.25010278C>A | CA412611742 | ARX | c.1101G>T (p.Leu367Phe)
| |
X | g.25010278C>G | CA412611743 | ARX | c.1101G>C (p.Leu367Phe)
| |
X | g.25010278C>T | CA515748685 | ARX | c.1101G>A (p.Leu367=)
| |
X | g.25010279A>C | CA412611744 | ARX | c.1100T>G (p.Leu367Trp)
| |
X | g.25010279A>G | CA412611745 | ARX | c.1100T>C (p.Leu367Ser)
| |
X | g.25010279A>T | CA412611746 | ARX | c.1100T>A (p.Leu367Ter)
| |
X | g.25010280A>C | CA412611747 | ARX | c.1099T>G (p.Leu367Val)
| |
X | g.25010280A>G | CA515748689 | ARX | c.1099T>C (p.Leu367=)
| |
X | g.25010280A>T | CA412611748 | ARX | c.1099T>A (p.Leu367Met)
| |
X | g.25010281G>A | CA515748691 | ARX | c.1098C>T (p.Asp366=)
| gnomAD v4 |
X | g.25010281G>C | CA412611749 | ARX | c.1098C>G (p.Asp366Glu)
| |
X | g.25010281G>T | CA412611750 | ARX | c.1098C>A (p.Asp366Glu)
| |
X | g.25010282T>A | CA412611753 | ARX | c.1097A>T (p.Asp366Val)
| |
X | g.25010282T>C | CA412611752 | ARX | c.1097A>G (p.Asp366Gly)
| |
X | g.25010282T>G | CA412611751 | ARX | c.1097A>C (p.Asp366Ala)
| |
X | g.25010282_25010283delinsTC | CA2420208038 | ARX | c.1096_1097delinsGA (p.Asp366=)
| |
X | g.25010283C>A | CA412611754 | ARX | c.1096G>T (p.Asp366Tyr)
| |
X | g.25010283C>G | CA412611755 | ARX | c.1096G>C (p.Asp366His)
| |
X | g.25010283C>T | CA412611756 | ARX | c.1096G>A (p.Asp366Asn)
| |
X | g.25010284del | CA213326 | ARX | c.1096del (p.Asp366ThrfsTer2)
| ClinVar dbSNP |
X | g.25010284C>A | CA515748698 | ARX | c.1095G>T (p.Leu365=)
| ClinVar gnomAD v4 |
X | g.25010284C>G | CA515748702 | ARX | c.1095G>C (p.Leu365=)
| ClinVar |
X | g.25010284C>T | CA515748700 | ARX | c.1095G>A (p.Leu365=)
| |
X | g.25010285A>C | CA412611757 | ARX | c.1094T>G (p.Leu365Arg)
| |
X | g.25010285A>G | CA412611758 | ARX | c.1094T>C (p.Leu365Pro)
| |
X | g.25010285A>T | CA412611759 | ARX | c.1094T>A (p.Leu365Gln)
| |
X | g.25010286G>A | CA515748705 | ARX | c.1093C>T (p.Leu365=)
| dbSNP |
X | g.25010286G>C | CA412611760 | ARX | c.1093C>G (p.Leu365Val)
| |
X | g.25010286G= | CA2420208039 | ARX | c.1093C= (p.Leu365=)
| |
X | g.25010286G>T | CA412611761 | ARX | c.1093C>A (p.Leu365Met)
| COSMIC |
X | g.25010287C>A | CA412611762 | ARX | c.1092G>T (p.Arg364Ser)
| |
X | g.25010287C>G | CA412611763 | ARX | c.1092G>C (p.Arg364Ser)
| |
X | g.25010287C>T | CA515748709 | ARX | c.1092G>A (p.Arg364=)
| |
X | g.25010288C>A | CA412611764 | ARX | c.1091G>T (p.Arg364Met)
| |
X | g.25010288C>G | CA412611765 | ARX | c.1091G>C (p.Arg364Thr)
| |
X | g.25010288C>T | CA412611766 | ARX | c.1091G>A (p.Arg364Lys)
| |
X | g.25010289T>A | CA412611767 | ARX | c.1090A>T (p.Arg364Trp)
| COSMIC |
X | g.25010289T>C | CA412611768 | ARX | c.1090A>G (p.Arg364Gly)
| |
X | g.25010289T>G | CA515748712 | ARX | c.1090A>C (p.Arg364=)
| |
X | g.25010290C>A | CA412611769 | ARX | c.1089G>T (p.Met363Ile)
| gnomAD v4 |
X | g.25010290C>G | CA412611770 | ARX | c.1089G>C (p.Met363Ile)
| |
X | g.25010290C>T | CA412611771 | ARX | c.1089G>A (p.Met363Ile)
| |
X | g.25010291A= | CA2420208040 | ARX | c.1088T= (p.Met363=)
| |
X | g.25010291A>C | CA412611772 | ARX | c.1088T>G (p.Met363Arg)
| |
X | g.25010291A>G | CA327732824 | ARX | c.1088T>C (p.Met363Thr)
| dbSNP |
X | g.25010291A>T | CA412611773 | ARX | c.1088T>A (p.Met363Lys)
| |
X | g.25010292T>A | CA412611774 | ARX | c.1087A>T (p.Met363Leu)
| |
X | g.25010292T>C | CA10373839 | ARX | c.1087A>G (p.Met363Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.25010292T>G | CA412611775 | ARX | c.1087A>C (p.Met363Leu)
| gnomAD v4 |
X | g.25010292T= | CA2420208041 | ARX | c.1087A= (p.Met363=)
| |
X | g.25010293G>A | CA515748720 | ARX | c.1086C>T (p.Ala362=)
| |
X | g.25010293G>C | CA515748722 | ARX | c.1086C>G (p.Ala362=)
| |
X | g.25010293G>T | CA515748724 | ARX | c.1086C>A (p.Ala362=)
| |
X | g.25010294G>A | CA412611776 | ARX | c.1085C>T (p.Ala362Val)
| |
X | g.25010294G>C | CA412611777 | ARX | c.1085C>G (p.Ala362Gly)
| |
X | g.25010294G>T | CA412611778 | ARX | c.1085C>A (p.Ala362Asp)
| |