Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.74919570_74919596del | CA2639747027 | USH1G | c.1248_1274del (p.Glu416_Leu424del) c.*847_*873del (n.*847_*873del) c.939_965del (p.Glu313_Leu321del) | gnomAD v4 |
17 | g.74919594G>A | CA502036497 | USH1G | c.1242C>T (p.Asp414=) c.*841C>T (n.*841C>T) c.933C>T (p.Asp311=) | |
17 | g.74919594G>C | CA400961380 | USH1G | c.1242C>G (p.Asp414Glu) c.*841C>G (n.*841C>G) c.933C>G (p.Asp311Glu) | |
17 | g.74919594G>T | CA400961381 | USH1G | c.1242C>A (p.Asp414Glu) c.*841C>A (n.*841C>A) c.933C>A (p.Asp311Glu) | |
17 | g.74919595T>A | CA400961382 | USH1G | c.1241A>T (p.Asp414Val) c.*840A>T (n.*840A>T) c.932A>T (p.Asp311Val) | |
17 | g.74919595T>C | CA400961383 | USH1G | c.1241A>G (p.Asp414Gly) c.*840A>G (n.*840A>G) c.932A>G (p.Asp311Gly) | |
17 | g.74919595T>G | CA400961384 | USH1G | c.1241A>C (p.Asp414Ala) c.*840A>C (n.*840A>C) c.932A>C (p.Asp311Ala) | |
17 | g.74919596C>A | CA8753903 | USH1G | c.1240G>T (p.Asp414Tyr) c.*839G>T (n.*839G>T) c.931G>T (p.Asp311Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919596C= | CA2275255163 | USH1G | c.1240G= (p.Asp414=) c.*839G= (n.*839G=) c.931G= (p.Asp311=) | |
17 | g.74919596C>G | CA8753904 | USH1G | c.1240G>C (p.Asp414His) c.*839G>C (n.*839G>C) c.931G>C (p.Asp311His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919596C>T | CA400961385 | USH1G | c.1240G>A (p.Asp414Asn) c.*839G>A (n.*839G>A) c.931G>A (p.Asp311Asn) | |
17 | g.74919597G>A | CA502036501 | USH1G | c.1239C>T (p.Ile413=) c.*838C>T (n.*838C>T) c.930C>T (p.Ile310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919597G>C | CA8753905 | USH1G | c.1239C>G (p.Ile413Met) c.*838C>G (n.*838C>G) c.930C>G (p.Ile310Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919597G= | CA2275255164 | USH1G | c.1239C= (p.Ile413=) c.*838C= (n.*838C=) c.930C= (p.Ile310=) | |
17 | g.74919597G>T | CA502036504 | USH1G | c.1239C>A (p.Ile413=) c.*838C>A (n.*838C>A) c.930C>A (p.Ile310=) | |
17 | g.74919598A>C | CA400961386 | USH1G | c.1238T>G (p.Ile413Ser) c.*837T>G (n.*837T>G) c.929T>G (p.Ile310Ser) | |
17 | g.74919598A>G | CA400961388 | USH1G | c.1238T>C (p.Ile413Thr) c.*837T>C (n.*837T>C) c.929T>C (p.Ile310Thr) | |
17 | g.74919598A>T | CA400961387 | USH1G | c.1238T>A (p.Ile413Asn) c.*837T>A (n.*837T>A) c.929T>A (p.Ile310Asn) | |
17 | g.74919599T>A | CA400961389 | USH1G | c.1237A>T (p.Ile413Phe) c.*836A>T (n.*836A>T) c.928A>T (p.Ile310Phe) | |
17 | g.74919599T>C | CA400961391 | USH1G | c.1237A>G (p.Ile413Val) c.*836A>G (n.*836A>G) c.928A>G (p.Ile310Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919599T>G | CA400961390 | USH1G | c.1237A>C (p.Ile413Leu) c.*836A>C (n.*836A>C) c.928A>C (p.Ile310Leu) | |
17 | g.74919599T= | CA2275255165 | USH1G | c.1237A= (p.Ile413=) c.*836A= (n.*836A=) c.928A= (p.Ile310=) | |
17 | g.74919602_74919604del | CA2576383325 | USH1G | c.1235_1237del (p.Lys412del) c.*834_*836del (n.*834_*836del) c.926_928del (p.Lys309del) | |
17 | g.74919601_74919605dup | CA2639747074 | USH1G | c.1233_1237dup (p.Ile413ArgfsTer8) c.*832_*836dup (n.*832_*836dup) c.924_928dup (p.Ile310ArgfsTer8) | gnomAD v4 |
17 | g.74919600C>A | CA400961392 | USH1G | c.1236G>T (p.Lys412Asn) c.*835G>T (n.*835G>T) c.927G>T (p.Lys309Asn) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919600C= | CA2275255166 | USH1G | c.1236G= (p.Lys412=) c.*835G= (n.*835G=) c.927G= (p.Lys309=) | |
17 | g.74919600C>G | CA400961393 | USH1G | c.1236G>C (p.Lys412Asn) c.*835G>C (n.*835G>C) c.927G>C (p.Lys309Asn) | |
17 | g.74919600C>T | CA502036511 | USH1G | c.1236G>A (p.Lys412=) c.*835G>A (n.*835G>A) c.927G>A (p.Lys309=) | gnomAD v4 |
17 | g.74919601T>A | CA400961394 | USH1G | c.1235A>T (p.Lys412Met) c.*834A>T (n.*834A>T) c.926A>T (p.Lys309Met) | |
17 | g.74919601T>C | CA400961396 | USH1G | c.1235A>G (p.Lys412Arg) c.*834A>G (n.*834A>G) c.926A>G (p.Lys309Arg) | |
17 | g.74919601T>G | CA400961395 | USH1G | c.1235A>C (p.Lys412Thr) c.*834A>C (n.*834A>C) c.926A>C (p.Lys309Thr) | ClinVar |
17 | g.74919602T>A | CA400961397 | USH1G | c.1234A>T (p.Lys412Ter) c.*833A>T (n.*833A>T) c.925A>T (p.Lys309Ter) | |
17 | g.74919602T>C | CA400961398 | USH1G | c.1234A>G (p.Lys412Glu) c.*833A>G (n.*833A>G) c.925A>G (p.Lys309Glu) | |
17 | g.74919602T>G | CA400961399 | USH1G | c.1234A>C (p.Lys412Gln) c.*833A>C (n.*833A>C) c.925A>C (p.Lys309Gln) | |
17 | g.74919602_74919605delinsTCTC | CA2275255167 | USH1G | c.1231_1234delinsGAGA (p.Glu411=) c.*830_*833delinsGAGA (n.*830_*833delinsGAGA) c.922_925delinsGAGA (p.Glu308=) | |
17 | g.74919603C>A | CA400961400 | USH1G | c.1233G>T (p.Glu411Asp) c.*832G>T (n.*832G>T) c.924G>T (p.Glu308Asp) | |
17 | g.74919603C>G | CA400961401 | USH1G | c.1233G>C (p.Glu411Asp) c.*832G>C (n.*832G>C) c.924G>C (p.Glu308Asp) | gnomAD v4 |
17 | g.74919603C>T | CA502036516 | USH1G | c.1233G>A (p.Glu411=) c.*832G>A (n.*832G>A) c.924G>A (p.Glu308=) | |
17 | g.74919605_74919607del | CA8753906 | USH1G | c.1231_1233del (p.Glu411del) c.*830_*832del (n.*830_*832del) c.922_924del (p.Glu308del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919604T>A | CA400961402 | USH1G | c.1232A>T (p.Glu411Val) c.*831A>T (n.*831A>T) c.923A>T (p.Glu308Val) | |
17 | g.74919604T>C | CA8753907 | USH1G | c.1232A>G (p.Glu411Gly) c.*831A>G (n.*831A>G) c.923A>G (p.Glu308Gly) | dbSNP ExAC gnomAD v2 |
17 | g.74919604T>G | CA400961403 | USH1G | c.1232A>C (p.Glu411Ala) c.*831A>C (n.*831A>C) c.923A>C (p.Glu308Ala) | |
17 | g.74919604T= | CA2275255168 | USH1G | c.1232A= (p.Glu411=) c.*831A= (n.*831A=) c.923A= (p.Glu308=) | |
17 | g.74919605C>A | CA400961404 | USH1G | c.1231G>T (p.Glu411Ter) c.*830G>T (n.*830G>T) c.922G>T (p.Glu308Ter) | |
17 | g.74919605C= | CA2275255169 | USH1G | c.1231G= (p.Glu411=) c.*830G= (n.*830G=) c.922G= (p.Glu308=) | |
17 | g.74919605C>G | CA400961405 | USH1G | c.1231G>C (p.Glu411Gln) c.*830G>C (n.*830G>C) c.922G>C (p.Glu308Gln) | |
17 | g.74919605C>T | CA400961406 | USH1G | c.1231G>A (p.Glu411Lys) c.*830G>A (n.*830G>A) c.922G>A (p.Glu308Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919606C>A | CA400961407 | USH1G | c.1230G>T (p.Gln410His) c.*829G>T (n.*829G>T) c.921G>T (p.Gln307His) | |
17 | g.74919606C= | CA2275255170 | USH1G | c.1230G= (p.Gln410=) c.*829G= (n.*829G=) c.921G= (p.Gln307=) | |
17 | g.74919606C>G | CA400961408 | USH1G | c.1230G>C (p.Gln410His) c.*829G>C (n.*829G>C) c.921G>C (p.Gln307His) | |
17 | g.74919606C>T | CA8753908 | USH1G | c.1230G>A (p.Gln410=) c.*829G>A (n.*829G>A) c.921G>A (p.Gln307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919607T>A | CA400961409 | USH1G | c.1229A>T (p.Gln410Leu) c.*828A>T (n.*828A>T) c.920A>T (p.Gln307Leu) | |
17 | g.74919607T>C | CA400961410 | USH1G | c.1229A>G (p.Gln410Arg) c.*828A>G (n.*828A>G) c.920A>G (p.Gln307Arg) | gnomAD v4 |
17 | g.74919607T>G | CA400961411 | USH1G | c.1229A>C (p.Gln410Pro) c.*828A>C (n.*828A>C) c.920A>C (p.Gln307Pro) | |
17 | g.74919608G>A | CA400961412 | USH1G | c.1228C>T (p.Gln410Ter) c.*827C>T (n.*827C>T) c.919C>T (p.Gln307Ter) | |
17 | g.74919608G>C | CA400961413 | USH1G | c.1228C>G (p.Gln410Glu) c.*827C>G (n.*827C>G) c.919C>G (p.Gln307Glu) | |
17 | g.74919608G>T | CA400961414 | USH1G | c.1228C>A (p.Gln410Lys) c.*827C>A (n.*827C>A) c.919C>A (p.Gln307Lys) | |
17 | g.74919609C>A | CA502036529 | USH1G | c.1227G>T (p.Arg409=) c.*826G>T (n.*826G>T) c.918G>T (p.Arg306=) | |
17 | g.74919609C= | CA2275255171 | USH1G | c.1227G= (p.Arg409=) c.*826G= (n.*826G=) c.918G= (p.Arg306=) | |
17 | g.74919609C>G | CA502036530 | USH1G | c.1227G>C (p.Arg409=) c.*826G>C (n.*826G>C) c.918G>C (p.Arg306=) | |
17 | g.74919609C>T | CA502036531 | USH1G | c.1227G>A (p.Arg409=) c.*826G>A (n.*826G>A) c.918G>A (p.Arg306=) | dbSNP gnomAD v2 |
17 | g.74919610C>A | CA400961415 | USH1G | c.1226G>T (p.Arg409Leu) c.*825G>T (n.*825G>T) c.917G>T (p.Arg306Leu) | dbSNP |
17 | g.74919610C= | CA2275255172 | USH1G | c.1226G= (p.Arg409=) c.*825G= (n.*825G=) c.917G= (p.Arg306=) | |
17 | g.74919610C>G | CA400961416 | USH1G | c.1226G>C (p.Arg409Pro) c.*825G>C (n.*825G>C) c.917G>C (p.Arg306Pro) | gnomAD v4 |
17 | g.74919610C>T | CA400961417 | USH1G | c.1226G>A (p.Arg409Gln) c.*825G>A (n.*825G>A) c.917G>A (p.Arg306Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919611G>A | CA8753910 | USH1G | c.1225C>T (p.Arg409Trp) c.*824C>T (n.*824C>T) c.916C>T (p.Arg306Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919611G>C | CA8753909 | USH1G | c.1225C>G (p.Arg409Gly) c.*824C>G (n.*824C>G) c.916C>G (p.Arg306Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919611G= | CA2275255173 | USH1G | c.1225C= (p.Arg409=) c.*824C= (n.*824C=) c.916C= (p.Arg306=) | |
17 | g.74919611G>T | CA502036538 | USH1G | c.1225C>A (p.Arg409=) c.*824C>A (n.*824C>A) c.916C>A (p.Arg306=) | |
17 | g.74919612C>A | CA502036539 | USH1G | c.1224G>T (p.Leu408=) c.*823G>T (n.*823G>T) c.915G>T (p.Leu305=) | |
17 | g.74919612C>G | CA502036540 | USH1G | c.1224G>C (p.Leu408=) c.*823G>C (n.*823G>C) c.915G>C (p.Leu305=) | |
17 | g.74919612C>T | CA502036541 | USH1G | c.1224G>A (p.Leu408=) c.*823G>A (n.*823G>A) c.915G>A (p.Leu305=) | |
17 | g.74919613A>C | CA400961418 | USH1G | c.1223T>G (p.Leu408Arg) c.*822T>G (n.*822T>G) c.914T>G (p.Leu305Arg) | |
17 | g.74919613A>G | CA400961419 | USH1G | c.1223T>C (p.Leu408Pro) c.*822T>C (n.*822T>C) c.914T>C (p.Leu305Pro) | |
17 | g.74919613A>T | CA400961420 | USH1G | c.1223T>A (p.Leu408Gln) c.*822T>A (n.*822T>A) c.914T>A (p.Leu305Gln) | |
17 | g.74919614G>A | CA502036545 | USH1G | c.1222C>T (p.Leu408=) c.*821C>T (n.*821C>T) c.913C>T (p.Leu305=) | |
17 | g.74919614G>C | CA400961421 | USH1G | c.1222C>G (p.Leu408Val) c.*821C>G (n.*821C>G) c.913C>G (p.Leu305Val) | |
17 | g.74919614G>T | CA400961422 | USH1G | c.1222C>A (p.Leu408Met) c.*821C>A (n.*821C>A) c.913C>A (p.Leu305Met) | |
17 | g.74919615G>A | CA502036547 | USH1G | c.1221C>T (p.Leu407=) c.*820C>T (n.*820C>T) c.912C>T (p.Leu304=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919615G>C | CA8753911 | USH1G | c.1221C>G (p.Leu407=) c.*820C>G (n.*820C>G) c.912C>G (p.Leu304=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.74919615G= | CA2275255174 | USH1G | c.1221C= (p.Leu407=) c.*820C= (n.*820C=) c.912C= (p.Leu304=) | |
17 | g.74919615G>T | CA502036548 | USH1G | c.1221C>A (p.Leu407=) c.*820C>A (n.*820C>A) c.912C>A (p.Leu304=) | gnomAD v4 |
17 | g.74919616A= | CA2275255175 | USH1G | c.1220T= (p.Leu407=) c.*819T= (n.*819T=) c.911T= (p.Leu304=) | |
17 | g.74919616A>C | CA400961423 | USH1G | c.1220T>G (p.Leu407Arg) c.*819T>G (n.*819T>G) c.911T>G (p.Leu304Arg) | ClinVar dbSNP |
17 | g.74919616A>G | CA400961424 | USH1G | c.1220T>C (p.Leu407Pro) c.*819T>C (n.*819T>C) c.911T>C (p.Leu304Pro) | |
17 | g.74919616A>T | CA400961425 | USH1G | c.1220T>A (p.Leu407His) c.*819T>A (n.*819T>A) c.911T>A (p.Leu304His) | |
17 | g.74919617G>A | CA400961426 | USH1G | c.1219C>T (p.Leu407Phe) c.*818C>T (n.*818C>T) c.910C>T (p.Leu304Phe) | ClinVar dbSNP |
17 | g.74919617G>C | CA400961427 | USH1G | c.1219C>G (p.Leu407Val) c.*818C>G (n.*818C>G) c.910C>G (p.Leu304Val) | dbSNP gnomAD v4 |
17 | g.74919617G= | CA2275255176 | USH1G | c.1219C= (p.Leu407=) c.*818C= (n.*818C=) c.910C= (p.Leu304=) | |
17 | g.74919617G>T | CA400961428 | USH1G | c.1219C>A (p.Leu407Ile) c.*818C>A (n.*818C>A) c.910C>A (p.Leu304Ile) | |
17 | g.74919618G>A | CA502036553 | USH1G | c.1218C>T (p.Ala406=) c.*817C>T (n.*817C>T) c.909C>T (p.Ala303=) | ClinVar gnomAD v4 |
17 | g.74919618G>C | CA502036555 | USH1G | c.1218C>G (p.Ala406=) c.*817C>G (n.*817C>G) c.909C>G (p.Ala303=) | |
17 | g.74919618G>T | CA502036557 | USH1G | c.1218C>A (p.Ala406=) c.*817C>A (n.*817C>A) c.909C>A (p.Ala303=) | gnomAD v4 |
17 | g.74919619G>A | CA400961431 | USH1G | c.1217C>T (p.Ala406Val) c.*816C>T (n.*816C>T) c.908C>T (p.Ala303Val) | |
17 | g.74919619G>C | CA400961429 | USH1G | c.1217C>G (p.Ala406Gly) c.*816C>G (n.*816C>G) c.908C>G (p.Ala303Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919619G= | CA2275255177 | USH1G | c.1217C= (p.Ala406=) c.*816C= (n.*816C=) c.908C= (p.Ala303=) | |
17 | g.74919619G>T | CA400961430 | USH1G | c.1217C>A (p.Ala406Asp) c.*816C>A (n.*816C>A) c.908C>A (p.Ala303Asp) | |
17 | g.74919620C>A | CA400961432 | USH1G | c.1216G>T (p.Ala406Ser) c.*815G>T (n.*815G>T) c.907G>T (p.Ala303Ser) | |
17 | g.74919620C= | CA2275255178 | USH1G | c.1216G= (p.Ala406=) c.*815G= (n.*815G=) c.907G= (p.Ala303=) | |
17 | g.74919620C>G | CA400961433 | USH1G | c.1216G>C (p.Ala406Pro) c.*815G>C (n.*815G>C) c.907G>C (p.Ala303Pro) | |
17 | g.74919620C>T | CA400961434 | USH1G | c.1216G>A (p.Ala406Thr) c.*815G>A (n.*815G>A) c.907G>A (p.Ala303Thr) | dbSNP |
17 | g.74919621G>A | CA8753912 | USH1G | c.1215C>T (p.Ala405=) c.*814C>T (n.*814C>T) c.906C>T (p.Ala302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919621G>C | CA502036564 | USH1G | c.1215C>G (p.Ala405=) c.*814C>G (n.*814C>G) c.906C>G (p.Ala302=) | |
17 | g.74919621G= | CA2275255179 | USH1G | c.1215C= (p.Ala405=) c.*814C= (n.*814C=) c.906C= (p.Ala302=) | |
17 | g.74919621G>T | CA502036565 | USH1G | c.1215C>A (p.Ala405=) c.*814C>A (n.*814C>A) c.906C>A (p.Ala302=) | |
17 | g.74919622G>A | CA293983510 | USH1G | c.1214C>T (p.Ala405Val) c.*813C>T (n.*813C>T) c.905C>T (p.Ala302Val) | dbSNP |
17 | g.74919622G>C | CA400961435 | USH1G | c.1214C>G (p.Ala405Gly) c.*813C>G (n.*813C>G) c.905C>G (p.Ala302Gly) | |
17 | g.74919622G= | CA2275255180 | USH1G | c.1214C= (p.Ala405=) c.*813C= (n.*813C=) c.905C= (p.Ala302=) | |
17 | g.74919622G>T | CA400961436 | USH1G | c.1214C>A (p.Ala405Asp) c.*813C>A (n.*813C>A) c.905C>A (p.Ala302Asp) | |
17 | g.74919623C>A | CA400961437 | USH1G | c.1213G>T (p.Ala405Ser) c.*812G>T (n.*812G>T) c.904G>T (p.Ala302Ser) | |
17 | g.74919623C>G | CA400961438 | USH1G | c.1213G>C (p.Ala405Pro) c.*812G>C (n.*812G>C) c.904G>C (p.Ala302Pro) | |
17 | g.74919623C>T | CA400961439 | USH1G | c.1213G>A (p.Ala405Thr) c.*812G>A (n.*812G>A) c.904G>A (p.Ala302Thr) | |
17 | g.74919624A>C | CA400961440 | USH1G | c.1212T>G (p.Phe404Leu) c.*811T>G (n.*811T>G) c.903T>G (p.Phe301Leu) | |
17 | g.74919624A>G | CA502036572 | USH1G | c.1212T>C (p.Phe404=) c.*811T>C (n.*811T>C) c.903T>C (p.Phe301=) | gnomAD v4 |
17 | g.74919624A>T | CA400961441 | USH1G | c.1212T>A (p.Phe404Leu) c.*811T>A (n.*811T>A) c.903T>A (p.Phe301Leu) | |
17 | g.74919625A>C | CA400961443 | USH1G | c.1211T>G (p.Phe404Cys) c.*810T>G (n.*810T>G) c.902T>G (p.Phe301Cys) | |
17 | g.74919625A>G | CA400961444 | USH1G | c.1211T>C (p.Phe404Ser) c.*810T>C (n.*810T>C) c.902T>C (p.Phe301Ser) | |
17 | g.74919625A>T | CA400961442 | USH1G | c.1211T>A (p.Phe404Tyr) c.*810T>A (n.*810T>A) c.902T>A (p.Phe301Tyr) | |
17 | g.74919626A>C | CA400961447 | USH1G | c.1210T>G (p.Phe404Val) c.*809T>G (n.*809T>G) c.901T>G (p.Phe301Val) | |
17 | g.74919626A>G | CA400961445 | USH1G | c.1210T>C (p.Phe404Leu) c.*809T>C (n.*809T>C) c.901T>C (p.Phe301Leu) | |
17 | g.74919626A>T | CA400961446 | USH1G | c.1210T>A (p.Phe404Ile) c.*809T>A (n.*809T>A) c.901T>A (p.Phe301Ile) | |
17 | g.74919627G>A | CA502036577 | USH1G | c.1209C>T (p.Asp403=) c.*808C>T (n.*808C>T) c.900C>T (p.Asp300=) | |
17 | g.74919627G>C | CA400961448 | USH1G | c.1209C>G (p.Asp403Glu) c.*808C>G (n.*808C>G) c.900C>G (p.Asp300Glu) | |
17 | g.74919627G>T | CA400961449 | USH1G | c.1209C>A (p.Asp403Glu) c.*808C>A (n.*808C>A) c.900C>A (p.Asp300Glu) | |
17 | g.74919628T>A | CA400961450 | USH1G | c.1208A>T (p.Asp403Val) c.*807A>T (n.*807A>T) c.899A>T (p.Asp300Val) | |
17 | g.74919628T>C | CA293983513 | USH1G | c.1208A>G (p.Asp403Gly) c.*807A>G (n.*807A>G) c.899A>G (p.Asp300Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919628T>G | CA400961451 | USH1G | c.1208A>C (p.Asp403Ala) c.*807A>C (n.*807A>C) c.899A>C (p.Asp300Ala) | |
17 | g.74919628T= | CA2275255181 | USH1G | c.1208A= (p.Asp403=) c.*807A= (n.*807A=) c.899A= (p.Asp300=) | |
17 | g.74919629C>A | CA400961452 | USH1G | c.1207G>T (p.Asp403Tyr) c.*806G>T (n.*806G>T) c.898G>T (p.Asp300Tyr) | |
17 | g.74919629C= | CA2275255182 | USH1G | c.1207G= (p.Asp403=) c.*806G= (n.*806G=) c.898G= (p.Asp300=) | |
17 | g.74919629C>G | CA400961453 | USH1G | c.1207G>C (p.Asp403His) c.*806G>C (n.*806G>C) c.898G>C (p.Asp300His) | |
17 | g.74919629C>T | CA8753913 | USH1G | c.1207G>A (p.Asp403Asn) c.*806G>A (n.*806G>A) c.898G>A (p.Asp300Asn) | dbSNP ExAC gnomAD v2 |
17 | g.74919630C>A | CA400961454 | USH1G | c.1206G>T (p.Glu402Asp) c.*805G>T (n.*805G>T) c.897G>T (p.Glu299Asp) | |
17 | g.74919630C= | CA2275255183 | USH1G | c.1206G= (p.Glu402=) c.*805G= (n.*805G=) c.897G= (p.Glu299=) | |
17 | g.74919630C>G | CA400961455 | USH1G | c.1206G>C (p.Glu402Asp) c.*805G>C (n.*805G>C) c.897G>C (p.Glu299Asp) | |
17 | g.74919630C>T | CA8753914 | USH1G | c.1206G>A (p.Glu402=) c.*805G>A (n.*805G>A) c.897G>A (p.Glu299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919631T>A | CA400961458 | USH1G | c.1205A>T (p.Glu402Val) c.*804A>T (n.*804A>T) c.896A>T (p.Glu299Val) | |
17 | g.74919631T>C | CA400961456 | USH1G | c.1205A>G (p.Glu402Gly) c.*804A>G (n.*804A>G) c.896A>G (p.Glu299Gly) | |
17 | g.74919631T>G | CA400961457 | USH1G | c.1205A>C (p.Glu402Ala) c.*804A>C (n.*804A>C) c.896A>C (p.Glu299Ala) | |
17 | g.74919632C>A | CA400961459 | USH1G | c.1204G>T (p.Glu402Ter) c.*803G>T (n.*803G>T) c.895G>T (p.Glu299Ter) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919632C= | CA2275255184 | USH1G | c.1204G= (p.Glu402=) c.*803G= (n.*803G=) c.895G= (p.Glu299=) | |
17 | g.74919632C>G | CA400961460 | USH1G | c.1204G>C (p.Glu402Gln) c.*803G>C (n.*803G>C) c.895G>C (p.Glu299Gln) | |
17 | g.74919632C>T | CA400961461 | USH1G | c.1204G>A (p.Glu402Lys) c.*803G>A (n.*803G>A) c.895G>A (p.Glu299Lys) | COSMIC |
17 | g.74919633C>A | CA400961462 | USH1G | c.1203G>T (p.Met401Ile) c.*802G>T (n.*802G>T) c.894G>T (p.Met298Ile) | |
17 | g.74919633C= | CA2275255185 | USH1G | c.1203G= (p.Met401=) c.*802G= (n.*802G=) c.894G= (p.Met298=) | |
17 | g.74919633C>G | CA400961463 | USH1G | c.1203G>C (p.Met401Ile) c.*802G>C (n.*802G>C) c.894G>C (p.Met298Ile) | |
17 | g.74919633C>T | CA8753915 | USH1G | c.1203G>A (p.Met401Ile) c.*802G>A (n.*802G>A) c.894G>A (p.Met298Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919634A= | CA2275255186 | USH1G | c.1202T= (p.Met401=) c.*801T= (n.*801T=) c.893T= (p.Met298=) | |
17 | g.74919634A>C | CA400961464 | USH1G | c.1202T>G (p.Met401Arg) c.*801T>G (n.*801T>G) c.893T>G (p.Met298Arg) | |
17 | g.74919634A>G | CA8753916 | USH1G | c.1202T>C (p.Met401Thr) c.*801T>C (n.*801T>C) c.893T>C (p.Met298Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919634A>T | CA400961465 | USH1G | c.1202T>A (p.Met401Lys) c.*801T>A (n.*801T>A) c.893T>A (p.Met298Lys) | |
17 | g.74919635T>A | CA400961466 | USH1G | c.1201A>T (p.Met401Leu) c.*800A>T (n.*800A>T) c.892A>T (p.Met298Leu) | gnomAD v4 |
17 | g.74919635T>C | CA293983547 | USH1G | c.1201A>G (p.Met401Val) c.*800A>G (n.*800A>G) c.892A>G (p.Met298Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919635T>G | CA400961467 | USH1G | c.1201A>C (p.Met401Leu) c.*800A>C (n.*800A>C) c.892A>C (p.Met298Leu) | gnomAD v4 |
17 | g.74919635T= | CA2275255187 | USH1G | c.1201A= (p.Met401=) c.*800A= (n.*800A=) c.892A= (p.Met298=) | |
17 | g.74919636G>A | CA502036593 | USH1G | c.1200C>T (p.His400=) c.*799C>T (n.*799C>T) c.891C>T (p.His297=) | ClinVar dbSNP |
17 | g.74919636G>C | CA400961468 | USH1G | c.1200C>G (p.His400Gln) c.*799C>G (n.*799C>G) c.891C>G (p.His297Gln) | |
17 | g.74919636G>T | CA400961469 | USH1G | c.1200C>A (p.His400Gln) c.*799C>A (n.*799C>A) c.891C>A (p.His297Gln) | |
17 | g.74919637T>A | CA400961470 | USH1G | c.1199A>T (p.His400Leu) c.*798A>T (n.*798A>T) c.890A>T (p.His297Leu) | |
17 | g.74919637T>C | CA8753917 | USH1G | c.1199A>G (p.His400Arg) c.*798A>G (n.*798A>G) c.890A>G (p.His297Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919637T>G | CA400961471 | USH1G | c.1199A>C (p.His400Pro) c.*798A>C (n.*798A>C) c.890A>C (p.His297Pro) | |
17 | g.74919637T= | CA2275255188 | USH1G | c.1199A= (p.His400=) c.*798A= (n.*798A=) c.890A= (p.His297=) | |
17 | g.74919638G>A | CA400961472 | USH1G | c.1198C>T (p.His400Tyr) c.*797C>T (n.*797C>T) c.889C>T (p.His297Tyr) | gnomAD v4 |
17 | g.74919638G>C | CA400961473 | USH1G | c.1198C>G (p.His400Asp) c.*797C>G (n.*797C>G) c.889C>G (p.His297Asp) | |
17 | g.74919638G>T | CA400961474 | USH1G | c.1198C>A (p.His400Asn) c.*797C>A (n.*797C>A) c.889C>A (p.His297Asn) | |
17 | g.74919639C>A | CA502036596 | USH1G | c.1197G>T (p.Leu399=) c.*796G>T (n.*796G>T) c.888G>T (p.Leu296=) | |
17 | g.74919639C>G | CA502036597 | USH1G | c.1197G>C (p.Leu399=) c.*796G>C (n.*796G>C) c.888G>C (p.Leu296=) | |
17 | g.74919639C>T | CA502036598 | USH1G | c.1197G>A (p.Leu399=) c.*796G>A (n.*796G>A) c.888G>A (p.Leu296=) | |
17 | g.74919639_74919641delinsCAG | CA2275255189 | USH1G | c.1195_1197delinsCTG (p.Leu399=) c.*794_*796delinsCTG (n.*794_*796delinsCTG) c.886_888delinsCTG (p.Leu296=) | |
17 | g.74919640A>C | CA400961477 | USH1G | c.1196T>G (p.Leu399Arg) c.*795T>G (n.*795T>G) c.887T>G (p.Leu296Arg) | |
17 | g.74919640A>G | CA400961475 | USH1G | c.1196T>C (p.Leu399Pro) c.*795T>C (n.*795T>C) c.887T>C (p.Leu296Pro) | dbSNP |
17 | g.74919640A>T | CA400961476 | USH1G | c.1196T>A (p.Leu399Gln) c.*795T>A (n.*795T>A) c.887T>A (p.Leu296Gln) | |
17 | g.74919644_74919645del | CA986277536 | USH1G | c.1195_1196del (p.Leu399AlafsTer24) c.*794_*795del (n.*794_*795del) c.886_887del (p.Leu296AlafsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919641G>A | CA502036600 | USH1G | c.1195C>T (p.Leu399=) c.*794C>T (n.*794C>T) c.886C>T (p.Leu296=) | gnomAD v4 |
17 | g.74919641G>C | CA400961478 | USH1G | c.1195C>G (p.Leu399Val) c.*794C>G (n.*794C>G) c.886C>G (p.Leu296Val) | |
17 | g.74919641G>T | CA400961479 | USH1G | c.1195C>A (p.Leu399Met) c.*794C>A (n.*794C>A) c.886C>A (p.Leu296Met) | |
17 | g.74919642A>C | CA502036601 | USH1G | c.1194T>G (p.Ser398=) c.*793T>G (n.*793T>G) c.885T>G (p.Ser295=) | |
17 | g.74919642A>G | CA502036602 | USH1G | c.1194T>C (p.Ser398=) c.*793T>C (n.*793T>C) c.885T>C (p.Ser295=) | |
17 | g.74919642A>T | CA502036604 | USH1G | c.1194T>A (p.Ser398=) c.*793T>A (n.*793T>A) c.885T>A (p.Ser295=) | |
17 | g.74919643G>A | CA400961480 | USH1G | c.1193C>T (p.Ser398Phe) c.*792C>T (n.*792C>T) c.884C>T (p.Ser295Phe) | gnomAD v4 |
17 | g.74919643G>C | CA400961481 | USH1G | c.1193C>G (p.Ser398Cys) c.*792C>G (n.*792C>G) c.884C>G (p.Ser295Cys) | gnomAD v4 |
17 | g.74919643G>T | CA400961482 | USH1G | c.1193C>A (p.Ser398Tyr) c.*792C>A (n.*792C>A) c.884C>A (p.Ser295Tyr) | |
17 | g.74919644A>C | CA400961483 | USH1G | c.1192T>G (p.Ser398Ala) c.*791T>G (n.*791T>G) c.883T>G (p.Ser295Ala) | |
17 | g.74919644A>G | CA400961485 | USH1G | c.1192T>C (p.Ser398Pro) c.*791T>C (n.*791T>C) c.883T>C (p.Ser295Pro) | |
17 | g.74919644A>T | CA400961484 | USH1G | c.1192T>A (p.Ser398Thr) c.*791T>A (n.*791T>A) c.883T>A (p.Ser295Thr) | |
17 | g.74919645G>A | CA293983551 | USH1G | c.1191C>T (p.Ala397=) c.*790C>T (n.*790C>T) c.882C>T (p.Ala294=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919645G>C | CA502036609 | USH1G | c.1191C>G (p.Ala397=) c.*790C>G (n.*790C>G) c.882C>G (p.Ala294=) | |
17 | g.74919645G= | CA2275255190 | USH1G | c.1191C= (p.Ala397=) c.*790C= (n.*790C=) c.882C= (p.Ala294=) | |
17 | g.74919645G>T | CA502036608 | USH1G | c.1191C>A (p.Ala397=) c.*790C>A (n.*790C>A) c.882C>A (p.Ala294=) | |
17 | g.74919646G>A | CA400961486 | USH1G | c.1190C>T (p.Ala397Val) c.*789C>T (n.*789C>T) c.881C>T (p.Ala294Val) | dbSNP |
17 | g.74919646G>C | CA400961487 | USH1G | c.1190C>G (p.Ala397Gly) c.*789C>G (n.*789C>G) c.881C>G (p.Ala294Gly) | |
17 | g.74919646G= | CA2275255191 | USH1G | c.1190C= (p.Ala397=) c.*789C= (n.*789C=) c.881C= (p.Ala294=) | |
17 | g.74919646G>T | CA400961488 | USH1G | c.1190C>A (p.Ala397Asp) c.*789C>A (n.*789C>A) c.881C>A (p.Ala294Asp) | |
17 | g.74919646_74919648del | CA1139655064 | USH1G | c.1188_1190del (p.Ala397del) c.*787_*789del (n.*787_*789del) c.879_881del (p.Ala294del) | |
17 | g.74919647C>A | CA400961489 | USH1G | c.1189G>T (p.Ala397Ser) c.*788G>T (n.*788G>T) c.880G>T (p.Ala294Ser) | |
17 | g.74919647C>G | CA400961490 | USH1G | c.1189G>C (p.Ala397Pro) c.*788G>C (n.*788G>C) c.880G>C (p.Ala294Pro) | |
17 | g.74919647C>T | CA400961491 | USH1G | c.1189G>A (p.Ala397Thr) c.*788G>A (n.*788G>A) c.880G>A (p.Ala294Thr) | |
17 | g.74919648C>A | CA502036615 | USH1G | c.1188G>T (p.Leu396=) c.*787G>T (n.*787G>T) c.879G>T (p.Leu293=) | |
17 | g.74919648C>G | CA502036616 | USH1G | c.1188G>C (p.Leu396=) c.*787G>C (n.*787G>C) c.879G>C (p.Leu293=) | |
17 | g.74919648C>T | CA502036617 | USH1G | c.1188G>A (p.Leu396=) c.*787G>A (n.*787G>A) c.879G>A (p.Leu293=) | |
17 | g.74919649A= | CA2275255192 | USH1G | c.1187T= (p.Leu396=) c.*786T= (n.*786T=) c.878T= (p.Leu293=) | |
17 | g.74919649A>C | CA400961492 | USH1G | c.1187T>G (p.Leu396Arg) c.*786T>G (n.*786T>G) c.878T>G (p.Leu293Arg) | |
17 | g.74919649A>G | CA400961493 | USH1G | c.1187T>C (p.Leu396Pro) c.*786T>C (n.*786T>C) c.878T>C (p.Leu293Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919649A>T | CA400961494 | USH1G | c.1187T>A (p.Leu396Gln) c.*786T>A (n.*786T>A) c.878T>A (p.Leu293Gln) | dbSNP |
17 | g.74919650G>A | CA502036620 | USH1G | c.1186C>T (p.Leu396=) c.*785C>T (n.*785C>T) c.877C>T (p.Leu293=) | |
17 | g.74919650G>C | CA400961495 | USH1G | c.1186C>G (p.Leu396Val) c.*785C>G (n.*785C>G) c.877C>G (p.Leu293Val) | |
17 | g.74919650G>T | CA400961496 | USH1G | c.1186C>A (p.Leu396Met) c.*785C>A (n.*785C>A) c.877C>A (p.Leu293Met) | |
17 | g.74919651del | CA2639747140 | USH1G | c.1186del (p.Leu396TrpfsTer23) c.*785del (n.*785del) c.877del (p.Leu293TrpfsTer23) | gnomAD v4 |
17 | g.74919651G>A | CA502036621 | USH1G | c.1185C>T (p.Phe395=) c.*784C>T (n.*784C>T) c.876C>T (p.Phe292=) | |
17 | g.74919651G>C | CA400961498 | USH1G | c.1185C>G (p.Phe395Leu) c.*784C>G (n.*784C>G) c.876C>G (p.Phe292Leu) | |
17 | g.74919651G>T | CA400961497 | USH1G | c.1185C>A (p.Phe395Leu) c.*784C>A (n.*784C>A) c.876C>A (p.Phe292Leu) | |
17 | g.74919652A>C | CA400961499 | USH1G | c.1184T>G (p.Phe395Cys) c.*783T>G (n.*783T>G) c.875T>G (p.Phe292Cys) | |
17 | g.74919652A>G | CA400961501 | USH1G | c.1184T>C (p.Phe395Ser) c.*783T>C (n.*783T>C) c.875T>C (p.Phe292Ser) | |
17 | g.74919652A>T | CA400961500 | USH1G | c.1184T>A (p.Phe395Tyr) c.*783T>A (n.*783T>A) c.875T>A (p.Phe292Tyr) | |
17 | g.74919653A>C | CA400961502 | USH1G | c.1183T>G (p.Phe395Val) c.*782T>G (n.*782T>G) c.874T>G (p.Phe292Val) | |
17 | g.74919653A>G | CA400961503 | USH1G | c.1183T>C (p.Phe395Leu) c.*782T>C (n.*782T>C) c.874T>C (p.Phe292Leu) | |
17 | g.74919653A>T | CA400961504 | USH1G | c.1183T>A (p.Phe395Ile) c.*782T>A (n.*782T>A) c.874T>A (p.Phe292Ile) | |
17 | g.74919654G>A | CA502036624 | USH1G | c.1182C>T (p.Thr394=) c.*781C>T (n.*781C>T) c.873C>T (p.Thr291=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919654G>C | CA502036625 | USH1G | c.1182C>G (p.Thr394=) c.*781C>G (n.*781C>G) c.873C>G (p.Thr291=) | |
17 | g.74919654G= | CA2275255193 | USH1G | c.1182C= (p.Thr394=) c.*781C= (n.*781C=) c.873C= (p.Thr291=) | |
17 | g.74919654G>T | CA502036626 | USH1G | c.1182C>A (p.Thr394=) c.*781C>A (n.*781C>A) c.873C>A (p.Thr291=) | |
17 | g.74919655G>A | CA400961505 | USH1G | c.1181C>T (p.Thr394Ile) c.*780C>T (n.*780C>T) c.872C>T (p.Thr291Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919655G>C | CA400961506 | USH1G | c.1181C>G (p.Thr394Ser) c.*780C>G (n.*780C>G) c.872C>G (p.Thr291Ser) | |
17 | g.74919655G= | CA2275255194 | USH1G | c.1181C= (p.Thr394=) c.*780C= (n.*780C=) c.872C= (p.Thr291=) | |
17 | g.74919655G>T | CA400961507 | USH1G | c.1181C>A (p.Thr394Asn) c.*780C>A (n.*780C>A) c.872C>A (p.Thr291Asn) | |
17 | g.74919656T>A | CA400961510 | USH1G | c.1180A>T (p.Thr394Ser) c.*779A>T (n.*779A>T) c.871A>T (p.Thr291Ser) | |
17 | g.74919656T>C | CA400961508 | USH1G | c.1180A>G (p.Thr394Ala) c.*779A>G (n.*779A>G) c.871A>G (p.Thr291Ala) | gnomAD v4 |
17 | g.74919656T>G | CA400961509 | USH1G | c.1180A>C (p.Thr394Pro) c.*779A>C (n.*779A>C) c.871A>C (p.Thr291Pro) | |
17 | g.74919657C>A | CA8753918 | USH1G | c.1179G>T (p.Glu393Asp) c.*778G>T (n.*778G>T) c.870G>T (p.Glu290Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919657C= | CA2275255195 | USH1G | c.1179G= (p.Glu393=) c.*778G= (n.*778G=) c.870G= (p.Glu290=) | |
17 | g.74919657C>G | CA400961511 | USH1G | c.1179G>C (p.Glu393Asp) c.*778G>C (n.*778G>C) c.870G>C (p.Glu290Asp) | |
17 | g.74919657C>T | CA502036637 | USH1G | c.1179G>A (p.Glu393=) c.*778G>A (n.*778G>A) c.870G>A (p.Glu290=) | dbSNP gnomAD v2 |
17 | g.74919658T>A | CA400961512 | USH1G | c.1178A>T (p.Glu393Val) c.*777A>T (n.*777A>T) c.869A>T (p.Glu290Val) | |
17 | g.74919658T>C | CA400961513 | USH1G | c.1178A>G (p.Glu393Gly) c.*777A>G (n.*777A>G) c.869A>G (p.Glu290Gly) | gnomAD v4 |
17 | g.74919658T>G | CA400961514 | USH1G | c.1178A>C (p.Glu393Ala) c.*777A>C (n.*777A>C) c.869A>C (p.Glu290Ala) | |
17 | g.74919659C>A | CA400961517 | USH1G | c.1177G>T (p.Glu393Ter) c.*776G>T (n.*776G>T) c.868G>T (p.Glu290Ter) | |
17 | g.74919659C>G | CA400961515 | USH1G | c.1177G>C (p.Glu393Gln) c.*776G>C (n.*776G>C) c.868G>C (p.Glu290Gln) | |
17 | g.74919659C>T | CA400961516 | USH1G | c.1177G>A (p.Glu393Lys) c.*776G>A (n.*776G>A) c.868G>A (p.Glu290Lys) | |
17 | g.74919660C>A | CA502036640 | USH1G | c.1176G>T (p.Leu392=) c.*775G>T (n.*775G>T) c.867G>T (p.Leu289=) | |
17 | g.74919660C>G | CA502036641 | USH1G | c.1176G>C (p.Leu392=) c.*775G>C (n.*775G>C) c.867G>C (p.Leu289=) | |
17 | g.74919660C>T | CA502036642 | USH1G | c.1176G>A (p.Leu392=) c.*775G>A (n.*775G>A) c.867G>A (p.Leu289=) | |
17 | g.74919660_74919661insT | CA2576383326 | USH1G | c.1175_1176insA (p.Glu393GlyfsTer?) c.*774_*775insA (n.*774_*775insA) c.866_867insA (p.Glu290GlyfsTer?) | gnomAD v4 |
17 | g.74919661A>C | CA400961518 | USH1G | c.1175T>G (p.Leu392Arg) c.*774T>G (n.*774T>G) c.866T>G (p.Leu289Arg) | |
17 | g.74919661A>G | CA400961519 | USH1G | c.1175T>C (p.Leu392Pro) c.*774T>C (n.*774T>C) c.866T>C (p.Leu289Pro) | |
17 | g.74919661A>T | CA400961520 | USH1G | c.1175T>A (p.Leu392Gln) c.*774T>A (n.*774T>A) c.866T>A (p.Leu289Gln) | gnomAD v4 |
17 | g.74919661_74919662delinsAG | CA2275255196 | USH1G | c.1174_1175delinsCT (p.Leu392=) c.*773_*774delinsCT (n.*773_*774delinsCT) c.865_866delinsCT (p.Leu289=) | |
17 | g.74919662del | CA2275255197 | USH1G | c.1174del (p.Leu392TrpfsTer27) c.*773del (n.*773del) c.865del (p.Leu289TrpfsTer27) | dbSNP |
17 | g.74919662G>A | CA8753919 | USH1G | c.1174C>T (p.Leu392=) c.*773C>T (n.*773C>T) c.865C>T (p.Leu289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919662G>C | CA400961521 | USH1G | c.1174C>G (p.Leu392Val) c.*773C>G (n.*773C>G) c.865C>G (p.Leu289Val) | |
17 | g.74919662G= | CA2275255198 | USH1G | c.1174C= (p.Leu392=) c.*773C= (n.*773C=) c.865C= (p.Leu289=) | |
17 | g.74919662G>T | CA400961522 | USH1G | c.1174C>A (p.Leu392Met) c.*773C>A (n.*773C>A) c.865C>A (p.Leu289Met) | |
17 | g.74919663_74919664del | CA2576383327 | USH1G | c.1173_1174del (p.Leu392GlyfsTer?) c.*772_*773del (n.*772_*773del) c.864_865del (p.Leu289GlyfsTer?) | gnomAD v4 |
17 | g.74919663C>A | CA502036647 | USH1G | c.1173G>T (p.Pro391=) c.*772G>T (n.*772G>T) c.864G>T (p.Pro288=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919663C= | CA2275255199 | USH1G | c.1173G= (p.Pro391=) c.*772G= (n.*772G=) c.864G= (p.Pro288=) | |
17 | g.74919663C>G | CA502036648 | USH1G | c.1173G>C (p.Pro391=) c.*772G>C (n.*772G>C) c.864G>C (p.Pro288=) | gnomAD v4 |
17 | g.74919663C>T | CA502036649 | USH1G | c.1173G>A (p.Pro391=) c.*772G>A (n.*772G>A) c.864G>A (p.Pro288=) | COSMIC |
17 | g.74919669_74919679del | CA2639747145 | USH1G | c.1163_1173del (p.Glu388AlafsTer?) c.*762_*772del (n.*762_*772del) c.854_864del (p.Glu285AlafsTer?) | gnomAD v4 |
17 | g.74919664G>A | CA400961523 | USH1G | c.1172C>T (p.Pro391Leu) c.*771C>T (n.*771C>T) c.863C>T (p.Pro288Leu) | |
17 | g.74919664G>C | CA400961524 | USH1G | c.1172C>G (p.Pro391Arg) c.*771C>G (n.*771C>G) c.863C>G (p.Pro288Arg) | |
17 | g.74919664G>T | CA400961525 | USH1G | c.1172C>A (p.Pro391Gln) c.*771C>A (n.*771C>A) c.863C>A (p.Pro288Gln) | |
17 | g.74919665G>A | CA400961526 | USH1G | c.1171C>T (p.Pro391Ser) c.*770C>T (n.*770C>T) c.862C>T (p.Pro288Ser) | gnomAD v4 |
17 | g.74919665G>C | CA400961527 | USH1G | c.1171C>G (p.Pro391Ala) c.*770C>G (n.*770C>G) c.862C>G (p.Pro288Ala) | |
17 | g.74919665G>T | CA400961528 | USH1G | c.1171C>A (p.Pro391Thr) c.*770C>A (n.*770C>A) c.862C>A (p.Pro288Thr) | |
17 | g.74919665_74919667del | CA645598975 | USH1G | c.1169_1171del (p.Ser390_Pro391delinsThr) c.*768_*770del (n.*768_*770del) c.860_862del (p.Ser287_Pro288delinsThr) | COSMIC |
17 | g.74919666G>A | CA8753920 | USH1G | c.1170C>T (p.Ser390=) c.*769C>T (n.*769C>T) c.861C>T (p.Ser287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919666G>C | CA400961530 | USH1G | c.1170C>G (p.Ser390Arg) c.*769C>G (n.*769C>G) c.861C>G (p.Ser287Arg) | gnomAD v4 |
17 | g.74919666G= | CA2275255200 | USH1G | c.1170C= (p.Ser390=) c.*769C= (n.*769C=) c.861C= (p.Ser287=) | |
17 | g.74919666G>T | CA400961529 | USH1G | c.1170C>A (p.Ser390Arg) c.*769C>A (n.*769C>A) c.861C>A (p.Ser287Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919667C>A | CA400961531 | USH1G | c.1169G>T (p.Ser390Ile) c.*768G>T (n.*768G>T) c.860G>T (p.Ser287Ile) | dbSNP gnomAD v4 |
17 | g.74919667C= | CA2275255201 | USH1G | c.1169G= (p.Ser390=) c.*768G= (n.*768G=) c.860G= (p.Ser287=) | |
17 | g.74919667C>G | CA400961532 | USH1G | c.1169G>C (p.Ser390Thr) c.*768G>C (n.*768G>C) c.860G>C (p.Ser287Thr) | |
17 | g.74919667C>T | CA400961533 | USH1G | c.1169G>A (p.Ser390Asn) c.*768G>A (n.*768G>A) c.860G>A (p.Ser287Asn) | gnomAD v4 |
17 | g.74919668T>A | CA400961534 | USH1G | c.1168A>T (p.Ser390Cys) c.*767A>T (n.*767A>T) c.859A>T (p.Ser287Cys) | |
17 | g.74919668T>C | CA400961535 | USH1G | c.1168A>G (p.Ser390Gly) c.*767A>G (n.*767A>G) c.859A>G (p.Ser287Gly) | |
17 | g.74919668T>G | CA400961536 | USH1G | c.1168A>C (p.Ser390Arg) c.*767A>C (n.*767A>C) c.859A>C (p.Ser287Arg) | |
17 | g.74919669A= | CA2275255202 | USH1G | c.1167T= (p.Thr389=) c.*766T= (n.*766T=) c.858T= (p.Thr286=) | |
17 | g.74919669A>C | CA502036660 | USH1G | c.1167T>G (p.Thr389=) c.*766T>G (n.*766T>G) c.858T>G (p.Thr286=) | |
17 | g.74919669A>G | CA502036659 | USH1G | c.1167T>C (p.Thr389=) c.*766T>C (n.*766T>C) c.858T>C (p.Thr286=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919669A>T | CA502036658 | USH1G | c.1167T>A (p.Thr389=) c.*766T>A (n.*766T>A) c.858T>A (p.Thr286=) | |
17 | g.74919670G>A | CA400961537 | USH1G | c.1166C>T (p.Thr389Ile) c.*765C>T (n.*765C>T) c.857C>T (p.Thr286Ile) | |
17 | g.74919670G>C | CA400961538 | USH1G | c.1166C>G (p.Thr389Ser) c.*765C>G (n.*765C>G) c.857C>G (p.Thr286Ser) | |
17 | g.74919670G>T | CA400961539 | USH1G | c.1166C>A (p.Thr389Asn) c.*765C>A (n.*765C>A) c.857C>A (p.Thr286Asn) | |
17 | g.74919671T>A | CA400961540 | USH1G | c.1165A>T (p.Thr389Ser) c.*764A>T (n.*764A>T) c.856A>T (p.Thr286Ser) | |
17 | g.74919671T>C | CA400961541 | USH1G | c.1165A>G (p.Thr389Ala) c.*764A>G (n.*764A>G) c.856A>G (p.Thr286Ala) | |
17 | g.74919671T>G | CA400961542 | USH1G | c.1165A>C (p.Thr389Pro) c.*764A>C (n.*764A>C) c.856A>C (p.Thr286Pro) | |
17 | g.74919672C>A | CA400961543 | USH1G | c.1164G>T (p.Glu388Asp) c.*763G>T (n.*763G>T) c.855G>T (p.Glu285Asp) | |
17 | g.74919672C= | CA2275255203 | USH1G | c.1164G= (p.Glu388=) c.*763G= (n.*763G=) c.855G= (p.Glu285=) | |
17 | g.74919672C>G | CA8753921 | USH1G | c.1164G>C (p.Glu388Asp) c.*763G>C (n.*763G>C) c.855G>C (p.Glu285Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919672C>T | CA502036665 | USH1G | c.1164G>A (p.Glu388=) c.*763G>A (n.*763G>A) c.855G>A (p.Glu285=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919673del | CA2639747147 | USH1G | c.1163del (p.Glu388GlyfsTer?) c.*762del (n.*762del) c.854del (p.Glu285GlyfsTer?) | gnomAD v4 |
17 | g.74919673T>A | CA400961544 | USH1G | c.1163A>T (p.Glu388Val) c.*762A>T (n.*762A>T) c.854A>T (p.Glu285Val) | |
17 | g.74919673T>C | CA400961545 | USH1G | c.1163A>G (p.Glu388Gly) c.*762A>G (n.*762A>G) c.854A>G (p.Glu285Gly) | gnomAD v4 |
17 | g.74919673T>G | CA400961546 | USH1G | c.1163A>C (p.Glu388Ala) c.*762A>C (n.*762A>C) c.854A>C (p.Glu285Ala) | |
17 | g.74919674C>A | CA8753923 | USH1G | c.1162G>T (p.Glu388Ter) c.*761G>T (n.*761G>T) c.853G>T (p.Glu285Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919674C= | CA2275255204 | USH1G | c.1162G= (p.Glu388=) c.*761G= (n.*761G=) c.853G= (p.Glu285=) | |
17 | g.74919674C>G | CA400961547 | USH1G | c.1162G>C (p.Glu388Gln) c.*761G>C (n.*761G>C) c.853G>C (p.Glu285Gln) | |
17 | g.74919674C>T | CA8753922 | USH1G | c.1162G>A (p.Glu388Lys) c.*761G>A (n.*761G>A) c.853G>A (p.Glu285Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.74919674_74919675insAA | CA2639747148 | USH1G | c.1161_1162insTT (p.Glu388LeufsTer?) c.*760_*761insTT (n.*760_*761insTT) c.852_853insTT (p.Glu285LeufsTer?) | gnomAD v4 |
17 | g.74919675G>A | CA502036673 | USH1G | c.1161C>T (p.Pro387=) c.*760C>T (n.*760C>T) c.852C>T (p.Pro284=) | |
17 | g.74919675G>C | CA502036674 | USH1G | c.1161C>G (p.Pro387=) c.*760C>G (n.*760C>G) c.852C>G (p.Pro284=) | dbSNP gnomAD v4 |
17 | g.74919675G= | CA2275255205 | USH1G | c.1161C= (p.Pro387=) c.*760C= (n.*760C=) c.852C= (p.Pro284=) | |
17 | g.74919675G>T | CA502036675 | USH1G | c.1161C>A (p.Pro387=) c.*760C>A (n.*760C>A) c.852C>A (p.Pro284=) | |
17 | g.74919676G>A | CA400961548 | USH1G | c.1160C>T (p.Pro387Leu) c.*759C>T (n.*759C>T) c.851C>T (p.Pro284Leu) | |
17 | g.74919676G>C | CA400961549 | USH1G | c.1160C>G (p.Pro387Arg) c.*759C>G (n.*759C>G) c.851C>G (p.Pro284Arg) | |
17 | g.74919676G>T | CA400961550 | USH1G | c.1160C>A (p.Pro387His) c.*759C>A (n.*759C>A) c.851C>A (p.Pro284His) | |
17 | g.74919677G>A | CA400961551 | USH1G | c.1159C>T (p.Pro387Ser) c.*758C>T (n.*758C>T) c.850C>T (p.Pro284Ser) | COSMIC |
17 | g.74919677G>C | CA400961552 | USH1G | c.1159C>G (p.Pro387Ala) c.*758C>G (n.*758C>G) c.850C>G (p.Pro284Ala) | gnomAD v4 |
17 | g.74919677G>T | CA400961553 | USH1G | c.1159C>A (p.Pro387Thr) c.*758C>A (n.*758C>A) c.850C>A (p.Pro284Thr) | |
17 | g.74919678C>A | CA293983566 | USH1G | c.1158G>T (p.Glu386Asp) c.*757G>T (n.*757G>T) c.849G>T (p.Glu283Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919678C= | CA2275255206 | USH1G | c.1158G= (p.Glu386=) c.*757G= (n.*757G=) c.849G= (p.Glu283=) | |
17 | g.74919678C>G | CA400961554 | USH1G | c.1158G>C (p.Glu386Asp) c.*757G>C (n.*757G>C) c.849G>C (p.Glu283Asp) | |
17 | g.74919678C>T | CA502036681 | USH1G | c.1158G>A (p.Glu386=) c.*757G>A (n.*757G>A) c.849G>A (p.Glu283=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919679T>A | CA400961555 | USH1G | c.1157A>T (p.Glu386Val) c.*756A>T (n.*756A>T) c.848A>T (p.Glu283Val) | |
17 | g.74919679T>C | CA400961557 | USH1G | c.1157A>G (p.Glu386Gly) c.*756A>G (n.*756A>G) c.848A>G (p.Glu283Gly) | gnomAD v4 |
17 | g.74919679T>G | CA400961556 | USH1G | c.1157A>C (p.Glu386Ala) c.*756A>C (n.*756A>C) c.848A>C (p.Glu283Ala) | |
17 | g.74919680C>A | CA400961558 | USH1G | c.1156G>T (p.Glu386Ter) c.*755G>T (n.*755G>T) c.847G>T (p.Glu283Ter) | |
17 | g.74919680C>G | CA400961559 | USH1G | c.1156G>C (p.Glu386Gln) c.*755G>C (n.*755G>C) c.847G>C (p.Glu283Gln) | gnomAD v4 |
17 | g.74919680C>T | CA400961560 | USH1G | c.1156G>A (p.Glu386Lys) c.*755G>A (n.*755G>A) c.847G>A (p.Glu283Lys) | |
17 | g.74919681C>A | CA502036687 | USH1G | c.1155G>T (p.Leu385=) c.*754G>T (n.*754G>T) c.846G>T (p.Leu282=) | |
17 | g.74919681C>G | CA502036688 | USH1G | c.1155G>C (p.Leu385=) c.*754G>C (n.*754G>C) c.846G>C (p.Leu282=) | |
17 | g.74919681C>T | CA502036689 | USH1G | c.1155G>A (p.Leu385=) c.*754G>A (n.*754G>A) c.846G>A (p.Leu282=) | gnomAD v4 |
17 | g.74919682A>C | CA400961561 | USH1G | c.1154T>G (p.Leu385Arg) c.*753T>G (n.*753T>G) c.845T>G (p.Leu282Arg) | |
17 | g.74919682A>G | CA400961562 | USH1G | c.1154T>C (p.Leu385Pro) c.*753T>C (n.*753T>C) c.845T>C (p.Leu282Pro) | gnomAD v4 |
17 | g.74919682A>T | CA400961563 | USH1G | c.1154T>A (p.Leu385Gln) c.*753T>A (n.*753T>A) c.845T>A (p.Leu282Gln) | |
17 | g.74919683G>A | CA502036693 | USH1G | c.1153C>T (p.Leu385=) c.*752C>T (n.*752C>T) c.844C>T (p.Leu282=) | gnomAD v4 |
17 | g.74919683G>C | CA400961564 | USH1G | c.1153C>G (p.Leu385Val) c.*752C>G (n.*752C>G) c.844C>G (p.Leu282Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74919683G= | CA2275255207 | USH1G | c.1153C= (p.Leu385=) c.*752C= (n.*752C=) c.844C= (p.Leu282=) | |
17 | g.74919683G>T | CA293983567 | USH1G | c.1153C>A (p.Leu385Met) c.*752C>A (n.*752C>A) c.844C>A (p.Leu282Met) | dbSNP |
17 | g.74919684G>A | CA183405 | USH1G | c.1152C>T (p.Asp384=) c.*751C>T (n.*751C>T) c.843C>T (p.Asp281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919684G>C | CA400961565 | USH1G | c.1152C>G (p.Asp384Glu) c.*751C>G (n.*751C>G) c.843C>G (p.Asp281Glu) | |
17 | g.74919684G= | CA2275255208 | USH1G | c.1152C= (p.Asp384=) c.*751C= (n.*751C=) c.843C= (p.Asp281=) | |
17 | g.74919684G>T | CA400961566 | USH1G | c.1152C>A (p.Asp384Glu) c.*751C>A (n.*751C>A) c.843C>A (p.Asp281Glu) | |
17 | g.74919685T>A | CA400961569 | USH1G | c.1151A>T (p.Asp384Val) c.*750A>T (n.*750A>T) c.842A>T (p.Asp281Val) | |
17 | g.74919685T>C | CA400961568 | USH1G | c.1151A>G (p.Asp384Gly) c.*750A>G (n.*750A>G) c.842A>G (p.Asp281Gly) | |
17 | g.74919685T>G | CA400961567 | USH1G | c.1151A>C (p.Asp384Ala) c.*750A>C (n.*750A>C) c.842A>C (p.Asp281Ala) | |
17 | g.74919686C>A | CA400961570 | USH1G | c.1150G>T (p.Asp384Tyr) c.*749G>T (n.*749G>T) c.841G>T (p.Asp281Tyr) | dbSNP |
17 | g.74919686C= | CA2275255209 | USH1G | c.1150G= (p.Asp384=) c.*749G= (n.*749G=) c.841G= (p.Asp281=) | |
17 | g.74919686C>G | CA400961571 | USH1G | c.1150G>C (p.Asp384His) c.*749G>C (n.*749G>C) c.841G>C (p.Asp281His) | |
17 | g.74919686C>T | CA400961572 | USH1G | c.1150G>A (p.Asp384Asn) c.*749G>A (n.*749G>A) c.841G>A (p.Asp281Asn) | gnomAD v4 |
17 | g.74919687C>A | CA400961573 | USH1G | c.1149G>T (p.Glu383Asp) c.*748G>T (n.*748G>T) c.840G>T (p.Glu280Asp) | |
17 | g.74919687C= | CA2275255210 | USH1G | c.1149G= (p.Glu383=) c.*748G= (n.*748G=) c.840G= (p.Glu280=) | |
17 | g.74919687C>G | CA8753924 | USH1G | c.1149G>C (p.Glu383Asp) c.*748G>C (n.*748G>C) c.840G>C (p.Glu280Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74919687C>T | CA8753925 | USH1G | c.1149G>A (p.Glu383=) c.*748G>A (n.*748G>A) c.840G>A (p.Glu280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919688T>A | CA8753926 | USH1G | c.1148A>T (p.Glu383Val) c.*747A>T (n.*747A>T) c.839A>T (p.Glu280Val) | dbSNP ExAC gnomAD v4 |
17 | g.74919688T>C | CA400961574 | USH1G | c.1148A>G (p.Glu383Gly) c.*747A>G (n.*747A>G) c.839A>G (p.Glu280Gly) | |
17 | g.74919688T>G | CA400961575 | USH1G | c.1148A>C (p.Glu383Ala) c.*747A>C (n.*747A>C) c.839A>C (p.Glu280Ala) | |
17 | g.74919688T= | CA2275255211 | USH1G | c.1148A= (p.Glu383=) c.*747A= (n.*747A=) c.839A= (p.Glu280=) | |
17 | g.74919689C>A | CA400961576 | USH1G | c.1147G>T (p.Glu383Ter) c.*746G>T (n.*746G>T) c.838G>T (p.Glu280Ter) | dbSNP |
17 | g.74919689C= | CA2275255212 | USH1G | c.1147G= (p.Glu383=) c.*746G= (n.*746G=) c.838G= (p.Glu280=) | |
17 | g.74919689C>G | CA400961577 | USH1G | c.1147G>C (p.Glu383Gln) c.*746G>C (n.*746G>C) c.838G>C (p.Glu280Gln) | |
17 | g.74919689C>T | CA400961578 | USH1G | c.1147G>A (p.Glu383Lys) c.*746G>A (n.*746G>A) c.838G>A (p.Glu280Lys) | gnomAD v4 |
17 | g.74919690G>A | CA8753927 | USH1G | c.1146C>T (p.Asp382=) c.*745C>T (n.*745C>T) c.837C>T (p.Asp279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74919690G>C | CA400961580 | USH1G | c.1146C>G (p.Asp382Glu) c.*745C>G (n.*745C>G) c.837C>G (p.Asp279Glu) | gnomAD v4 |
17 | g.74919690G= | CA2275255213 | USH1G | c.1146C= (p.Asp382=) c.*745C= (n.*745C=) c.837C= (p.Asp279=) | |
17 | g.74919690G>T | CA400961579 | USH1G | c.1146C>A (p.Asp382Glu) c.*745C>A (n.*745C>A) c.837C>A (p.Asp279Glu) | gnomAD v4 |
17 | g.74919691T>A | CA400961581 | USH1G | c.1145A>T (p.Asp382Val) c.*744A>T (n.*744A>T) c.836A>T (p.Asp279Val) | COSMIC |
17 | g.74919691T>C | CA400961582 | USH1G | c.1145A>G (p.Asp382Gly) c.*744A>G (n.*744A>G) c.836A>G (p.Asp279Gly) | |
17 | g.74919691T>G | CA400961583 | USH1G | c.1145A>C (p.Asp382Ala) c.*744A>C (n.*744A>C) c.836A>C (p.Asp279Ala) | gnomAD v4 |
17 | g.74919692C>A | CA400961584 | USH1G | c.1144G>T (p.Asp382Tyr) c.*743G>T (n.*743G>T) c.835G>T (p.Asp279Tyr) | |
17 | g.74919692C>G | CA400961585 | USH1G | c.1144G>C (p.Asp382His) c.*743G>C (n.*743G>C) c.835G>C (p.Asp279His) | |
17 | g.74919692C>T | CA400961586 | USH1G | c.1144G>A (p.Asp382Asn) c.*743G>A (n.*743G>A) c.835G>A (p.Asp279Asn) | |
17 | g.74919693C>A | CA400961588 | USH1G | c.1143G>T (p.Leu381Phe) c.*742G>T (n.*742G>T) c.834G>T (p.Leu278Phe) | |
17 | g.74919693C= | CA2275255214 | USH1G | c.1143G= (p.Leu381=) c.*742G= (n.*742G=) c.834G= (p.Leu278=) | |
17 | g.74919693C>G | CA400961587 | USH1G | c.1143G>C (p.Leu381Phe) c.*742G>C (n.*742G>C) c.834G>C (p.Leu278Phe) | |
17 | g.74919693C>T | CA502036710 | USH1G | c.1143G>A (p.Leu381=) c.*742G>A (n.*742G>A) c.834G>A (p.Leu278=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.74919694A= | CA2275255215 | USH1G | c.1142T= (p.Leu381=) c.*741T= (n.*741T=) c.833T= (p.Leu278=) | |
17 | g.74919694A>C | CA400961589 | USH1G | c.1142T>G (p.Leu381Trp) c.*741T>G (n.*741T>G) c.833T>G (p.Leu278Trp) | |
17 | g.74919694A>G | CA400961590 | USH1G | c.1142T>C (p.Leu381Ser) c.*741T>C (n.*741T>C) c.833T>C (p.Leu278Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.74919694A>T | CA400961591 | USH1G | c.1142T>A (p.Leu381Ter) c.*741T>A (n.*741T>A) c.833T>A (p.Leu278Ter) |