Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1399730_1399880del | CA2695223157 | GAMT | c.242_327+65del c.173_258+65del | |
19 | g.1399742_1399759del | CA2508541639 | GAMT | c.327+38_327+55del (n.327+38_327+55del) c.10+38_10+55del c.258+38_258+55del (n.258+38_258+55del) c.12+38_12+55del (n.12+38_12+55del) | |
19 | g.1399747A= | CA2317699458 | GAMT | c.327+46T= (n.327+46T=) c.10+46T= n.1T= c.258+46T= (n.258+46T=) c.12+46T= (n.12+46T=) | |
19 | g.1399747A>C | CA783506922 | GAMT | c.327+46T>G (n.327+46T>G) c.10+46T>G n.1T>G c.258+46T>G (n.258+46T>G) c.12+46T>G (n.12+46T>G) | dbSNP |
19 | g.1399747A>G | CA2582641440 | GAMT | c.327+46T>C (n.327+46T>C) c.10+46T>C n.1T>C c.258+46T>C (n.258+46T>C) c.12+46T>C (n.12+46T>C) | gnomAD v4 |
19 | g.1399751del | CA2576548729 | GAMT | c.327+45del (n.327+45del) c.10+45del c.258+45del (n.258+45del) c.12+45del (n.12+45del) | |
19 | g.1399749C= | CA2317699459 | GAMT | c.327+44G= (n.327+44G=) c.10+44G= c.258+44G= (n.258+44G=) c.12+44G= (n.12+44G=) | |
19 | g.1399749C>T | CA992511481 | GAMT | c.327+44G>A (n.327+44G>A) c.10+44G>A c.258+44G>A (n.258+44G>A) c.12+44G>A (n.12+44G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399750C>A | CA2840515366 | GAMT | c.327+43G>T (n.327+43G>T) c.10+43G>T c.258+43G>T (n.258+43G>T) c.12+43G>T (n.12+43G>T) | |
19 | g.1399750C= | CA2317699460 | GAMT | c.327+43G= (n.327+43G=) c.10+43G= c.258+43G= (n.258+43G=) c.12+43G= (n.12+43G=) | |
19 | g.1399750C>T | CA631044777 | GAMT | c.327+43G>A (n.327+43G>A) c.10+43G>A c.258+43G>A (n.258+43G>A) c.12+43G>A (n.12+43G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399751C>A | CA2582641441 | GAMT | c.327+42G>T (n.327+42G>T) c.10+42G>T c.258+42G>T (n.258+42G>T) c.12+42G>T (n.12+42G>T) | gnomAD v4 |
19 | g.1399751C= | CA2317699461 | GAMT | c.327+42G= (n.327+42G=) c.10+42G= c.258+42G= (n.258+42G=) c.12+42G= (n.12+42G=) | |
19 | g.1399751C>T | CA631044778 | GAMT | c.327+42G>A (n.327+42G>A) c.10+42G>A c.258+42G>A (n.258+42G>A) c.12+42G>A (n.12+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399752A>C | CA2735458867 | GAMT | c.327+41T>G (n.327+41T>G) c.10+41T>G c.258+41T>G (n.258+41T>G) c.12+41T>G (n.12+41T>G) | dbSNP |
19 | g.1399754G>A | CA631044779 | GAMT | c.327+39C>T (n.327+39C>T) c.10+39C>T c.258+39C>T (n.258+39C>T) c.12+39C>T (n.12+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399754G= | CA2317699462 | GAMT | c.327+39C= (n.327+39C=) c.10+39C= c.258+39C= (n.258+39C=) c.12+39C= (n.12+39C=) | |
19 | g.1399754G>T | CA2582641442 | GAMT | c.327+39C>A (n.327+39C>A) c.10+39C>A c.258+39C>A (n.258+39C>A) c.12+39C>A (n.12+39C>A) | gnomAD v4 |
19 | g.1399755G>A | CA2582641443 | GAMT | c.327+38C>T (n.327+38C>T) c.10+38C>T c.258+38C>T (n.258+38C>T) c.12+38C>T (n.12+38C>T) | gnomAD v4 |
19 | g.1399755G>C | CA631044780 | GAMT | c.327+38C>G (n.327+38C>G) c.10+38C>G c.258+38C>G (n.258+38C>G) c.12+38C>G (n.12+38C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399755G= | CA2317699463 | GAMT | c.327+38C= (n.327+38C=) c.10+38C= c.258+38C= (n.258+38C=) c.12+38C= (n.12+38C=) | |
19 | g.1399755G>T | CA2838200154 | GAMT | c.327+38C>A (n.327+38C>A) c.10+38C>A c.258+38C>A (n.258+38C>A) c.12+38C>A (n.12+38C>A) | |
19 | g.1399756A>C | CA2840515367 | GAMT | c.327+37T>G (n.327+37T>G) c.10+37T>G c.258+37T>G (n.258+37T>G) c.12+37T>G (n.12+37T>G) | |
19 | g.1399757G>A | CA9043733 | GAMT | c.327+36C>T (n.327+36C>T) c.10+36C>T c.258+36C>T (n.258+36C>T) c.12+36C>T (n.12+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399757G>C | CA2582641444 | GAMT | c.327+36C>G (n.327+36C>G) c.10+36C>G c.258+36C>G (n.258+36C>G) c.12+36C>G (n.12+36C>G) | gnomAD v4 |
19 | g.1399757G= | CA2317699464 | GAMT | c.327+36C= (n.327+36C=) c.10+36C= c.258+36C= (n.258+36C=) c.12+36C= (n.12+36C=) | |
19 | g.1399757G>T | CA2582641445 | GAMT | c.327+36C>A (n.327+36C>A) c.10+36C>A c.258+36C>A (n.258+36C>A) c.12+36C>A (n.12+36C>A) | gnomAD v4 |
19 | g.1399758del | CA2840515368 | GAMT | c.327+35del (n.327+35del) c.10+35del c.258+35del (n.258+35del) c.12+35del (n.12+35del) | |
19 | g.1399758T>C | CA2582641446 | GAMT | c.327+35A>G (n.327+35A>G) c.10+35A>G c.258+35A>G (n.258+35A>G) c.12+35A>G (n.12+35A>G) | gnomAD v4 |
19 | g.1399758T= | CA2317699465 | GAMT | c.327+35A= (n.327+35A=) c.10+35A= c.258+35A= (n.258+35A=) c.12+35A= (n.12+35A=) | |
19 | g.1399759G>A | CA9043734 | GAMT | c.327+34C>T (n.327+34C>T) c.10+34C>T c.258+34C>T (n.258+34C>T) c.12+34C>T (n.12+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399759G= | CA2317699467 | GAMT | c.327+34C= (n.327+34C=) c.10+34C= c.258+34C= (n.258+34C=) c.12+34C= (n.12+34C=) | |
19 | g.1399759G>T | CA2576548730 | GAMT | c.327+34C>A (n.327+34C>A) c.10+34C>A c.258+34C>A (n.258+34C>A) c.12+34C>A (n.12+34C>A) | gnomAD v4 |
19 | g.1399763dup | CA2317699466 | GAMT | c.327+34dup (n.327+34dup) c.10+34dup c.258+34dup (n.258+34dup) c.12+34dup (n.12+34dup) | dbSNP |
19 | g.1399760G>A | CA2317699469 | GAMT | c.327+33C>T (n.327+33C>T) c.10+33C>T c.258+33C>T (n.258+33C>T) c.12+33C>T (n.12+33C>T) | dbSNP gnomAD v4 |
19 | g.1399760G>C | CA631044781 | GAMT | c.327+33C>G (n.327+33C>G) c.10+33C>G c.258+33C>G (n.258+33C>G) c.12+33C>G (n.12+33C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399760G= | CA2317699468 | GAMT | c.327+33C= (n.327+33C=) c.10+33C= c.258+33C= (n.258+33C=) c.12+33C= (n.12+33C=) | |
19 | g.1399760G>T | CA2582641448 | GAMT | c.327+33C>A (n.327+33C>A) c.10+33C>A c.258+33C>A (n.258+33C>A) c.12+33C>A (n.12+33C>A) | gnomAD v4 |
19 | g.1399760_1399764del | CA2582641447 | GAMT | c.327+29_327+33del (n.327+29_327+33del) c.10+29_10+33del c.258+29_258+33del (n.258+29_258+33del) c.12+29_12+33del (n.12+29_12+33del) | gnomAD v4 |
19 | g.1399760_1399761insCCA | CA2582641449 | GAMT | c.327+32_327+33insTGG (n.327+32_327+33insTGG) c.10+32_10+33insTGG c.258+32_258+33insTGG (n.258+32_258+33insTGG) c.12+32_12+33insTGG (n.12+32_12+33insTGG) | gnomAD v4 |
19 | g.1399761G= | CA2317699470 | GAMT | c.327+32C= (n.327+32C=) c.10+32C= c.258+32C= (n.258+32C=) c.12+32C= (n.12+32C=) | |
19 | g.1399761G>T | CA9043735 | GAMT | c.327+32C>A (n.327+32C>A) c.10+32C>A c.258+32C>A (n.258+32C>A) c.12+32C>A (n.12+32C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399762G>A | CA304066548 | GAMT | c.327+31C>T (n.327+31C>T) c.10+31C>T c.258+31C>T (n.258+31C>T) c.12+31C>T (n.12+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399762G= | CA2317699471 | GAMT | c.327+31C= (n.327+31C=) c.10+31C= c.258+31C= (n.258+31C=) c.12+31C= (n.12+31C=) | |
19 | g.1399762G>T | CA2582641450 | GAMT | c.327+31C>A (n.327+31C>A) c.10+31C>A c.258+31C>A (n.258+31C>A) c.12+31C>A (n.12+31C>A) | gnomAD v4 |
19 | g.1399763G>T | CA2582641451 | GAMT | c.327+30C>A (n.327+30C>A) c.10+30C>A c.258+30C>A (n.258+30C>A) c.12+30C>A (n.12+30C>A) | gnomAD v4 |
19 | g.1399764T>C | CA2582641452 | GAMT | c.327+29A>G (n.327+29A>G) c.10+29A>G c.258+29A>G (n.258+29A>G) c.12+29A>G (n.12+29A>G) | gnomAD v4 |
19 | g.1399765C>A | CA2840515369 | GAMT | c.327+28G>T (n.327+28G>T) c.10+28G>T c.258+28G>T (n.258+28G>T) c.12+28G>T (n.12+28G>T) | |
19 | g.1399765C>T | CA2582641453 | GAMT | c.327+28G>A (n.327+28G>A) c.10+28G>A c.258+28G>A (n.258+28G>A) c.12+28G>A (n.12+28G>A) | gnomAD v4 |
19 | g.1399765_1399766insAGG | CA2813256042 | GAMT | c.327+27_327+28insCCT (n.327+27_327+28insCCT) c.10+27_10+28insCCT c.258+27_258+28insCCT (n.258+27_258+28insCCT) c.12+27_12+28insCCT (n.12+27_12+28insCCT) | |
19 | g.1399766C>A | CA2582641454 | GAMT | c.327+27G>T (n.327+27G>T) c.10+27G>T c.258+27G>T (n.258+27G>T) c.12+27G>T (n.12+27G>T) | gnomAD v4 |
19 | g.1399766C= | CA2317699472 | GAMT | c.327+27G= (n.327+27G=) c.10+27G= c.258+27G= (n.258+27G=) c.12+27G= (n.12+27G=) | |
19 | g.1399766C>T | CA992511484 | GAMT | c.327+27G>A (n.327+27G>A) c.10+27G>A c.258+27G>A (n.258+27G>A) c.12+27G>A (n.12+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399767_1399774del | CA2582641455 | GAMT | c.327+20_327+27del (n.327+20_327+27del) c.10+20_10+27del c.258+20_258+27del (n.258+20_258+27del) c.12+20_12+27del (n.12+20_12+27del) | gnomAD v4 |
19 | g.1399767T>A | CA2582641456 | GAMT | c.327+26A>T (n.327+26A>T) c.10+26A>T c.258+26A>T (n.258+26A>T) c.12+26A>T (n.12+26A>T) | gnomAD v4 |
19 | g.1399767T>C | CA2582641457 | GAMT | c.327+26A>G (n.327+26A>G) c.10+26A>G c.258+26A>G (n.258+26A>G) c.12+26A>G (n.12+26A>G) | gnomAD v4 |
19 | g.1399768G>C | CA2582641458 | GAMT | c.327+25C>G (n.327+25C>G) c.10+25C>G c.258+25C>G (n.258+25C>G) c.12+25C>G (n.12+25C>G) | gnomAD v4 |
19 | g.1399768G>T | CA2582641459 | GAMT | c.327+25C>A (n.327+25C>A) c.10+25C>A c.258+25C>A (n.258+25C>A) c.12+25C>A (n.12+25C>A) | gnomAD v4 |
19 | g.1399769G>A | CA304066549 | GAMT | c.327+24C>T (n.327+24C>T) c.10+24C>T c.258+24C>T (n.258+24C>T) c.12+24C>T (n.12+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399769G= | CA2317699473 | GAMT | c.327+24C= (n.327+24C=) c.10+24C= c.258+24C= (n.258+24C=) c.12+24C= (n.12+24C=) | |
19 | g.1399769G>T | CA2582641460 | GAMT | c.327+24C>A (n.327+24C>A) c.10+24C>A c.258+24C>A (n.258+24C>A) c.12+24C>A (n.12+24C>A) | gnomAD v4 |
19 | g.1399770A>G | CA2582641461 | GAMT | c.327+23T>C (n.327+23T>C) c.10+23T>C c.258+23T>C (n.258+23T>C) c.12+23T>C (n.12+23T>C) | gnomAD v4 |
19 | g.1399770A>T | CA2582641462 | GAMT | c.327+23T>A (n.327+23T>A) c.10+23T>A c.258+23T>A (n.258+23T>A) c.12+23T>A (n.12+23T>A) | gnomAD v4 |
19 | g.1399771G>A | CA2582641463 | GAMT | c.327+22C>T (n.327+22C>T) c.10+22C>T c.258+22C>T (n.258+22C>T) c.12+22C>T (n.12+22C>T) | gnomAD v4 |
19 | g.1399771G>T | CA2582641464 | GAMT | c.327+22C>A (n.327+22C>A) c.10+22C>A c.258+22C>A (n.258+22C>A) c.12+22C>A (n.12+22C>A) | gnomAD v4 |
19 | g.1399772_1399773insTGGGG | CA2582641465 | GAMT | c.327+22_327+23insCCACC (n.327+22_327+23insCCACC) c.10+22_10+23insCCACC c.258+22_258+23insCCACC (n.258+22_258+23insCCACC) c.12+22_12+23insCCACC (n.12+22_12+23insCCACC) | gnomAD v4 |
19 | g.1399772G>A | CA2576548731 | GAMT | c.327+21C>T (n.327+21C>T) c.10+21C>T c.258+21C>T (n.258+21C>T) c.12+21C>T (n.12+21C>T) | gnomAD v4 |
19 | g.1399772G>C | CA2840515370 | GAMT | c.327+21C>G (n.327+21C>G) c.10+21C>G c.258+21C>G (n.258+21C>G) c.12+21C>G (n.12+21C>G) | |
19 | g.1399772G>T | CA2582641466 | GAMT | c.327+21C>A (n.327+21C>A) c.10+21C>A c.258+21C>A (n.258+21C>A) c.12+21C>A (n.12+21C>A) | gnomAD v4 |
19 | g.1399773G>A | CA631044782 | GAMT | c.327+20C>T (n.327+20C>T) c.10+20C>T c.258+20C>T (n.258+20C>T) c.12+20C>T (n.12+20C>T) | dbSNP gnomAD v2 |
19 | g.1399773G>C | CA2735360011 | GAMT | c.327+20C>G (n.327+20C>G) c.10+20C>G c.258+20C>G (n.258+20C>G) c.12+20C>G (n.12+20C>G) | dbSNP |
19 | g.1399773G= | CA2317699474 | GAMT | c.327+20C= (n.327+20C=) c.10+20C= c.258+20C= (n.258+20C=) c.12+20C= (n.12+20C=) | |
19 | g.1399773G>T | CA992511485 | GAMT | c.327+20C>A (n.327+20C>A) c.10+20C>A c.258+20C>A (n.258+20C>A) c.12+20C>A (n.12+20C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399774C>A | CA2582641469 | GAMT | c.327+19G>T (n.327+19G>T) c.10+19G>T c.258+19G>T (n.258+19G>T) c.12+19G>T (n.12+19G>T) | ClinVar gnomAD v4 |
19 | g.1399774C= | CA2317699475 | GAMT | c.327+19G= (n.327+19G=) c.10+19G= c.258+19G= (n.258+19G=) c.12+19G= (n.12+19G=) | |
19 | g.1399774C>G | CA2582641468 | GAMT | c.327+19G>C (n.327+19G>C) c.10+19G>C c.258+19G>C (n.258+19G>C) c.12+19G>C (n.12+19G>C) | gnomAD v4 |
19 | g.1399774C>T | CA9043736 | GAMT | c.327+19G>A (n.327+19G>A) c.10+19G>A c.258+19G>A (n.258+19G>A) c.12+19G>A (n.12+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399774_1399775del | CA2582641467 | GAMT | c.327+18_327+19del (n.327+18_327+19del) c.10+18_10+19del c.258+18_258+19del (n.258+18_258+19del) c.12+18_12+19del (n.12+18_12+19del) | gnomAD v4 |
19 | g.1399775C>A | CA2582641470 | GAMT | c.327+18G>T (n.327+18G>T) c.10+18G>T c.258+18G>T (n.258+18G>T) c.12+18G>T (n.12+18G>T) | gnomAD v4 |
19 | g.1399775C>T | CA2582641471 | GAMT | c.327+18G>A (n.327+18G>A) c.10+18G>A c.258+18G>A (n.258+18G>A) c.12+18G>A (n.12+18G>A) | ClinVar gnomAD v4 |
19 | g.1399776T>A | CA2582641472 | GAMT | c.327+17A>T (n.327+17A>T) c.10+17A>T c.258+17A>T (n.258+17A>T) c.12+17A>T (n.12+17A>T) | gnomAD v4 |
19 | g.1399776T>C | CA783506927 | GAMT | c.327+17A>G (n.327+17A>G) c.10+17A>G c.258+17A>G (n.258+17A>G) c.12+17A>G (n.12+17A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399776T= | CA2317699476 | GAMT | c.327+17A= (n.327+17A=) c.10+17A= c.258+17A= (n.258+17A=) c.12+17A= (n.12+17A=) | |
19 | g.1399777G>A | CA658799098 | GAMT | c.327+16C>T (n.327+16C>T) c.10+16C>T c.258+16C>T (n.258+16C>T) c.12+16C>T (n.12+16C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.1399777G>C | CA304066550 | GAMT | c.327+16C>G (n.327+16C>G) c.10+16C>G c.258+16C>G (n.258+16C>G) c.12+16C>G (n.12+16C>G) | dbSNP |
19 | g.1399777G= | CA2317699477 | GAMT | c.327+16C= (n.327+16C=) c.10+16C= c.258+16C= (n.258+16C=) c.12+16C= (n.12+16C=) | |
19 | g.1399777_1399781del | CA2582641473 | GAMT | c.327+12_327+16del (n.327+12_327+16del) c.10+12_10+16del c.258+12_258+16del (n.258+12_258+16del) c.12+12_12+16del (n.12+12_12+16del) | gnomAD v4 |
19 | g.1399778C>A | CA2576548732 | GAMT | c.327+15G>T (n.327+15G>T) c.10+15G>T c.258+15G>T (n.258+15G>T) c.12+15G>T (n.12+15G>T) | ClinVar gnomAD v4 |
19 | g.1399778C= | CA2317699479 | GAMT | c.327+15G= (n.327+15G=) c.10+15G= c.258+15G= (n.258+15G=) c.12+15G= (n.12+15G=) | |
19 | g.1399778C>G | CA2740091846 | GAMT | c.327+15G>C (n.327+15G>C) c.10+15G>C c.258+15G>C (n.258+15G>C) c.12+15G>C (n.12+15G>C) | ClinVar |
19 | g.1399778C>T | CA631044783 | GAMT | c.327+15G>A (n.327+15G>A) c.10+15G>A c.258+15G>A (n.258+15G>A) c.12+15G>A (n.12+15G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399778_1399779delinsCG | CA2317699478 | GAMT | c.327+14_327+15delinsCG (n.327+14_327+15delinsCG) c.10+14_10+15delinsCG c.258+14_258+15delinsCG (n.258+14_258+15delinsCG) c.12+14_12+15delinsCG (n.12+14_12+15delinsCG) | |
19 | g.1399779G>A | CA304066553 | GAMT | c.327+14C>T (n.327+14C>T) c.10+14C>T c.258+14C>T (n.258+14C>T) c.12+14C>T (n.12+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399779G= | CA2317699480 | GAMT | c.327+14C= (n.327+14C=) c.10+14C= c.258+14C= (n.258+14C=) c.12+14C= (n.12+14C=) | |
19 | g.1399779G>T | CA2582641474 | GAMT | c.327+14C>A (n.327+14C>A) c.10+14C>A c.258+14C>A (n.258+14C>A) c.12+14C>A (n.12+14C>A) | gnomAD v4 |
19 | g.1399781del | CA304066551 | GAMT | c.327+14del (n.327+14del) c.10+14del c.258+14del (n.258+14del) c.12+14del (n.12+14del) | dbSNP |
19 | g.1399780G>T | CA2576548733 | GAMT | c.327+13C>A (n.327+13C>A) c.10+13C>A c.258+13C>A (n.258+13C>A) c.12+13C>A (n.12+13C>A) | gnomAD v4 |
19 | g.1399781G>A | CA304066555 | GAMT | c.327+12C>T (n.327+12C>T) c.10+12C>T c.258+12C>T (n.258+12C>T) c.12+12C>T (n.12+12C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399781G= | CA2317699481 | GAMT | c.327+12C= (n.327+12C=) c.10+12C= c.258+12C= (n.258+12C=) c.12+12C= (n.12+12C=) | |
19 | g.1399781G>T | CA2582641475 | GAMT | c.327+12C>A (n.327+12C>A) c.10+12C>A c.258+12C>A (n.258+12C>A) c.12+12C>A (n.12+12C>A) | gnomAD v4 |
19 | g.1399782C>A | CA2582641476 | GAMT | c.327+11G>T (n.327+11G>T) c.10+11G>T c.258+11G>T (n.258+11G>T) c.12+11G>T (n.12+11G>T) | gnomAD v4 |
19 | g.1399782C= | CA2317699482 | GAMT | c.327+11G= (n.327+11G=) c.10+11G= c.258+11G= (n.258+11G=) c.12+11G= (n.12+11G=) | |
19 | g.1399782C>T | CA2317699483 | GAMT | c.327+11G>A (n.327+11G>A) c.10+11G>A c.258+11G>A (n.258+11G>A) c.12+11G>A (n.12+11G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.1399783A>G | CA2582641477 | GAMT | c.327+10T>C (n.327+10T>C) c.10+10T>C c.258+10T>C (n.258+10T>C) c.12+10T>C (n.12+10T>C) | gnomAD v4 |
19 | g.1399783_1399784insCAC | CA2582641478 | GAMT | c.327+9_327+10insGTG (n.327+9_327+10insGTG) c.10+9_10+10insGTG c.258+9_258+10insGTG (n.258+9_258+10insGTG) c.12+9_12+10insGTG (n.12+9_12+10insGTG) | gnomAD v4 |
19 | g.1399784G>A | CA2580096074 | GAMT | c.327+9C>T (n.327+9C>T) c.10+9C>T c.258+9C>T (n.258+9C>T) c.12+9C>T (n.12+9C>T) | ClinVar gnomAD v4 |
19 | g.1399784G>T | CA2582641479 | GAMT | c.327+9C>A (n.327+9C>A) c.10+9C>A c.258+9C>A (n.258+9C>A) c.12+9C>A (n.12+9C>A) | gnomAD v4 |
19 | g.1399785A>G | CA2582641480 | GAMT | c.327+8T>C (n.327+8T>C) c.10+8T>C c.258+8T>C (n.258+8T>C) c.12+8T>C (n.12+8T>C) | gnomAD v4 |
19 | g.1399786G>A | CA2317699485 | GAMT | c.327+7C>T (n.327+7C>T) c.10+7C>T c.258+7C>T (n.258+7C>T) c.12+7C>T (n.12+7C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.1399786G= | CA2317699484 | GAMT | c.327+7C= (n.327+7C=) c.10+7C= c.258+7C= (n.258+7C=) c.12+7C= (n.12+7C=) | |
19 | g.1399786G>T | CA2582641482 | GAMT | c.327+7C>A (n.327+7C>A) c.10+7C>A c.258+7C>A (n.258+7C>A) c.12+7C>A (n.12+7C>A) | gnomAD v4 |
19 | g.1399789del | CA2582641481 | GAMT | c.327+7del (n.327+7del) c.10+7del c.258+7del (n.258+7del) c.12+7del (n.12+7del) | gnomAD v4 |
19 | g.1399787G>A | CA9043737 | GAMT | c.327+6C>T (n.327+6C>T) c.10+6C>T c.258+6C>T (n.258+6C>T) c.12+6C>T (n.12+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399787G>C | CA2840515371 | GAMT | c.327+6C>G (n.327+6C>G) c.10+6C>G c.258+6C>G (n.258+6C>G) c.12+6C>G (n.12+6C>G) | |
19 | g.1399787G= | CA2317699487 | GAMT | c.327+6C= (n.327+6C=) c.10+6C= c.258+6C= (n.258+6C=) c.12+6C= (n.12+6C=) | |
19 | g.1399787G>T | CA2582641483 | GAMT | c.327+6C>A (n.327+6C>A) c.10+6C>A c.258+6C>A (n.258+6C>A) c.12+6C>A (n.12+6C>A) | gnomAD v4 |
19 | g.1399787_1399788insCG | CA2317699486 | GAMT | c.327+6_327+7insGC (n.327+6_327+7insGC) c.10+6_10+7insGC c.258+6_258+7insGC (n.258+6_258+7insGC) c.12+6_12+7insGC (n.12+6_12+7insGC) | dbSNP |
19 | g.1399788G>A | CA631044784 | GAMT | c.327+5C>T (n.327+5C>T) c.10+5C>T c.258+5C>T (n.258+5C>T) c.12+5C>T (n.12+5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399788G= | CA2317699488 | GAMT | c.327+5C= (n.327+5C=) c.10+5C= c.258+5C= (n.258+5C=) c.12+5C= (n.12+5C=) | |
19 | g.1399788G>T | CA2582641484 | GAMT | c.327+5C>A (n.327+5C>A) c.10+5C>A c.258+5C>A (n.258+5C>A) c.12+5C>A (n.12+5C>A) | gnomAD v4 |
19 | g.1399789G>A | CA9043738 | GAMT | c.327+4C>T (n.327+4C>T) c.10+4C>T c.258+4C>T (n.258+4C>T) c.12+4C>T (n.12+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399789G>C | CA2582641485 | GAMT | c.327+4C>G (n.327+4C>G) c.10+4C>G c.258+4C>G (n.258+4C>G) c.12+4C>G (n.12+4C>G) | gnomAD v4 |
19 | g.1399789G= | CA2317699489 | GAMT | c.327+4C= (n.327+4C=) c.10+4C= c.258+4C= (n.258+4C=) c.12+4C= (n.12+4C=) | |
19 | g.1399789G>T | CA2582641486 | GAMT | c.327+4C>A (n.327+4C>A) c.10+4C>A c.258+4C>A (n.258+4C>A) c.12+4C>A (n.12+4C>A) | gnomAD v4 |
19 | g.1399790C>A | CA2582641487 | GAMT | c.327+3G>T (n.327+3G>T) c.10+3G>T c.258+3G>T (n.258+3G>T) c.12+3G>T (n.12+3G>T) | gnomAD v4 |
19 | g.1399790C= | CA2317699490 | GAMT | c.327+3G= (n.327+3G=) c.10+3G= c.258+3G= (n.258+3G=) c.12+3G= (n.12+3G=) | |
19 | g.1399790C>T | CA631044785 | GAMT | c.327+3G>A (n.327+3G>A) c.10+3G>A c.258+3G>A (n.258+3G>A) c.12+3G>A (n.12+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399791A= | CA2317699491 | GAMT | c.327+2T= (n.327+2T=) c.10+2T= c.258+2T= (n.258+2T=) c.12+2T= (n.12+2T=) | |
19 | g.1399791A>C | CA402995985 | GAMT | c.327+2T>G (n.327+2T>G) c.10+2T>G c.258+2T>G (n.258+2T>G) c.12+2T>G (n.12+2T>G) | ClinVar |
19 | g.1399791A>G | CA304066562 | GAMT | c.327+2T>C (n.327+2T>C) c.10+2T>C c.258+2T>C (n.258+2T>C) c.12+2T>C (n.12+2T>C) | dbSNP |
19 | g.1399791A>T | CA402995999 | GAMT | c.327+2T>A (n.327+2T>A) c.10+2T>A c.258+2T>A (n.258+2T>A) c.12+2T>A (n.12+2T>A) | gnomAD v4 |
19 | g.1399792C>A | CA402996005 | GAMT | c.327+1G>T (n.327+1G>T) c.10+1G>T c.258+1G>T (n.258+1G>T) c.12+1G>T (n.12+1G>T) | ClinVar dbSNP gnomAD v4 |
19 | g.1399792C>G | CA402996008 | GAMT | c.327+1G>C (n.327+1G>C) c.10+1G>C c.258+1G>C (n.258+1G>C) c.12+1G>C (n.12+1G>C) | |
19 | g.1399792C>T | CA402996012 | GAMT | c.327+1G>A (n.327+1G>A) c.10+1G>A c.258+1G>A (n.258+1G>A) c.12+1G>A (n.12+1G>A) | |
19 | g.1399793del | CA2582641488 | GAMT | c.327+1del c.10+1del c.258+1del c.12+1del | gnomAD v4 |
19 | g.1399793C>A | CA402996033 | GAMT | c.327G>T (p.Lys109Asn) c.10G>T c.258G>T (p.Lys86Asn) c.12G>T (p.Lys4Asn) | gnomAD v4 COSMIC |
19 | g.1399793C= | CA2317699492 | GAMT | c.327G= (p.Lys109=) c.10G= c.258G= (p.Lys86=) c.12G= (p.Lys4=) | |
19 | g.1399793C>G | CA402996030 | GAMT | c.327G>C (p.Lys109Asn) c.10G>C c.258G>C (p.Lys86Asn) c.12G>C (p.Lys4Asn) | |
19 | g.1399793C>T | CA314804 | GAMT | c.327G>A (p.Lys109=) c.10G>A c.258G>A (p.Lys86=) c.12G>A (p.Lys4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399794T>A | CA402996041 | GAMT | c.326A>T (p.Lys109Met) c.9A>T c.257A>T (p.Lys86Met) c.11A>T (p.Lys4Met) | gnomAD v4 |
19 | g.1399794T>C | CA402996037 | GAMT | c.326A>G (p.Lys109Arg) c.9A>G c.257A>G (p.Lys86Arg) c.11A>G (p.Lys4Arg) | gnomAD v4 |
19 | g.1399794T>G | CA402996040 | GAMT | c.326A>C (p.Lys109Thr) c.9A>C c.257A>C (p.Lys86Thr) c.11A>C (p.Lys4Thr) | gnomAD v4 |
19 | g.1399795T>A | CA304066568 | GAMT | c.325A>T (p.Lys109Ter) c.8A>T c.256A>T (p.Lys86Ter) c.10A>T (p.Lys4Ter) | dbSNP gnomAD v4 |
19 | g.1399795T>C | CA402996042 | GAMT | c.325A>G (p.Lys109Glu) c.8A>G c.256A>G (p.Lys86Glu) c.10A>G (p.Lys4Glu) | gnomAD v4 |
19 | g.1399795T>G | CA402996044 | GAMT | c.325A>C (p.Lys109Gln) c.8A>C c.256A>C (p.Lys86Gln) c.10A>C (p.Lys4Gln) | |
19 | g.1399795T= | CA2317699493 | GAMT | c.325A= (p.Lys109=) c.8A= c.256A= (p.Lys86=) c.10A= (p.Lys4=) | |
19 | g.1399800_1399801del | CA2580612588 | GAMT | c.324_325del (p.His108GlnfsTer18) c.7_8del c.255_256del (p.His85GlnfsTer18) c.9_10del (p.His3GlnfsTer18) | ClinVar dbSNP gnomAD v4 |
19 | g.1399796del | CA2695223158 | GAMT | c.324del (p.His108GlnfsTer6) c.7del c.255del (p.His85GlnfsTer6) c.9del (p.His3GlnfsTer6) | |
19 | g.1399796G>A | CA504730250 | GAMT | c.324C>T (p.His108=) c.7C>T c.255C>T (p.His85=) c.9C>T (p.His3=) | ClinVar gnomAD v4 |
19 | g.1399796G>C | CA402996053 | GAMT | c.324C>G (p.His108Gln) c.7C>G c.255C>G (p.His85Gln) c.9C>G (p.His3Gln) | |
19 | g.1399796G= | CA2317699494 | GAMT | c.324C= (p.His108=) c.7C= c.255C= (p.His85=) c.9C= (p.His3=) | |
19 | g.1399796G>T | CA402996056 | GAMT | c.324C>A (p.His108Gln) c.7C>A c.255C>A (p.His85Gln) c.9C>A (p.His3Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399797T>A | CA402996062 | GAMT | c.323A>T (p.His108Leu) c.6A>T c.254A>T (p.His85Leu) c.8A>T (p.His3Leu) | gnomAD v4 |
19 | g.1399797T>C | CA402996063 | GAMT | c.323A>G (p.His108Arg) c.6A>G c.254A>G (p.His85Arg) c.8A>G (p.His3Arg) | gnomAD v4 |
19 | g.1399797T>G | CA402996066 | GAMT | c.323A>C (p.His108Pro) c.6A>C c.254A>C (p.His85Pro) c.8A>C (p.His3Pro) | |
19 | g.1399798G>A | CA402996070 | GAMT | c.322C>T (p.His108Tyr) c.5C>T c.253C>T (p.His85Tyr) c.7C>T (p.His3Tyr) | gnomAD v4 |
19 | g.1399798G>C | CA402996071 | GAMT | c.322C>G (p.His108Asp) c.5C>G c.253C>G (p.His85Asp) c.7C>G (p.His3Asp) | |
19 | g.1399798G>T | CA402996076 | GAMT | c.322C>A (p.His108Asn) c.5C>A c.253C>A (p.His85Asn) c.7C>A (p.His3Asn) | gnomAD v4 |
19 | g.1399799T>A | CA504730251 | GAMT | c.321A>T (p.Thr107=) c.4A>T c.252A>T (p.Thr84=) c.6A>T (p.Thr2=) | |
19 | g.1399799T>C | CA504730252 | GAMT | c.321A>G (p.Thr107=) c.4A>G c.252A>G (p.Thr84=) c.6A>G (p.Thr2=) | ClinVar gnomAD v4 |
19 | g.1399799T>G | CA504730253 | GAMT | c.321A>C (p.Thr107=) c.4A>C c.252A>C (p.Thr84=) c.6A>C (p.Thr2=) | |
19 | g.1399800G>A | CA402996088 | GAMT | c.320C>T (p.Thr107Ile) c.3C>T c.251C>T (p.Thr84Ile) c.5C>T (p.Thr2Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399800G>C | CA402996078 | GAMT | c.320C>G (p.Thr107Arg) c.3C>G c.251C>G (p.Thr84Arg) c.5C>G (p.Thr2Arg) | |
19 | g.1399800G= | CA2317699495 | GAMT | c.320C= (p.Thr107=) c.3C= c.251C= (p.Thr84=) c.5C= (p.Thr2=) | |
19 | g.1399800G>T | CA304066570 | GAMT | c.320C>A (p.Thr107Lys) c.3C>A c.251C>A (p.Thr84Lys) c.5C>A (p.Thr2Lys) | dbSNP gnomAD v4 |
19 | g.1399801T>A | CA402996091 | GAMT | c.319A>T (p.Thr107Ser) c.2A>T c.250A>T (p.Thr84Ser) c.4A>T (p.Thr2Ser) | gnomAD v4 |
19 | g.1399801T>C | CA402996101 | GAMT | c.319A>G (p.Thr107Ala) c.2A>G c.250A>G (p.Thr84Ala) c.4A>G (p.Thr2Ala) | gnomAD v4 |
19 | g.1399801T>G | CA402996112 | GAMT | c.319A>C (p.Thr107Pro) c.2A>C c.250A>C (p.Thr84Pro) c.4A>C (p.Thr2Pro) | |
19 | g.1399802C>A | CA402996114 | GAMT | c.318G>T (p.Gln106His) c.1G>T c.249G>T (p.Gln83His) c.3G>T (p.Gln1His) | gnomAD v4 |
19 | g.1399802C>G | CA402996115 | GAMT | c.318G>C (p.Gln106His) c.1G>C c.249G>C (p.Gln83His) c.3G>C (p.Gln1His) | |
19 | g.1399802C>T | CA504730254 | GAMT | c.318G>A (p.Gln106=) c.1G>A c.249G>A (p.Gln83=) c.3G>A (p.Gln1=) | |
19 | g.1399803T>A | CA402996116 | GAMT | c.317A>T (p.Gln106Leu) c.248A>T (p.Gln83Leu) c.2A>T (p.Gln1Leu) | gnomAD v4 |
19 | g.1399803T>C | CA402996119 | GAMT | c.317A>G (p.Gln106Arg) c.248A>G (p.Gln83Arg) c.2A>G (p.Gln1Arg) | gnomAD v4 |
19 | g.1399803T>G | CA9043739 | GAMT | c.317A>C (p.Gln106Pro) c.248A>C (p.Gln83Pro) c.2A>C (p.Gln1Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399803T= | CA2317699496 | GAMT | c.317A= (p.Gln106=) c.248A= (p.Gln83=) c.2A= (p.Gln1=) | |
19 | g.1399804G>A | CA402996122 | GAMT | c.316C>T (p.Gln106Ter) c.247C>T (p.Gln83Ter) c.1C>T (p.Gln1Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399804G>C | CA402996123 | GAMT | c.316C>G (p.Gln106Glu) c.247C>G (p.Gln83Glu) c.1C>G (p.Gln1Glu) | gnomAD v4 |
19 | g.1399804G= | CA2317699497 | GAMT | c.316C= (p.Gln106=) c.247C= (p.Gln83=) c.1C= (p.Gln1=) | |
19 | g.1399804G>T | CA402996124 | GAMT | c.316C>A (p.Gln106Lys) c.247C>A (p.Gln83Lys) c.1C>A (p.Gln1Lys) | gnomAD v4 |
19 | g.1399805C>A | CA504730255 | GAMT | c.315G>T (p.Arg105=) c.246G>T (p.Arg82=) | gnomAD v4 |
19 | g.1399805C= | CA2317699498 | GAMT | c.315G= (p.Arg105=) c.246G= (p.Arg82=) | |
19 | g.1399805C>G | CA504730256 | GAMT | c.315G>C (p.Arg105=) c.246G>C (p.Arg82=) | |
19 | g.1399805C>T | CA9043740 | GAMT | c.315G>A (p.Arg105=) c.246G>A (p.Arg82=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399805_1399806del | CA2840515372 | GAMT | c.314_315del (p.Arg105ProfsTer21) c.245_246del (p.Arg82ProfsTer21) | |
19 | g.1399806C>A | CA402996129 | GAMT | c.314G>T (p.Arg105Leu) c.245G>T (p.Arg82Leu) | gnomAD v4 |
19 | g.1399806C= | CA2317699499 | GAMT | c.314G= (p.Arg105=) c.245G= (p.Arg82=) | |
19 | g.1399806C>G | CA402996131 | GAMT | c.314G>C (p.Arg105Pro) c.245G>C (p.Arg82Pro) | |
19 | g.1399806C>T | CA9043741 | GAMT | c.314G>A (p.Arg105Gln) c.245G>A (p.Arg82Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399806_1399807insCA | CA2499225406 | GAMT | c.313_314insTG (p.Arg105LeufsTer10) c.244_245insTG (p.Arg82LeufsTer10) | ClinVar dbSNP |
19 | g.1399807G>A | CA9043742 | GAMT | c.313C>T (p.Arg105Trp) c.244C>T (p.Arg82Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399807G>C | CA402996135 | GAMT | c.313C>G (p.Arg105Gly) c.244C>G (p.Arg82Gly) | |
19 | g.1399807G= | CA2317699500 | GAMT | c.313C= (p.Arg105=) c.244C= (p.Arg82=) | |
19 | g.1399807G>T | CA504730257 | GAMT | c.313C>A (p.Arg105=) c.244C>A (p.Arg82=) | gnomAD v4 COSMIC COSMIC |
19 | g.1399808T>A | CA504730258 | GAMT | c.312A>T (p.Pro104=) c.243A>T (p.Pro81=) | |
19 | g.1399808T>C | CA314778 | GAMT | c.312A>G (p.Pro104=) c.243A>G (p.Pro81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399808T>G | CA504730259 | GAMT | c.312A>C (p.Pro104=) c.243A>C (p.Pro81=) | |
19 | g.1399808T= | CA2317699501 | GAMT | c.312A= (p.Pro104=) c.243A= (p.Pro81=) | |
19 | g.1399809G>A | CA9043743 | GAMT | c.311C>T (p.Pro104Leu) c.242C>T (p.Pro81Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399809G>C | CA402996157 | GAMT | c.311C>G (p.Pro104Arg) c.242C>G (p.Pro81Arg) | |
19 | g.1399809G= | CA2317699502 | GAMT | c.311C= (p.Pro104=) c.242C= (p.Pro81=) | |
19 | g.1399809G>T | CA402996160 | GAMT | c.311C>A (p.Pro104Gln) c.242C>A (p.Pro81Gln) | gnomAD v4 |
19 | g.1399812del | CA2582641489 | GAMT | c.311del (p.Pro104HisfsTer10) c.242del (p.Pro81HisfsTer10) | gnomAD v4 |
19 | g.1399811_1399823dup | CA340767 | GAMT | c.299_311dup (p.Arg105GlyfsTer26) c.230_242dup (p.Arg82GlyfsTer26) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399810G>A | CA402996163 | GAMT | c.310C>T (p.Pro104Ser) c.241C>T (p.Pro81Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399810G>C | CA402996166 | GAMT | c.310C>G (p.Pro104Ala) c.241C>G (p.Pro81Ala) | gnomAD v4 |
19 | g.1399810G= | CA2317699503 | GAMT | c.310C= (p.Pro104=) c.241C= (p.Pro81=) | |
19 | g.1399810G>T | CA402996171 | GAMT | c.310C>A (p.Pro104Thr) c.241C>A (p.Pro81Thr) | gnomAD v4 |
19 | g.1399811G>A | CA504730260 | GAMT | c.309C>T (p.Ala103=) c.240C>T (p.Ala80=) | gnomAD v4 |
19 | g.1399811G>C | CA504730261 | GAMT | c.309C>G (p.Ala103=) c.240C>G (p.Ala80=) | ClinVar dbSNP |
19 | g.1399811G>T | CA504730262 | GAMT | c.309C>A (p.Ala103=) c.240C>A (p.Ala80=) | gnomAD v4 |
19 | g.1399812G>A | CA402996176 | GAMT | c.308C>T (p.Ala103Val) c.239C>T (p.Ala80Val) | ClinVar dbSNP gnomAD v4 |
19 | g.1399812G>C | CA402996178 | GAMT | c.308C>G (p.Ala103Gly) c.239C>G (p.Ala80Gly) | |
19 | g.1399812G= | CA2317699504 | GAMT | c.308C= (p.Ala103=) c.239C= (p.Ala80=) | |
19 | g.1399812G>T | CA402996180 | GAMT | c.308C>A (p.Ala103Asp) c.239C>A (p.Ala80Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399812_1399813delinsGC | CA2317699505 | GAMT | c.307_308delinsGC (p.Ala103=) c.238_239delinsGC (p.Ala80=) | |
19 | g.1399813C>A | CA402996192 | GAMT | c.307G>T (p.Ala103Ser) c.238G>T (p.Ala80Ser) | gnomAD v4 |
19 | g.1399813C= | CA2317699507 | GAMT | c.307G= (p.Ala103=) c.238G= (p.Ala80=) | |
19 | g.1399813C>G | CA402996186 | GAMT | c.307G>C (p.Ala103Pro) c.238G>C (p.Ala80Pro) | |
19 | g.1399813C>T | CA402996188 | GAMT | c.307G>A (p.Ala103Thr) c.238G>A (p.Ala80Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399815del | CA2317699506 | GAMT | c.307del (p.Ala103ProfsTer11) c.238del (p.Ala80ProfsTer11) | ClinVar dbSNP gnomAD v4 |
19 | g.1399814C>A | CA402996206 | GAMT | c.306G>T (p.Trp102Cys) c.237G>T (p.Trp79Cys) | gnomAD v4 |
19 | g.1399814C= | CA2317699508 | GAMT | c.306G= (p.Trp102=) c.237G= (p.Trp79=) | |
19 | g.1399814C>G | CA402996207 | GAMT | c.306G>C (p.Trp102Cys) c.237G>C (p.Trp79Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399814C>T | CA402996208 | GAMT | c.306G>A (p.Trp102Ter) c.237G>A (p.Trp79Ter) | ClinVar gnomAD v4 |
19 | g.1399815C>A | CA402996210 | GAMT | c.305G>T (p.Trp102Leu) c.236G>T (p.Trp79Leu) | gnomAD v4 |
19 | g.1399815C>G | CA402996211 | GAMT | c.305G>C (p.Trp102Ser) c.236G>C (p.Trp79Ser) | |
19 | g.1399815C>T | CA402996212 | GAMT | c.305G>A (p.Trp102Ter) c.236G>A (p.Trp79Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.1399816A= | CA2317699509 | GAMT | c.304T= (p.Trp102=) c.235T= (p.Trp79=) | |
19 | g.1399816A>C | CA402996213 | GAMT | c.304T>G (p.Trp102Gly) c.235T>G (p.Trp79Gly) | |
19 | g.1399816A>G | CA402996214 | GAMT | c.304T>C (p.Trp102Arg) c.235T>C (p.Trp79Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399816A>T | CA402996215 | GAMT | c.304T>A (p.Trp102Arg) c.235T>A (p.Trp79Arg) | gnomAD v4 |
19 | g.1399817G>A | CA504730263 | GAMT | c.303C>T (p.Asp101=) c.234C>T (p.Asp78=) | gnomAD v4 |
19 | g.1399817G>C | CA402996217 | GAMT | c.303C>G (p.Asp101Glu) c.234C>G (p.Asp78Glu) | gnomAD v4 |
19 | g.1399817G>T | CA402996219 | GAMT | c.303C>A (p.Asp101Glu) c.234C>A (p.Asp78Glu) | gnomAD v4 |
19 | g.1399818T>A | CA402996223 | GAMT | c.302A>T (p.Asp101Val) c.233A>T (p.Asp78Val) | gnomAD v4 |
19 | g.1399818T>C | CA402996222 | GAMT | c.302A>G (p.Asp101Gly) c.233A>G (p.Asp78Gly) | |
19 | g.1399818T>G | CA402996221 | GAMT | c.302A>C (p.Asp101Ala) c.233A>C (p.Asp78Ala) | |
19 | g.1399818_1399819delinsTC | CA2317699510 | GAMT | c.301_302delinsGA (p.Asp101=) c.232_233delinsGA (p.Asp78=) | |
19 | g.1399819C>A | CA402996224 | GAMT | c.301G>T (p.Asp101Tyr) c.232G>T (p.Asp78Tyr) | gnomAD v4 |
19 | g.1399819C>G | CA402996225 | GAMT | c.301G>C (p.Asp101His) c.232G>C (p.Asp78His) | gnomAD v4 |
19 | g.1399819C>T | CA402996228 | GAMT | c.301G>A (p.Asp101Asn) c.232G>A (p.Asp78Asn) | gnomAD v4 |
19 | g.1399821del | CA9043744 | GAMT | c.301del (p.Asp101ThrfsTer13) c.232del (p.Asp78ThrfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399820C>A | CA504730264 | GAMT | c.300G>T (p.Arg100=) c.231G>T (p.Arg77=) | gnomAD v4 |
19 | g.1399820C>G | CA504730265 | GAMT | c.300G>C (p.Arg100=) c.231G>C (p.Arg77=) | |
19 | g.1399820C>T | CA504730266 | GAMT | c.300G>A (p.Arg100=) c.231G>A (p.Arg77=) | gnomAD v4 |
19 | g.1399821C>A | CA402996231 | GAMT | c.299G>T (p.Arg100Leu) c.230G>T (p.Arg77Leu) | gnomAD v4 |
19 | g.1399821C= | CA2317699511 | GAMT | c.299G= (p.Arg100=) c.230G= (p.Arg77=) | |
19 | g.1399821C>G | CA402996232 | GAMT | c.299G>C (p.Arg100Pro) c.230G>C (p.Arg77Pro) | |
19 | g.1399821C>T | CA9043745 | GAMT | c.299G>A (p.Arg100Gln) c.230G>A (p.Arg77Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399822G>A | CA314802 | GAMT | c.298C>T (p.Arg100Trp) c.229C>T (p.Arg77Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399822G>C | CA402996236 | GAMT | c.298C>G (p.Arg100Gly) c.229C>G (p.Arg77Gly) | gnomAD v4 |
19 | g.1399822G= | CA2317699512 | GAMT | c.298C= (p.Arg100=) c.229C= (p.Arg77=) | |
19 | g.1399822G>T | CA504730267 | GAMT | c.298C>A (p.Arg100=) c.229C>A (p.Arg77=) | gnomAD v4 |
19 | g.1399823G>A | CA504730270 | GAMT | c.297C>T (p.Leu99=) c.228C>T (p.Leu76=) | |
19 | g.1399823G>C | CA504730269 | GAMT | c.297C>G (p.Leu99=) c.228C>G (p.Leu76=) | |
19 | g.1399823G>T | CA504730268 | GAMT | c.297C>A (p.Leu99=) c.228C>A (p.Leu76=) | gnomAD v4 |
19 | g.1399824A= | CA2317699513 | GAMT | c.296T= (p.Leu99=) c.227T= (p.Leu76=) | |
19 | g.1399824A>C | CA402996238 | GAMT | c.296T>G (p.Leu99Arg) c.227T>G (p.Leu76Arg) | |
19 | g.1399824A>G | CA402996242 | GAMT | c.296T>C (p.Leu99Pro) c.227T>C (p.Leu76Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399824A>T | CA402996245 | GAMT | c.296T>A (p.Leu99His) c.227T>A (p.Leu76His) | |
19 | g.1399825G>A | CA402996261 | GAMT | c.295C>T (p.Leu99Phe) c.226C>T (p.Leu76Phe) | ClinVar dbSNP gnomAD v4 |
19 | g.1399825G>C | CA402996259 | GAMT | c.295C>G (p.Leu99Val) c.226C>G (p.Leu76Val) | |
19 | g.1399825G= | CA2317699514 | GAMT | c.295C= (p.Leu99=) c.226C= (p.Leu76=) | |
19 | g.1399825G>T | CA402996250 | GAMT | c.295C>A (p.Leu99Ile) c.226C>A (p.Leu76Ile) | dbSNP gnomAD v4 |
19 | g.1399826C>A | CA504730273 | GAMT | c.294G>T (p.Arg98=) c.225G>T (p.Arg75=) | gnomAD v4 |
19 | g.1399826C>G | CA504730272 | GAMT | c.294G>C (p.Arg98=) c.225G>C (p.Arg75=) | |
19 | g.1399826C>T | CA504730271 | GAMT | c.294G>A (p.Arg98=) c.225G>A (p.Arg75=) | gnomAD v4 |
19 | g.1399827C>A | CA402996267 | GAMT | c.293G>T (p.Arg98Leu) c.224G>T (p.Arg75Leu) | gnomAD v4 |
19 | g.1399827C= | CA2317699515 | GAMT | c.293G= (p.Arg98=) c.224G= (p.Arg75=) | |
19 | g.1399827C>G | CA402996268 | GAMT | c.293G>C (p.Arg98Pro) c.224G>C (p.Arg75Pro) | |
19 | g.1399827C>T | CA9043746 | GAMT | c.293G>A (p.Arg98Gln) c.224G>A (p.Arg75Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399828G>A | CA9043747 | GAMT | c.292C>T (p.Arg98Trp) c.223C>T (p.Arg75Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399828G>C | CA402996278 | GAMT | c.292C>G (p.Arg98Gly) c.223C>G (p.Arg75Gly) | |
19 | g.1399828G= | CA2317699516 | GAMT | c.292C= (p.Arg98=) c.223C= (p.Arg75=) | |
19 | g.1399828G>T | CA504730274 | GAMT | c.292C>A (p.Arg98=) c.223C>A (p.Arg75=) | ClinVar gnomAD v4 |
19 | g.1399829C>A | CA314800 | GAMT | c.291G>T (p.Gln97His) c.222G>T (p.Gln74His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399829C= | CA2317699517 | GAMT | c.291G= (p.Gln97=) c.222G= (p.Gln74=) | |
19 | g.1399829C>G | CA402996286 | GAMT | c.291G>C (p.Gln97His) c.222G>C (p.Gln74His) | |
19 | g.1399829C>T | CA504730275 | GAMT | c.291G>A (p.Gln97=) c.222G>A (p.Gln74=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399830T>A | CA402996289 | GAMT | c.290A>T (p.Gln97Leu) c.221A>T (p.Gln74Leu) | |
19 | g.1399830T>C | CA402996293 | GAMT | c.290A>G (p.Gln97Arg) c.221A>G (p.Gln74Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399830T>G | CA9043748 | GAMT | c.290A>C (p.Gln97Pro) c.221A>C (p.Gln74Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399830T= | CA2317699518 | GAMT | c.290A= (p.Gln97=) c.221A= (p.Gln74=) | |
19 | g.1399830_1399831delinsTG | CA2317699519 | GAMT | c.289_290delinsCA (p.Gln97=) c.220_221delinsCA (p.Gln74=) | |
19 | g.1399831G>A | CA402996297 | GAMT | c.289C>T (p.Gln97Ter) c.220C>T (p.Gln74Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399831G>C | CA402996303 | GAMT | c.289C>G (p.Gln97Glu) c.220C>G (p.Gln74Glu) | |
19 | g.1399831G= | CA2317699520 | GAMT | c.289C= (p.Gln97=) c.220C= (p.Gln74=) | |
19 | g.1399831G>T | CA402996307 | GAMT | c.289C>A (p.Gln97Lys) c.220C>A (p.Gln74Lys) | gnomAD v4 |
19 | g.1399832dup | CA2582641490 | GAMT | c.289dup (p.Gln97ProfsTer30) c.220dup (p.Gln74ProfsTer30) | gnomAD v4 |
19 | g.1399832del | CA304066600 | GAMT | c.289del (p.Gln97SerfsTer17) c.220del (p.Gln74SerfsTer17) | ClinVar dbSNP |
19 | g.1399832G>A | CA504730276 | GAMT | c.288C>T (p.Phe96=) c.219C>T (p.Phe73=) | |
19 | g.1399832G>C | CA402996319 | GAMT | c.288C>G (p.Phe96Leu) c.219C>G (p.Phe73Leu) | ClinVar dbSNP |
19 | g.1399832G= | CA2317699521 | GAMT | c.288C= (p.Phe96=) c.219C= (p.Phe73=) | |
19 | g.1399832G>T | CA402996310 | GAMT | c.288C>A (p.Phe96Leu) c.219C>A (p.Phe73Leu) | gnomAD v4 |
19 | g.1399833A>C | CA402996325 | GAMT | c.287T>G (p.Phe96Cys) c.218T>G (p.Phe73Cys) | |
19 | g.1399833A>G | CA402996334 | GAMT | c.287T>C (p.Phe96Ser) c.218T>C (p.Phe73Ser) | gnomAD v4 |
19 | g.1399833A>T | CA402996338 | GAMT | c.287T>A (p.Phe96Tyr) c.218T>A (p.Phe73Tyr) | |
19 | g.1399833_1399836del | CA2582641491 | GAMT | c.284_287del (p.Val95AlafsTer18) c.215_218del (p.Val72AlafsTer18) | gnomAD v4 |
19 | g.1399834A>C | CA402996342 | GAMT | c.286T>G (p.Phe96Val) c.217T>G (p.Phe73Val) | |
19 | g.1399834A>G | CA402996343 | GAMT | c.286T>C (p.Phe96Leu) c.217T>C (p.Phe73Leu) | |
19 | g.1399834A>T | CA402996346 | GAMT | c.286T>A (p.Phe96Ile) c.217T>A (p.Phe73Ile) | |
19 | g.1399835G>A | CA504730277 | GAMT | c.285C>T (p.Val95=) c.216C>T (p.Val72=) | gnomAD v4 |
19 | g.1399835G>C | CA504730279 | GAMT | c.285C>G (p.Val95=) c.216C>G (p.Val72=) | |
19 | g.1399835G>T | CA504730281 | GAMT | c.285C>A (p.Val95=) c.216C>A (p.Val72=) | gnomAD v4 |
19 | g.1399836_1399838dup | CA2695223160 | GAMT | c.283_285dup (p.Val95_Phe96insVal) c.214_216dup (p.Val72_Phe73insVal) | |
19 | g.1399840_1399897dup | CA2582641492 | GAMT | c.228_285dup (p.Phe96LysfsTer8) c.159_216dup (p.Phe73LysfsTer8) | gnomAD v4 |
19 | g.1399836A>C | CA402996347 | GAMT | c.284T>G (p.Val95Gly) c.215T>G (p.Val72Gly) | |
19 | g.1399836A>G | CA402996349 | GAMT | c.284T>C (p.Val95Ala) c.215T>C (p.Val72Ala) | |
19 | g.1399836A>T | CA402996351 | GAMT | c.284T>A (p.Val95Asp) c.215T>A (p.Val72Asp) | |
19 | g.1399837C>A | CA402996352 | GAMT | c.283G>T (p.Val95Phe) c.214G>T (p.Val72Phe) | gnomAD v4 |
19 | g.1399837C= | CA2317699522 | GAMT | c.283G= (p.Val95=) c.214G= (p.Val72=) | |
19 | g.1399837C>G | CA402996353 | GAMT | c.283G>C (p.Val95Leu) c.214G>C (p.Val72Leu) | |
19 | g.1399837C>T | CA9043749 | GAMT | c.283G>A (p.Val95Ile) c.214G>A (p.Val72Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399837_1399840del | CA2582641493 | GAMT | c.280_283del (p.Gly94SerfsTer19) c.211_214del (p.Gly71SerfsTer19) | gnomAD v4 |
19 | g.1399837_1399842delinsGTGCATCGAG | CA2695223162 | GAMT | c.278_283delinsCTCGATGCAC (p.Asp93AlafsTer?) c.209_214delinsCTCGATGCAC (p.Asp70AlafsTer?) | |
19 | g.1399838G>A | CA9043750 | GAMT | c.282C>T (p.Gly94=) c.213C>T (p.Gly71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399838G>C | CA504730285 | GAMT | c.282C>G (p.Gly94=) c.213C>G (p.Gly71=) | dbSNP |
19 | g.1399838G= | CA2317699523 | GAMT | c.282C= (p.Gly94=) c.213C= (p.Gly71=) | |
19 | g.1399838G>T | CA504730286 | GAMT | c.282C>A (p.Gly94=) c.213C>A (p.Gly71=) | |
19 | g.1399839C>A | CA402996369 | GAMT | c.281G>T (p.Gly94Val) c.212G>T (p.Gly71Val) | dbSNP |
19 | g.1399839C= | CA2317699524 | GAMT | c.281G= (p.Gly94=) c.212G= (p.Gly71=) | |
19 | g.1399839C>G | CA402996363 | GAMT | c.281G>C (p.Gly94Ala) c.212G>C (p.Gly71Ala) | |
19 | g.1399839C>T | CA402996359 | GAMT | c.281G>A (p.Gly94Asp) c.212G>A (p.Gly71Asp) | |
19 | g.1399840C>A | CA402996376 | GAMT | c.280G>T (p.Gly94Cys) c.211G>T (p.Gly71Cys) | dbSNP gnomAD v4 |
19 | g.1399840C= | CA2317699525 | GAMT | c.280G= (p.Gly94=) c.211G= (p.Gly71=) | |
19 | g.1399840C>G | CA402996379 | GAMT | c.280G>C (p.Gly94Arg) c.211G>C (p.Gly71Arg) | |
19 | g.1399840C>T | CA9043751 | GAMT | c.280G>A (p.Gly94Ser) c.211G>A (p.Gly71Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399841G>A | CA291015 | GAMT | c.279C>T (p.Asp93=) c.210C>T (p.Asp70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399841G>C | CA402996390 | GAMT | c.279C>G (p.Asp93Glu) c.210C>G (p.Asp70Glu) | dbSNP |
19 | g.1399841G= | CA2317699526 | GAMT | c.279C= (p.Asp93=) c.210C= (p.Asp70=) | |
19 | g.1399841G>T | CA402996394 | GAMT | c.279C>A (p.Asp93Glu) c.210C>A (p.Asp70Glu) | |
19 | g.1399842T>A | CA402996396 | GAMT | c.278A>T (p.Asp93Val) c.209A>T (p.Asp70Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399842T>C | CA402996397 | GAMT | c.278A>G (p.Asp93Gly) c.209A>G (p.Asp70Gly) | |
19 | g.1399842T>G | CA402996400 | GAMT | c.278A>C (p.Asp93Ala) c.209A>C (p.Asp70Ala) | |
19 | g.1399842T= | CA2317699527 | GAMT | c.278A= (p.Asp93=) c.209A= (p.Asp70=) | |
19 | g.1399842_1399843insGCATCGAG | CA2582641494 | GAMT | c.277_278insCTCGATGC (p.Asp93AlafsTer24) c.208_209insCTCGATGC (p.Asp70AlafsTer24) | gnomAD v4 |
19 | g.1399843C>A | CA402996402 | GAMT | c.277G>T (p.Asp93Tyr) c.208G>T (p.Asp70Tyr) | gnomAD v4 COSMIC COSMIC |
19 | g.1399843C>G | CA402996404 | GAMT | c.277G>C (p.Asp93His) c.208G>C (p.Asp70His) | |
19 | g.1399843C>T | CA402996406 | GAMT | c.277G>A (p.Asp93Asn) c.208G>A (p.Asp70Asn) | |
19 | g.1399844A= | CA2317699528 | GAMT | c.276T= (p.Asn92=) c.207T= (p.Asn69=) | |
19 | g.1399844A>C | CA9043752 | GAMT | c.276T>G (p.Asn92Lys) c.207T>G (p.Asn69Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399844A>G | CA504730288 | GAMT | c.276T>C (p.Asn92=) c.207T>C (p.Asn69=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399844A>T | CA402996412 | GAMT | c.276T>A (p.Asn92Lys) c.207T>A (p.Asn69Lys) | |
19 | g.1399845T>A | CA402996419 | GAMT | c.275A>T (p.Asn92Ile) c.206A>T (p.Asn69Ile) | |
19 | g.1399845T>C | CA402996417 | GAMT | c.275A>G (p.Asn92Ser) c.206A>G (p.Asn69Ser) | gnomAD v4 |
19 | g.1399845T>G | CA402996415 | GAMT | c.275A>C (p.Asn92Thr) c.206A>C (p.Asn69Thr) | |
19 | g.1399846T>A | CA402996423 | GAMT | c.274A>T (p.Asn92Tyr) c.205A>T (p.Asn69Tyr) | |
19 | g.1399846T>C | CA402996427 | GAMT | c.274A>G (p.Asn92Asp) c.205A>G (p.Asn69Asp) | ClinVar gnomAD v4 |
19 | g.1399846T>G | CA402996430 | GAMT | c.274A>C (p.Asn92His) c.205A>C (p.Asn69His) | |
19 | g.1399847G>A | CA504730290 | GAMT | c.273C>T (p.Cys91=) c.204C>T (p.Cys68=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399847G>C | CA402996434 | GAMT | c.273C>G (p.Cys91Trp) c.204C>G (p.Cys68Trp) | |
19 | g.1399847G>T | CA402996437 | GAMT | c.273C>A (p.Cys91Ter) c.204C>A (p.Cys68Ter) | gnomAD v4 |