Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.118108274_118110927del | CA916081523 | EXT1 | c.124_962+1815del c.73+51_73+2704del (n.73+51_73+2704del) | ClinVar |
8 | g.118109691_118110512del | CA2499219105 | EXT1 | c.540_962+399del c.73+467_73+1288del (n.73+467_73+1288del) | ClinVar dbSNP |
8 | g.118110042G>A | CA4854284 | EXT1 | c.962+43C>T (n.962+43C>T) c.330+43C>T c.73+932C>T (n.73+932C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110042G= | CA1814088258 | EXT1 | c.962+43C= (n.962+43C=) c.330+43C= c.73+932C= (n.73+932C=) | |
8 | g.118110043C>A | CA4854285 | EXT1 | c.962+42G>T (n.962+42G>T) c.330+42G>T c.73+931G>T (n.73+931G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110043C= | CA1814088260 | EXT1 | c.962+42G= (n.962+42G=) c.330+42G= c.73+931G= (n.73+931G=) | |
8 | g.118110045dup | CA2840031298 | EXT1 | c.962+42dup (n.962+42dup) c.330+42dup c.73+931dup (n.73+931dup) | |
8 | g.118110045C= | CA1814088264 | EXT1 | c.962+40G= (n.962+40G=) c.330+40G= c.73+929G= (n.73+929G=) | |
8 | g.118110045C>T | CA1814088265 | EXT1 | c.962+40G>A (n.962+40G>A) c.330+40G>A c.73+929G>A (n.73+929G>A) | dbSNP |
8 | g.118110048G>A | CA2579235238 | EXT1 | c.962+37C>T (n.962+37C>T) c.330+37C>T c.73+926C>T (n.73+926C>T) | |
8 | g.118110048G>C | CA184682373 | EXT1 | c.962+37C>G (n.962+37C>G) c.330+37C>G c.73+926C>G (n.73+926C>G) | dbSNP gnomAD v4 |
8 | g.118110048G= | CA1814088266 | EXT1 | c.962+37C= (n.962+37C=) c.330+37C= c.73+926C= (n.73+926C=) | |
8 | g.118110048G>T | CA2579235239 | EXT1 | c.962+37C>A (n.962+37C>A) c.330+37C>A c.73+926C>A (n.73+926C>A) | |
8 | g.118110049G>C | CA2718095157 | EXT1 | c.962+36C>G (n.962+36C>G) c.330+36C>G c.73+925C>G (n.73+925C>G) | dbSNP |
8 | g.118110049G= | CA1814088269 | EXT1 | c.962+36C= (n.962+36C=) c.330+36C= c.73+925C= (n.73+925C=) | |
8 | g.118110049G>T | CA4854286 | EXT1 | c.962+36C>A (n.962+36C>A) c.330+36C>A c.73+925C>A (n.73+925C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110050C>T | CA2718209757 | EXT1 | c.962+35G>A (n.962+35G>A) c.330+35G>A c.73+924G>A (n.73+924G>A) | dbSNP |
8 | g.118110051dup | CA2688347000 | EXT1 | c.962+34dup (n.962+34dup) c.330+34dup c.73+923dup (n.73+923dup) | gnomAD v4 |
8 | g.118110052G>C | CA2579235240 | EXT1 | c.962+33C>G (n.962+33C>G) c.330+33C>G c.73+922C>G (n.73+922C>G) | |
8 | g.118110052G>T | CA2688347001 | EXT1 | c.962+33C>A (n.962+33C>A) c.330+33C>A c.73+922C>A (n.73+922C>A) | gnomAD v4 |
8 | g.118110053_118110056delinsACTC | CA1814088271 | EXT1 | c.962+29_962+32delinsGAGT (n.962+29_962+32delinsGAGT) c.330+29_330+32delinsGAGT c.73+918_73+921delinsGAGT (n.73+918_73+921delinsGAGT) | |
8 | g.118110054C>T | CA2718209799 | EXT1 | c.962+31G>A (n.962+31G>A) c.330+31G>A c.73+920G>A (n.73+920G>A) | dbSNP |
8 | g.118110055_118110057del | CA584473392 | EXT1 | c.962+29_962+31del (n.962+29_962+31del) c.330+29_330+31del c.73+918_73+920del (n.73+918_73+920del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.118110055T>C | CA184682376 | EXT1 | c.962+30A>G (n.962+30A>G) c.330+30A>G c.73+919A>G (n.73+919A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.118110055T>G | CA2579235241 | EXT1 | c.962+30A>C (n.962+30A>C) c.330+30A>C c.73+919A>C (n.73+919A>C) | gnomAD v4 |
8 | g.118110055T= | CA1814088273 | EXT1 | c.962+30A= (n.962+30A=) c.330+30A= c.73+919A= (n.73+919A=) | |
8 | g.118110056C>G | CA2688347002 | EXT1 | c.962+29G>C (n.962+29G>C) c.330+29G>C c.73+918G>C (n.73+918G>C) | gnomAD v4 |
8 | g.118110058C= | CA1814088275 | EXT1 | c.962+27G= (n.962+27G=) c.330+27G= c.73+916G= (n.73+916G=) | |
8 | g.118110058C>T | CA4854287 | EXT1 | c.962+27G>A (n.962+27G>A) c.330+27G>A c.73+916G>A (n.73+916G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.118110062G>A | CA2688347003 | EXT1 | c.962+23C>T (n.962+23C>T) c.330+23C>T c.73+912C>T (n.73+912C>T) | gnomAD v4 |
8 | g.118110062G>C | CA584473393 | EXT1 | c.962+23C>G (n.962+23C>G) c.330+23C>G c.73+912C>G (n.73+912C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.118110062G= | CA1814088277 | EXT1 | c.962+23C= (n.962+23C=) c.330+23C= c.73+912C= (n.73+912C=) | |
8 | g.118110062G>T | CA2688347004 | EXT1 | c.962+23C>A (n.962+23C>A) c.330+23C>A c.73+912C>A (n.73+912C>A) | gnomAD v4 |
8 | g.118110063A= | CA1814088278 | EXT1 | c.962+22T= (n.962+22T=) c.330+22T= c.73+911T= (n.73+911T=) | |
8 | g.118110063A>G | CA4854288 | EXT1 | c.962+22T>C (n.962+22T>C) c.330+22T>C c.73+911T>C (n.73+911T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110064C>T | CA2718209800 | EXT1 | c.962+21G>A (n.962+21G>A) c.330+21G>A c.73+910G>A (n.73+910G>A) | dbSNP |
8 | g.118110065A= | CA1814088279 | EXT1 | c.962+20T= (n.962+20T=) c.330+20T= c.73+909T= (n.73+909T=) | |
8 | g.118110065A>C | CA1118366413 | EXT1 | c.962+20T>G (n.962+20T>G) c.330+20T>G c.73+909T>G (n.73+909T>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.118110066C= | CA1814088281 | EXT1 | c.962+19G= (n.962+19G=) c.330+19G= c.73+908G= (n.73+908G=) | |
8 | g.118110066C>G | CA2688347005 | EXT1 | c.962+19G>C (n.962+19G>C) c.330+19G>C c.73+908G>C (n.73+908G>C) | gnomAD v4 |
8 | g.118110066C>T | CA184682380 | EXT1 | c.962+19G>A (n.962+19G>A) c.330+19G>A c.73+908G>A (n.73+908G>A) | dbSNP gnomAD v4 |
8 | g.118110067G>A | CA4854289 | EXT1 | c.962+18C>T (n.962+18C>T) c.330+18C>T c.73+907C>T (n.73+907C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110067G>C | CA2718094732 | EXT1 | c.962+18C>G (n.962+18C>G) c.330+18C>G c.73+907C>G (n.73+907C>G) | dbSNP |
8 | g.118110067G= | CA1814088283 | EXT1 | c.962+18C= (n.962+18C=) c.330+18C= c.73+907C= (n.73+907C=) | |
8 | g.118110067_118110068delinsGC | CA1814088284 | EXT1 | c.962+17_962+18delinsGC (n.962+17_962+18delinsGC) c.330+17_330+18delinsGC c.73+906_73+907delinsGC (n.73+906_73+907delinsGC) | |
8 | g.118110068C= | CA1814088286 | EXT1 | c.962+17G= (n.962+17G=) c.330+17G= c.73+906G= (n.73+906G=) | |
8 | g.118110068C>T | CA184682382 | EXT1 | c.962+17G>A (n.962+17G>A) c.330+17G>A c.73+906G>A (n.73+906G>A) | dbSNP |
8 | g.118110069del | CA4854290 | EXT1 | c.962+17del (n.962+17del) c.330+17del c.73+906del (n.73+906del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.118110069C>G | CA2688347006 | EXT1 | c.962+16G>C (n.962+16G>C) c.330+16G>C c.73+905G>C (n.73+905G>C) | gnomAD v4 |
8 | g.118110070A>G | CA2688347007 | EXT1 | c.962+15T>C (n.962+15T>C) c.330+15T>C c.73+904T>C (n.73+904T>C) | gnomAD v4 |
8 | g.118110071G>A | CA4854291 | EXT1 | c.962+14C>T (n.962+14C>T) c.330+14C>T c.73+903C>T (n.73+903C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110071G= | CA1814088288 | EXT1 | c.962+14C= (n.962+14C=) c.330+14C= c.73+903C= (n.73+903C=) | |
8 | g.118110071G>T | CA2688347008 | EXT1 | c.962+14C>A (n.962+14C>A) c.330+14C>A c.73+903C>A (n.73+903C>A) | gnomAD v4 |
8 | g.118110072C>A | CA2579235242 | EXT1 | c.962+13G>T (n.962+13G>T) c.330+13G>T c.73+902G>T (n.73+902G>T) | |
8 | g.118110072C= | CA1814088289 | EXT1 | c.962+13G= (n.962+13G=) c.330+13G= c.73+902G= (n.73+902G=) | |
8 | g.118110072C>G | CA1814088290 | EXT1 | c.962+13G>C (n.962+13G>C) c.330+13G>C c.73+902G>C (n.73+902G>C) | dbSNP |
8 | g.118110072C>T | CA2718150859 | EXT1 | c.962+13G>A (n.962+13G>A) c.330+13G>A c.73+902G>A (n.73+902G>A) | dbSNP |
8 | g.118110073_118110080del | CA2688347009 | EXT1 | c.962+6_962+13del (n.962+6_962+13del) c.330+6_330+13del c.73+895_73+902del (n.73+895_73+902del) | gnomAD v4 |
8 | g.118110073C>A | CA4854293 | EXT1 | c.962+12G>T (n.962+12G>T) c.330+12G>T c.73+901G>T (n.73+901G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.118110073C= | CA1814088292 | EXT1 | c.962+12G= (n.962+12G=) c.330+12G= c.73+901G= (n.73+901G=) | |
8 | g.118110073C>T | CA1814088293 | EXT1 | c.962+12G>A (n.962+12G>A) c.330+12G>A c.73+901G>A (n.73+901G>A) | dbSNP |
8 | g.118110073_118110077delinsCCAGA | CA1814088296 | EXT1 | c.962+8_962+12delinsTCTGG (n.962+8_962+12delinsTCTGG) c.330+8_330+12delinsTCTGG c.73+897_73+901delinsTCTGG (n.73+897_73+901delinsTCTGG) | |
8 | g.118110076_118110079dup | CA184682387 | EXT1 | c.962+8_962+11dup (n.962+8_962+11dup) c.330+8_330+11dup c.73+897_73+900dup (n.73+897_73+900dup) | dbSNP |
8 | g.118110076_118110079del | CA4854292 | EXT1 | c.962+8_962+11del (n.962+8_962+11del) c.330+8_330+11del c.73+897_73+900del (n.73+897_73+900del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110076G>A | CA2688347010 | EXT1 | c.962+9C>T (n.962+9C>T) c.330+9C>T c.73+898C>T (n.73+898C>T) | gnomAD v4 |
8 | g.118110076G>C | CA2718209819 | EXT1 | c.962+9C>G (n.962+9C>G) c.330+9C>G c.73+898C>G (n.73+898C>G) | dbSNP |
8 | g.118110077A= | CA1814088301 | EXT1 | c.962+8T= (n.962+8T=) c.330+8T= c.73+897T= (n.73+897T=) | |
8 | g.118110077A>C | CA1814088302 | EXT1 | c.962+8T>G (n.962+8T>G) c.330+8T>G c.73+897T>G (n.73+897T>G) | dbSNP |
8 | g.118110078C>A | CA1814088307 | EXT1 | c.962+7G>T (n.962+7G>T) c.330+7G>T c.73+896G>T (n.73+896G>T) | dbSNP gnomAD v4 |
8 | g.118110078C= | CA1814088305 | EXT1 | c.962+7G= (n.962+7G=) c.330+7G= c.73+896G= (n.73+896G=) | |
8 | g.118110078C>G | CA4854295 | EXT1 | c.962+7G>C (n.962+7G>C) c.330+7G>C c.73+896G>C (n.73+896G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110078C>T | CA4854294 | EXT1 | c.962+7G>A (n.962+7G>A) c.330+7G>A c.73+896G>A (n.73+896G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.118110078_118110082delinsCACTT | CA1814088308 | EXT1 | c.962+3_962+7delinsAAGTG (n.962+3_962+7delinsAAGTG) c.330+3_330+7delinsAAGTG c.73+892_73+896delinsAAGTG (n.73+892_73+896delinsAAGTG) | |
8 | g.118110079A= | CA1814088314 | EXT1 | c.962+6T= (n.962+6T=) c.330+6T= c.73+895T= (n.73+895T=) | |
8 | g.118110079A>G | CA4854296 | EXT1 | c.962+6T>C (n.962+6T>C) c.330+6T>C c.73+895T>C (n.73+895T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.118110079A>T | CA2718098367 | EXT1 | c.962+6T>A (n.962+6T>A) c.330+6T>A c.73+895T>A (n.73+895T>A) | dbSNP |
8 | g.118110083_118110086del | CA913184923 | EXT1 | c.962+3_962+6del c.330+3_330+6del c.73+892_73+895del (n.73+892_73+895del) | ClinVar dbSNP gnomAD v4 |
8 | g.118110080C= | CA1814088316 | EXT1 | c.962+5G= (n.962+5G=) c.330+5G= c.73+894G= (n.73+894G=) | |
8 | g.118110080C>G | CA1814088318 | EXT1 | c.962+5G>C (n.962+5G>C) c.330+5G>C c.73+894G>C (n.73+894G>C) | ClinVar dbSNP |
8 | g.118110080C>T | CA2688347011 | EXT1 | c.962+5G>A (n.962+5G>A) c.330+5G>A c.73+894G>A (n.73+894G>A) | gnomAD v4 |
8 | g.118110082T>C | CA4854297 | EXT1 | c.962+3A>G (n.962+3A>G) c.330+3A>G c.73+892A>G (n.73+892A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110082T= | CA1814088320 | EXT1 | c.962+3A= (n.962+3A=) c.330+3A= c.73+892A= (n.73+892A=) | |
8 | g.118110083A>C | CA371914647 | EXT1 | c.962+2T>G (n.962+2T>G) c.330+2T>G c.73+891T>G (n.73+891T>G) | |
8 | g.118110083A>G | CA371914648 | EXT1 | c.962+2T>C (n.962+2T>C) c.330+2T>C c.73+891T>C (n.73+891T>C) | |
8 | g.118110083A>T | CA371914649 | EXT1 | c.962+2T>A (n.962+2T>A) c.330+2T>A c.73+891T>A (n.73+891T>A) | |
8 | g.118110084C>A | CA10588450 | EXT1 | c.962+1G>T (n.962+1G>T) c.330+1G>T c.73+890G>T (n.73+890G>T) | ClinVar dbSNP COSMIC |
8 | g.118110084C= | CA1814088325 | EXT1 | c.962+1G= (n.962+1G=) c.330+1G= c.73+890G= (n.73+890G=) | |
8 | g.118110084C>G | CA371914651 | EXT1 | c.962+1G>C (n.962+1G>C) c.330+1G>C c.73+890G>C (n.73+890G>C) | ClinVar dbSNP |
8 | g.118110084C>T | CA371914650 | EXT1 | c.962+1G>A (n.962+1G>A) c.330+1G>A c.73+890G>A (n.73+890G>A) | ClinVar dbSNP |
8 | g.118110085T>A | CA371914652 | EXT1 | c.962A>T (p.Lys321Met) c.330A>T c.73+889A>T (n.73+889A>T) | |
8 | g.118110085T>C | CA4854298 | EXT1 | c.962A>G (p.Lys321Arg) c.330A>G c.73+889A>G (n.73+889A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110085T>G | CA371914653 | EXT1 | c.962A>C (p.Lys321Thr) c.330A>C c.73+889A>C (n.73+889A>C) | gnomAD v4 |
8 | g.118110085T= | CA1814088329 | EXT1 | c.962A= (p.Lys321=) c.330A= c.73+889A= (n.73+889A=) | |
8 | g.118110086T>A | CA371914654 | EXT1 | c.961A>T (p.Lys321Ter) c.329A>T c.73+888A>T (n.73+888A>T) | ClinVar dbSNP |
8 | g.118110086T>C | CA371914655 | EXT1 | c.961A>G (p.Lys321Glu) c.329A>G c.73+888A>G (n.73+888A>G) | |
8 | g.118110086T>G | CA371914656 | EXT1 | c.961A>C (p.Lys321Gln) c.329A>C c.73+888A>C (n.73+888A>C) | |
8 | g.118110086T= | CA1814088333 | EXT1 | c.961A= (p.Lys321=) c.329A= c.73+888A= (n.73+888A=) | |
8 | g.118110087del | CA2695210132 | EXT1 | c.960del (p.Lys321SerfsTer?) c.328del c.73+887del (n.73+887del) | |
8 | g.118110087C>A | CA371914657 | EXT1 | c.960G>T (p.Glu320Asp) c.328G>T c.73+887G>T (n.73+887G>T) | |
8 | g.118110087C>G | CA371914658 | EXT1 | c.960G>C (p.Glu320Asp) c.328G>C c.73+887G>C (n.73+887G>C) | |
8 | g.118110087C>T | CA462471421 | EXT1 | c.960G>A (p.Glu320=) c.328G>A c.73+887G>A (n.73+887G>A) | |
8 | g.118110088del | CA462471422 | EXT1 | c.959del (p.Glu320GlyfsTer?) c.327del c.73+886del (n.73+886del) | COSMIC |
8 | g.118110088T>A | CA371914659 | EXT1 | c.959A>T (p.Glu320Val) c.327A>T c.73+886A>T (n.73+886A>T) | |
8 | g.118110088T>C | CA371914660 | EXT1 | c.959A>G (p.Glu320Gly) c.327A>G c.73+886A>G (n.73+886A>G) | |
8 | g.118110088T>G | CA371914661 | EXT1 | c.959A>C (p.Glu320Ala) c.327A>C c.73+886A>C (n.73+886A>C) | |
8 | g.118110089C>A | CA371914662 | EXT1 | c.958G>T (p.Glu320Ter) c.326G>T c.73+885G>T (n.73+885G>T) | dbSNP |
8 | g.118110089C= | CA1814088336 | EXT1 | c.958G= (p.Glu320=) c.326G= c.73+885G= (n.73+885G=) | |
8 | g.118110089C>G | CA371914663 | EXT1 | c.958G>C (p.Glu320Gln) c.326G>C c.73+885G>C (n.73+885G>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.118110089C>T | CA371914664 | EXT1 | c.958G>A (p.Glu320Lys) c.326G>A c.73+885G>A (n.73+885G>A) | dbSNP |
8 | g.118110090A= | CA1814088340 | EXT1 | c.957T= (p.Tyr319=) c.325T= c.73+884T= (n.73+884T=) | |
8 | g.118110090A>C | CA371914666 | EXT1 | c.957T>G (p.Tyr319Ter) c.325T>G c.73+884T>G (n.73+884T>G) | gnomAD v4 |
8 | g.118110090A>G | CA462471423 | EXT1 | c.957T>C (p.Tyr319=) c.325T>C c.73+884T>C (n.73+884T>C) | |
8 | g.118110090A>T | CA371914665 | EXT1 | c.957T>A (p.Tyr319Ter) c.325T>A c.73+884T>A (n.73+884T>A) | ClinVar dbSNP |
8 | g.118110091T>A | CA371914667 | EXT1 | c.956A>T (p.Tyr319Phe) c.324A>T c.73+883A>T (n.73+883A>T) | gnomAD v4 |
8 | g.118110091T>C | CA371914669 | EXT1 | c.956A>G (p.Tyr319Cys) c.324A>G c.73+883A>G (n.73+883A>G) | gnomAD v4 |
8 | g.118110091T>G | CA371914668 | EXT1 | c.956A>C (p.Tyr319Ser) c.324A>C c.73+883A>C (n.73+883A>C) | |
8 | g.118110092A= | CA1814088343 | EXT1 | c.955T= (p.Tyr319=) c.323T= c.73+882T= (n.73+882T=) | |
8 | g.118110092A>C | CA371914670 | EXT1 | c.955T>G (p.Tyr319Asp) c.323T>G c.73+882T>G (n.73+882T>G) | |
8 | g.118110092A>G | CA371914672 | EXT1 | c.955T>C (p.Tyr319His) c.323T>C c.73+882T>C (n.73+882T>C) | dbSNP |
8 | g.118110092A>T | CA371914671 | EXT1 | c.955T>A (p.Tyr319Asn) c.323T>A c.73+882T>A (n.73+882T>A) | dbSNP gnomAD v4 |
8 | g.118110093C>A | CA371914673 | EXT1 | c.954G>T (p.Glu318Asp) c.322G>T c.73+881G>T (n.73+881G>T) | |
8 | g.118110093C= | CA1814088345 | EXT1 | c.954G= (p.Glu318=) c.322G= c.73+881G= (n.73+881G=) | |
8 | g.118110093C>G | CA371914674 | EXT1 | c.954G>C (p.Glu318Asp) c.322G>C c.73+881G>C (n.73+881G>C) | gnomAD v4 |
8 | g.118110093C>T | CA462471424 | EXT1 | c.954G>A (p.Glu318=) c.322G>A c.73+881G>A (n.73+881G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110094T>A | CA371914675 | EXT1 | c.953A>T (p.Glu318Val) c.321A>T c.73+880A>T (n.73+880A>T) | |
8 | g.118110094T>C | CA371914676 | EXT1 | c.953A>G (p.Glu318Gly) c.321A>G c.73+880A>G (n.73+880A>G) | dbSNP |
8 | g.118110094T>G | CA371914677 | EXT1 | c.953A>C (p.Glu318Ala) c.321A>C c.73+880A>C (n.73+880A>C) | gnomAD v4 |
8 | g.118110094T= | CA1814088347 | EXT1 | c.953A= (p.Glu318=) c.321A= c.73+880A= (n.73+880A=) | |
8 | g.118110095C>A | CA371914678 | EXT1 | c.952G>T (p.Glu318Ter) c.320G>T c.73+879G>T (n.73+879G>T) | |
8 | g.118110095C>G | CA371914679 | EXT1 | c.952G>C (p.Glu318Gln) c.320G>C c.73+879G>C (n.73+879G>C) | gnomAD v4 |
8 | g.118110095C>T | CA371914680 | EXT1 | c.952G>A (p.Glu318Lys) c.320G>A c.73+879G>A (n.73+879G>A) | |
8 | g.118110096G>A | CA462471425 | EXT1 | c.951C>T (p.Thr317=) c.319C>T c.73+878C>T (n.73+878C>T) | dbSNP gnomAD v4 |
8 | g.118110096G>C | CA462471426 | EXT1 | c.951C>G (p.Thr317=) c.319C>G c.73+878C>G (n.73+878C>G) | dbSNP gnomAD v4 |
8 | g.118110096G= | CA1814088351 | EXT1 | c.951C= (p.Thr317=) c.319C= c.73+878C= (n.73+878C=) | |
8 | g.118110096G>T | CA462471427 | EXT1 | c.951C>A (p.Thr317=) c.319C>A c.73+878C>A (n.73+878C>A) | dbSNP |
8 | g.118110097G>A | CA371914681 | EXT1 | c.950C>T (p.Thr317Ile) c.318C>T c.73+877C>T (n.73+877C>T) | dbSNP |
8 | g.118110097G>C | CA4854299 | EXT1 | c.950C>G (p.Thr317Ser) c.318C>G c.73+877C>G (n.73+877C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110097G= | CA1814088353 | EXT1 | c.950C= (p.Thr317=) c.318C= c.73+877C= (n.73+877C=) | |
8 | g.118110097G>T | CA371914682 | EXT1 | c.950C>A (p.Thr317Asn) c.318C>A c.73+877C>A (n.73+877C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.118110098del | CA2697550118 | EXT1 | c.949del (p.Thr317ProfsTer?) c.317del c.73+876del (n.73+876del) | ClinVar |
8 | g.118110098T>A | CA371914685 | EXT1 | c.949A>T (p.Thr317Ser) c.317A>T c.73+876A>T (n.73+876A>T) | |
8 | g.118110098T>C | CA371914683 | EXT1 | c.949A>G (p.Thr317Ala) c.317A>G c.73+876A>G (n.73+876A>G) | |
8 | g.118110098T>G | CA371914684 | EXT1 | c.949A>C (p.Thr317Pro) c.317A>C c.73+876A>C (n.73+876A>C) | |
8 | g.118110099G>A | CA462471428 | EXT1 | c.948C>T (p.Asn316=) c.316C>T c.73+875C>T (n.73+875C>T) | dbSNP |
8 | g.118110099G>C | CA371914686 | EXT1 | c.948C>G (p.Asn316Lys) c.316C>G c.73+875C>G (n.73+875C>G) | |
8 | g.118110099G>T | CA371914687 | EXT1 | c.948C>A (p.Asn316Lys) c.316C>A c.73+875C>A (n.73+875C>A) | |
8 | g.118110100T>A | CA371914688 | EXT1 | c.947A>T (p.Asn316Ile) c.315A>T c.73+874A>T (n.73+874A>T) | |
8 | g.118110100T>C | CA371914689 | EXT1 | c.947A>G (p.Asn316Ser) c.315A>G c.73+874A>G (n.73+874A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.118110100T>G | CA371914690 | EXT1 | c.947A>C (p.Asn316Thr) c.315A>C c.73+874A>C (n.73+874A>C) | |
8 | g.118110100T= | CA1814088355 | EXT1 | c.947A= (p.Asn316=) c.315A= c.73+874A= (n.73+874A=) | |
8 | g.118110101T>A | CA371914691 | EXT1 | c.946A>T (p.Asn316Tyr) c.314A>T c.73+873A>T (n.73+873A>T) | |
8 | g.118110101T>C | CA371914692 | EXT1 | c.946A>G (p.Asn316Asp) c.314A>G c.73+873A>G (n.73+873A>G) | gnomAD v4 |
8 | g.118110101T>G | CA371914693 | EXT1 | c.946A>C (p.Asn316His) c.314A>C c.73+873A>C (n.73+873A>C) | |
8 | g.118110102G>A | CA462471429 | EXT1 | c.945C>T (p.Asp315=) c.313C>T c.73+872C>T (n.73+872C>T) | dbSNP |
8 | g.118110102G>C | CA371914694 | EXT1 | c.945C>G (p.Asp315Glu) c.313C>G c.73+872C>G (n.73+872C>G) | |
8 | g.118110102G= | CA1814088357 | EXT1 | c.945C= (p.Asp315=) c.313C= c.73+872C= (n.73+872C=) | |
8 | g.118110102G>T | CA371914695 | EXT1 | c.945C>A (p.Asp315Glu) c.313C>A c.73+872C>A (n.73+872C>A) | |
8 | g.118110103T>A | CA371914698 | EXT1 | c.944A>T (p.Asp315Val) c.312A>T c.73+871A>T (n.73+871A>T) | |
8 | g.118110103T>C | CA371914697 | EXT1 | c.944A>G (p.Asp315Gly) c.312A>G c.73+871A>G (n.73+871A>G) | |
8 | g.118110103T>G | CA371914696 | EXT1 | c.944A>C (p.Asp315Ala) c.312A>C c.73+871A>C (n.73+871A>C) | |
8 | g.118110106_118110107del | CA2548052743 | EXT1 | c.943_944del (p.Asp315GlnfsTer5) c.311_312del c.73+870_73+871del (n.73+870_73+871del) | |
8 | g.118110104C>A | CA371914699 | EXT1 | c.943G>T (p.Asp315Tyr) c.311G>T c.73+870G>T (n.73+870G>T) | |
8 | g.118110104C= | CA1814088359 | EXT1 | c.943G= (p.Asp315=) c.311G= c.73+870G= (n.73+870G=) | |
8 | g.118110104C>G | CA371914700 | EXT1 | c.943G>C (p.Asp315His) c.311G>C c.73+870G>C (n.73+870G>C) | |
8 | g.118110104C>T | CA371914701 | EXT1 | c.943G>A (p.Asp315Asn) c.311G>A c.73+870G>A (n.73+870G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.118110105T>A | CA371914702 | EXT1 | c.942A>T (p.Arg314Ser) c.310A>T c.73+869A>T (n.73+869A>T) | |
8 | g.118110105T>C | CA462471431 | EXT1 | c.942A>G (p.Arg314=) c.310A>G c.73+869A>G (n.73+869A>G) | |
8 | g.118110105T>G | CA371914703 | EXT1 | c.942A>C (p.Arg314Ser) c.310A>C c.73+869A>C (n.73+869A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110105T= | CA1814088361 | EXT1 | c.942A= (p.Arg314=) c.310A= c.73+869A= (n.73+869A=) | |
8 | g.118110106C>A | CA371914704 | EXT1 | c.941G>T (p.Arg314Ile) c.309G>T c.73+868G>T (n.73+868G>T) | |
8 | g.118110106C>G | CA371914705 | EXT1 | c.941G>C (p.Arg314Thr) c.309G>C c.73+868G>C (n.73+868G>C) | dbSNP |
8 | g.118110106C>T | CA371914706 | EXT1 | c.941G>A (p.Arg314Lys) c.309G>A c.73+868G>A (n.73+868G>A) | |
8 | g.118110107T>A | CA371914707 | EXT1 | c.940A>T (p.Arg314Ter) c.308A>T c.73+867A>T (n.73+867A>T) | |
8 | g.118110107T>C | CA371914708 | EXT1 | c.940A>G (p.Arg314Gly) c.308A>G c.73+867A>G (n.73+867A>G) | |
8 | g.118110107T>G | CA462471432 | EXT1 | c.940A>C (p.Arg314=) c.308A>C c.73+867A>C (n.73+867A>C) | |
8 | g.118110108G>A | CA462471433 | EXT1 | c.939C>T (p.Asp313=) c.307C>T c.73+866C>T (n.73+866C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.118110108G>C | CA371914709 | EXT1 | c.939C>G (p.Asp313Glu) c.307C>G c.73+866C>G (n.73+866C>G) | gnomAD v4 |
8 | g.118110108G= | CA1814088364 | EXT1 | c.939C= (p.Asp313=) c.307C= c.73+866C= (n.73+866C=) | |
8 | g.118110108G>T | CA371914710 | EXT1 | c.939C>A (p.Asp313Glu) c.307C>A c.73+866C>A (n.73+866C>A) | |
8 | g.118110109T>A | CA371914713 | EXT1 | c.938A>T (p.Asp313Val) c.306A>T c.73+865A>T (n.73+865A>T) | |
8 | g.118110109T>C | CA371914711 | EXT1 | c.938A>G (p.Asp313Gly) c.306A>G c.73+865A>G (n.73+865A>G) | |
8 | g.118110109T>G | CA371914712 | EXT1 | c.938A>C (p.Asp313Ala) c.306A>C c.73+865A>C (n.73+865A>C) | |
8 | g.118110110C>A | CA371914714 | EXT1 | c.937G>T (p.Asp313Tyr) c.305G>T c.73+864G>T (n.73+864G>T) | |
8 | g.118110110C>G | CA371914715 | EXT1 | c.937G>C (p.Asp313His) c.305G>C c.73+864G>C (n.73+864G>C) | |
8 | g.118110110C>T | CA371914716 | EXT1 | c.937G>A (p.Asp313Asn) c.305G>A c.73+864G>A (n.73+864G>A) | |
8 | g.118110110_118110113delinsCACA | CA1814088366 | EXT1 | c.934_937delinsTGTG (p.Cys312=) c.302_305delinsTGTG c.73+861_73+864delinsTGTG (n.73+861_73+864delinsTGTG) | |
8 | g.118110111A>C | CA371914717 | EXT1 | c.936T>G (p.Cys312Trp) c.304T>G c.73+863T>G (n.73+863T>G) | |
8 | g.118110111A>G | CA462471434 | EXT1 | c.936T>C (p.Cys312=) c.304T>C c.73+863T>C (n.73+863T>C) | COSMIC |
8 | g.118110111A>T | CA371914718 | EXT1 | c.936T>A (p.Cys312Ter) c.304T>A c.73+863T>A (n.73+863T>A) | ClinVar dbSNP |
8 | g.118110111_118110113del | CA916081524 | EXT1 | c.934_936del (p.Cys312del) c.302_304del c.73+861_73+863del (n.73+861_73+863del) | ClinVar dbSNP |
8 | g.118110112_118110117del | CA645562741 | EXT1 | c.931_936del (p.Arg311_Cys312del) c.299_304del c.73+858_73+863del (n.73+858_73+863del) | COSMIC |
8 | g.118110112C>A | CA371914719 | EXT1 | c.935G>T (p.Cys312Phe) c.303G>T c.73+862G>T (n.73+862G>T) | |
8 | g.118110112C>G | CA371914720 | EXT1 | c.935G>C (p.Cys312Ser) c.303G>C c.73+862G>C (n.73+862G>C) | |
8 | g.118110112C>T | CA371914721 | EXT1 | c.935G>A (p.Cys312Tyr) c.303G>A c.73+862G>A (n.73+862G>A) | gnomAD v4 |
8 | g.118110113del | CA2695210133 | EXT1 | c.934del (p.Cys312ValfsTer?) c.302del c.73+861del (n.73+861del) | |
8 | g.118110113A= | CA1814088370 | EXT1 | c.934T= (p.Cys312=) c.302T= c.73+861T= (n.73+861T=) | |
8 | g.118110113A>C | CA371914722 | EXT1 | c.934T>G (p.Cys312Gly) c.302T>G c.73+861T>G (n.73+861T>G) | |
8 | g.118110113A>G | CA371914723 | EXT1 | c.934T>C (p.Cys312Arg) c.302T>C c.73+861T>C (n.73+861T>C) | ClinVar dbSNP |
8 | g.118110113A>T | CA371914724 | EXT1 | c.934T>A (p.Cys312Ser) c.302T>A c.73+861T>A (n.73+861T>A) | dbSNP |
8 | g.118110114G>A | CA4854300 | EXT1 | c.933C>T (p.Arg311=) c.301C>T c.73+860C>T (n.73+860C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.118110114G>C | CA462471437 | EXT1 | c.933C>G (p.Arg311=) c.301C>G c.73+860C>G (n.73+860C>G) | |
8 | g.118110114G= | CA1814088372 | EXT1 | c.933C= (p.Arg311=) c.301C= c.73+860C= (n.73+860C=) | |
8 | g.118110114G>T | CA462471438 | EXT1 | c.933C>A (p.Arg311=) c.301C>A c.73+860C>A (n.73+860C>A) | |
8 | g.118110115C>A | CA4854301 | EXT1 | c.932G>T (p.Arg311Leu) c.300G>T c.73+859G>T (n.73+859G>T) | dbSNP ExAC gnomAD v4 |
8 | g.118110115C= | CA1814088374 | EXT1 | c.932G= (p.Arg311=) c.300G= c.73+859G= (n.73+859G=) | |
8 | g.118110115C>G | CA371914726 | EXT1 | c.932G>C (p.Arg311Pro) c.300G>C c.73+859G>C (n.73+859G>C) | |
8 | g.118110115C>T | CA371914725 | EXT1 | c.932G>A (p.Arg311His) c.300G>A c.73+859G>A (n.73+859G>A) | |
8 | g.118110116G>A | CA371914729 | EXT1 | c.931C>T (p.Arg311Cys) c.299C>T c.73+858C>T (n.73+858C>T) | |
8 | g.118110116G>C | CA371914727 | EXT1 | c.931C>G (p.Arg311Gly) c.299C>G c.73+858C>G (n.73+858C>G) | |
8 | g.118110116G= | CA1814088375 | EXT1 | c.931C= (p.Arg311=) c.299C= c.73+858C= (n.73+858C=) | |
8 | g.118110116G>T | CA371914728 | EXT1 | c.931C>A (p.Arg311Ser) c.299C>A c.73+858C>A (n.73+858C>A) | dbSNP |
8 | g.118110117A>C | CA462471439 | EXT1 | c.930T>G (p.Ser310=) c.298T>G c.73+857T>G (n.73+857T>G) | |
8 | g.118110117A>G | CA462471440 | EXT1 | c.930T>C (p.Ser310=) c.298T>C c.73+857T>C (n.73+857T>C) | |
8 | g.118110117A>T | CA462471441 | EXT1 | c.930T>A (p.Ser310=) c.298T>A c.73+857T>A (n.73+857T>A) | |
8 | g.118110118G>A | CA184682397 | EXT1 | c.929C>T (p.Ser310Phe) c.297C>T c.73+856C>T (n.73+856C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.118110118G>C | CA371914730 | EXT1 | c.929C>G (p.Ser310Cys) c.297C>G c.73+856C>G (n.73+856C>G) | |
8 | g.118110118G= | CA1814088377 | EXT1 | c.929C= (p.Ser310=) c.297C= c.73+856C= (n.73+856C=) | |
8 | g.118110118G>T | CA371914731 | EXT1 | c.929C>A (p.Ser310Tyr) c.297C>A c.73+856C>A (n.73+856C>A) | |
8 | g.118110119A>C | CA371914732 | EXT1 | c.928T>G (p.Ser310Ala) c.296T>G c.73+855T>G (n.73+855T>G) | |
8 | g.118110119A>G | CA371914733 | EXT1 | c.928T>C (p.Ser310Pro) c.296T>C c.73+855T>C (n.73+855T>C) | |
8 | g.118110119A>T | CA371914734 | EXT1 | c.928T>A (p.Ser310Thr) c.296T>A c.73+855T>A (n.73+855T>A) | |
8 | g.118110120A>C | CA371914735 | EXT1 | c.927T>G (p.Asp309Glu) c.295T>G c.73+854T>G (n.73+854T>G) | |
8 | g.118110120A>G | CA462471442 | EXT1 | c.927T>C (p.Asp309=) c.295T>C c.73+854T>C (n.73+854T>C) | |
8 | g.118110120A>T | CA371914736 | EXT1 | c.927T>A (p.Asp309Glu) c.295T>A c.73+854T>A (n.73+854T>A) | |
8 | g.118110121T>A | CA371914737 | EXT1 | c.926A>T (p.Asp309Val) c.294A>T c.73+853A>T (n.73+853A>T) | |
8 | g.118110121T>C | CA371914738 | EXT1 | c.926A>G (p.Asp309Gly) c.294A>G c.73+853A>G (n.73+853A>G) | |
8 | g.118110121T>G | CA371914739 | EXT1 | c.926A>C (p.Asp309Ala) c.294A>C c.73+853A>C (n.73+853A>C) | |
8 | g.118110122C>A | CA371914740 | EXT1 | c.925G>T (p.Asp309Tyr) c.293G>T c.73+852G>T (n.73+852G>T) | |
8 | g.118110122C>G | CA371914742 | EXT1 | c.925G>C (p.Asp309His) c.293G>C c.73+852G>C (n.73+852G>C) | dbSNP gnomAD v4 |
8 | g.118110122C>T | CA371914741 | EXT1 | c.925G>A (p.Asp309Asn) c.293G>A c.73+852G>A (n.73+852G>A) | dbSNP |
8 | g.118110123C>A | CA371914743 | EXT1 | c.924G>T (p.Lys308Asn) c.292G>T c.73+851G>T (n.73+851G>T) | dbSNP COSMIC |
8 | g.118110123C= | CA1814088380 | EXT1 | c.924G= (p.Lys308=) c.292G= c.73+851G= (n.73+851G=) | |
8 | g.118110123C>G | CA371914744 | EXT1 | c.924G>C (p.Lys308Asn) c.292G>C c.73+851G>C (n.73+851G>C) | |
8 | g.118110123C>T | CA4854302 | EXT1 | c.924G>A (p.Lys308=) c.292G>A c.73+851G>A (n.73+851G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110124T>A | CA371914745 | EXT1 | c.923A>T (p.Lys308Met) c.291A>T c.73+850A>T (n.73+850A>T) | |
8 | g.118110124T>C | CA4854303 | EXT1 | c.923A>G (p.Lys308Arg) c.291A>G c.73+850A>G (n.73+850A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110124T>G | CA371914746 | EXT1 | c.923A>C (p.Lys308Thr) c.291A>C c.73+850A>C (n.73+850A>C) | gnomAD v4 |
8 | g.118110124T= | CA1814088382 | EXT1 | c.923A= (p.Lys308=) c.291A= c.73+850A= (n.73+850A=) | |
8 | g.118110125T>A | CA371914747 | EXT1 | c.922A>T (p.Lys308Ter) c.290A>T c.73+849A>T (n.73+849A>T) | |
8 | g.118110125T>C | CA371914748 | EXT1 | c.922A>G (p.Lys308Glu) c.290A>G c.73+849A>G (n.73+849A>G) | |
8 | g.118110125T>G | CA371914749 | EXT1 | c.922A>C (p.Lys308Gln) c.290A>C c.73+849A>C (n.73+849A>C) | gnomAD v4 |
8 | g.118110126G>A | CA462471443 | EXT1 | c.921C>T (p.His307=) c.289C>T c.73+848C>T (n.73+848C>T) | |
8 | g.118110126G>C | CA371914750 | EXT1 | c.921C>G (p.His307Gln) c.289C>G c.73+848C>G (n.73+848C>G) | |
8 | g.118110126G>T | CA371914751 | EXT1 | c.921C>A (p.His307Gln) c.289C>A c.73+848C>A (n.73+848C>A) | |
8 | g.118110127T>A | CA371914753 | EXT1 | c.920A>T (p.His307Leu) c.288A>T c.73+847A>T (n.73+847A>T) | |
8 | g.118110127T>C | CA371914754 | EXT1 | c.920A>G (p.His307Arg) c.288A>G c.73+847A>G (n.73+847A>G) | |
8 | g.118110127T>G | CA371914752 | EXT1 | c.920A>C (p.His307Pro) c.288A>C c.73+847A>C (n.73+847A>C) | gnomAD v4 |
8 | g.118110128G>A | CA371914755 | EXT1 | c.919C>T (p.His307Tyr) c.287C>T c.73+846C>T (n.73+846C>T) | gnomAD v4 |
8 | g.118110128G>C | CA371914756 | EXT1 | c.919C>G (p.His307Asp) c.287C>G c.73+846C>G (n.73+846C>G) | |
8 | g.118110128G>T | CA371914757 | EXT1 | c.919C>A (p.His307Asn) c.287C>A c.73+846C>A (n.73+846C>A) | |
8 | g.118110129del | CA2695210134 | EXT1 | c.918del (p.Lys306AsnfsTer?) c.286del c.73+845del (n.73+845del) | |
8 | g.118110129C>A | CA371914758 | EXT1 | c.918G>T (p.Lys306Asn) c.286G>T c.73+845G>T (n.73+845G>T) | ClinVar dbSNP |
8 | g.118110129C= | CA1814088384 | EXT1 | c.918G= (p.Lys306=) c.286G= c.73+845G= (n.73+845G=) | |
8 | g.118110129C>G | CA371914759 | EXT1 | c.918G>C (p.Lys306Asn) c.286G>C c.73+845G>C (n.73+845G>C) | |
8 | g.118110129C>T | CA184682400 | EXT1 | c.918G>A (p.Lys306=) c.286G>A c.73+845G>A (n.73+845G>A) | dbSNP gnomAD v4 |
8 | g.118110130T>A | CA371914760 | EXT1 | c.917A>T (p.Lys306Met) c.285A>T c.73+844A>T (n.73+844A>T) | |
8 | g.118110130T>C | CA371914761 | EXT1 | c.917A>G (p.Lys306Arg) c.285A>G c.73+844A>G (n.73+844A>G) | |
8 | g.118110130T>G | CA371914762 | EXT1 | c.917A>C (p.Lys306Thr) c.285A>C c.73+844A>C (n.73+844A>C) | |
8 | g.118110133dup | CA16618588 | EXT1 | c.917dup (p.His307AlafsTer7) c.285dup c.73+844dup (n.73+844dup) | ClinVar dbSNP |
8 | g.118110133del | CA2695210135 | EXT1 | c.917del (p.Lys306SerfsTer?) c.285del c.73+844del (n.73+844del) | |
8 | g.118110131T>A | CA371914763 | EXT1 | c.916A>T (p.Lys306Ter) c.284A>T c.73+843A>T (n.73+843A>T) | |
8 | g.118110131T>C | CA371914764 | EXT1 | c.916A>G (p.Lys306Glu) c.284A>G c.73+843A>G (n.73+843A>G) | |
8 | g.118110131T>G | CA371914765 | EXT1 | c.916A>C (p.Lys306Gln) c.284A>C c.73+843A>C (n.73+843A>C) | |
8 | g.118110132T>A | CA371914766 | EXT1 | c.915A>T (p.Gln305His) c.283A>T c.73+842A>T (n.73+842A>T) | |
8 | g.118110132T>C | CA462471444 | EXT1 | c.915A>G (p.Gln305=) c.283A>G c.73+842A>G (n.73+842A>G) | |
8 | g.118110132T>G | CA371914767 | EXT1 | c.915A>C (p.Gln305His) c.283A>C c.73+842A>C (n.73+842A>C) | |
8 | g.118110133T>A | CA371914770 | EXT1 | c.914A>T (p.Gln305Leu) c.282A>T c.73+841A>T (n.73+841A>T) | |
8 | g.118110133T>C | CA371914769 | EXT1 | c.914A>G (p.Gln305Arg) c.282A>G c.73+841A>G (n.73+841A>G) | ClinVar gnomAD v4 |
8 | g.118110133T>G | CA371914768 | EXT1 | c.914A>C (p.Gln305Pro) c.282A>C c.73+841A>C (n.73+841A>C) | |
8 | g.118110134G>A | CA371914771 | EXT1 | c.913C>T (p.Gln305Ter) c.281C>T c.73+840C>T (n.73+840C>T) | ClinVar dbSNP |
8 | g.118110134G>C | CA371914772 | EXT1 | c.913C>G (p.Gln305Glu) c.281C>G c.73+840C>G (n.73+840C>G) | |
8 | g.118110134G= | CA1814088388 | EXT1 | c.913C= (p.Gln305=) c.281C= c.73+840C= (n.73+840C=) | |
8 | g.118110134G>T | CA371914773 | EXT1 | c.913C>A (p.Gln305Lys) c.281C>A c.73+840C>A (n.73+840C>A) | gnomAD v4 |
8 | g.118110135C>A | CA371914774 | EXT1 | c.912G>T (p.Trp304Cys) c.280G>T c.73+839G>T (n.73+839G>T) | dbSNP |
8 | g.118110135C= | CA1814088394 | EXT1 | c.912G= (p.Trp304=) c.280G= c.73+839G= (n.73+839G=) | |
8 | g.118110135C>G | CA371914775 | EXT1 | c.912G>C (p.Trp304Cys) c.280G>C c.73+839G>C (n.73+839G>C) | |
8 | g.118110135C>T | CA371914776 | EXT1 | c.912G>A (p.Trp304Ter) c.280G>A c.73+839G>A (n.73+839G>A) | ClinVar dbSNP |
8 | g.118110136C>A | CA371914777 | EXT1 | c.911G>T (p.Trp304Leu) c.279G>T c.73+838G>T (n.73+838G>T) | dbSNP |
8 | g.118110136C>G | CA371914778 | EXT1 | c.911G>C (p.Trp304Ser) c.279G>C c.73+838G>C (n.73+838G>C) | |
8 | g.118110136C>T | CA371914779 | EXT1 | c.911G>A (p.Trp304Ter) c.279G>A c.73+838G>A (n.73+838G>A) | |
8 | g.118110137A= | CA1814088396 | EXT1 | c.910T= (p.Trp304=) c.278T= c.73+837T= (n.73+837T=) | |
8 | g.118110137A>C | CA371914780 | EXT1 | c.910T>G (p.Trp304Gly) c.278T>G c.73+837T>G (n.73+837T>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.118110137A>G | CA371914781 | EXT1 | c.910T>C (p.Trp304Arg) c.278T>C c.73+837T>C (n.73+837T>C) | |
8 | g.118110137A>T | CA371914782 | EXT1 | c.910T>A (p.Trp304Arg) c.278T>A c.73+837T>A (n.73+837T>A) | ClinVar dbSNP |
8 | g.118110138G>A | CA462471445 | EXT1 | c.909C>T (p.Asp303=) c.277C>T c.73+836C>T (n.73+836C>T) | |
8 | g.118110138G>C | CA371914783 | EXT1 | c.909C>G (p.Asp303Glu) c.277C>G c.73+836C>G (n.73+836C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118110138G= | CA1814088398 | EXT1 | c.909C= (p.Asp303=) c.277C= c.73+836C= (n.73+836C=) | |
8 | g.118110138G>T | CA371914784 | EXT1 | c.909C>A (p.Asp303Glu) c.277C>A c.73+836C>A (n.73+836C>A) | |
8 | g.118110139T>A | CA371914786 | EXT1 | c.908A>T (p.Asp303Val) c.276A>T c.73+835A>T (n.73+835A>T) | |
8 | g.118110139T>C | CA371914787 | EXT1 | c.908A>G (p.Asp303Gly) c.276A>G c.73+835A>G (n.73+835A>G) | |
8 | g.118110139T>G | CA371914785 | EXT1 | c.908A>C (p.Asp303Ala) c.276A>C c.73+835A>C (n.73+835A>C) | |
8 | g.118110140del | CA2573142820 | EXT1 | c.907del (p.Asp303ThrfsTer?) c.275del c.73+834del (n.73+834del) | ClinVar dbSNP |
8 | g.118110140C>A | CA371914789 | EXT1 | c.907G>T (p.Asp303Tyr) c.275G>T c.73+834G>T (n.73+834G>T) | gnomAD v4 |
8 | g.118110140C>G | CA371914788 | EXT1 | c.907G>C (p.Asp303His) c.275G>C c.73+834G>C (n.73+834G>C) | |
8 | g.118110140C>T | CA371914790 | EXT1 | c.907G>A (p.Asp303Asn) c.275G>A c.73+834G>A (n.73+834G>A) | gnomAD v4 |
8 | g.118110141T>A | CA371914791 | EXT1 | c.906A>T (p.Lys302Asn) c.274A>T c.73+833A>T (n.73+833A>T) | |
8 | g.118110141T>C | CA462645044 | EXT1 | c.906A>G (p.Lys302=) c.274A>G c.73+833A>G (n.73+833A>G) | |
8 | g.118110141T>G | CA371914792 | EXT1 | c.906A>C (p.Lys302Asn) c.274A>C c.73+833A>C (n.73+833A>C) | |
8 | g.118110143del | CA2695210136 | EXT1 | c.906del (p.Asp303ThrfsTer?) c.274del c.73+833del (n.73+833del) |