| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4418026C>A | CA351632433 | SUMF1 | c.709G>T (p.Gly237Ter) c.634G>T (p.Gly212Ter) c.445-7048G>T (n.445-7048G>T) | |
| 3 | g.4418026C= | CA1342154182 | SUMF1 | c.709G= (p.Gly237=) c.634G= (p.Gly212=) c.445-7048G= (n.445-7048G=) | |
| 3 | g.4418026C>G | CA2230493 | SUMF1 | c.709G>C (p.Gly237Arg) c.634G>C (p.Gly212Arg) c.445-7048G>C (n.445-7048G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418026C>T | CA351632430 | SUMF1 | c.709G>A (p.Gly237Arg) c.634G>A (p.Gly212Arg) c.445-7048G>A (n.445-7048G>A) | dbSNP gnomAD v2 |
| 3 | g.4418027T>A | CA432313410 | SUMF1 | c.708A>T (p.Arg236=) c.633A>T (p.Arg211=) c.445-7049A>T (n.445-7049A>T) | gnomAD v4 |
| 3 | g.4418027T>C | CA432313414 | SUMF1 | c.708A>G (p.Arg236=) c.633A>G (p.Arg211=) c.445-7049A>G (n.445-7049A>G) | |
| 3 | g.4418027T>G | CA432313424 | SUMF1 | c.708A>C (p.Arg236=) c.633A>C (p.Arg211=) c.445-7049A>C (n.445-7049A>C) | |
| 3 | g.4418028C>A | CA2230495 | SUMF1 | c.707G>T (p.Arg236Leu) c.632G>T (p.Arg211Leu) c.445-7050G>T (n.445-7050G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418028C= | CA1342154186 | SUMF1 | c.707G= (p.Arg236=) c.632G= (p.Arg211=) c.445-7050G= (n.445-7050G=) | |
| 3 | g.4418028C>G | CA351632438 | SUMF1 | c.707G>C (p.Arg236Pro) c.632G>C (p.Arg211Pro) c.445-7050G>C (n.445-7050G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418028C>T | CA2230494 | SUMF1 | c.707G>A (p.Arg236Gln) c.632G>A (p.Arg211Gln) c.445-7050G>A (n.445-7050G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418029G>A | CA2230496 | SUMF1 | c.706C>T (p.Arg236Ter) c.631C>T (p.Arg211Ter) c.445-7051C>T (n.445-7051C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.4418029G>C | CA351632443 | SUMF1 | c.706C>G (p.Arg236Gly) c.631C>G (p.Arg211Gly) c.445-7051C>G (n.445-7051C>G) | |
| 3 | g.4418029G= | CA1342154189 | SUMF1 | c.706C= (p.Arg236=) c.631C= (p.Arg211=) c.445-7051C= (n.445-7051C=) | |
| 3 | g.4418029G>T | CA432313433 | SUMF1 | c.706C>A (p.Arg236=) c.631C>A (p.Arg211=) c.445-7051C>A (n.445-7051C>A) | gnomAD v4 |
| 3 | g.4418030A>C | CA351632444 | SUMF1 | c.705T>G (p.Cys235Trp) c.630T>G (p.Cys210Trp) c.445-7052T>G (n.445-7052T>G) | |
| 3 | g.4418030A>G | CA432313435 | SUMF1 | c.705T>C (p.Cys235=) c.630T>C (p.Cys210=) c.445-7052T>C (n.445-7052T>C) | COSMIC COSMIC |
| 3 | g.4418030A>T | CA351632446 | SUMF1 | c.705T>A (p.Cys235Ter) c.630T>A (p.Cys210Ter) c.445-7052T>A (n.445-7052T>A) | |
| 3 | g.4418031C>A | CA351632447 | SUMF1 | c.704G>T (p.Cys235Phe) c.629G>T (p.Cys210Phe) c.445-7053G>T (n.445-7053G>T) | |
| 3 | g.4418031C>G | CA351632449 | SUMF1 | c.704G>C (p.Cys235Ser) c.629G>C (p.Cys210Ser) c.445-7053G>C (n.445-7053G>C) | |
| 3 | g.4418031C>T | CA351632451 | SUMF1 | c.704G>A (p.Cys235Tyr) c.629G>A (p.Cys210Tyr) c.445-7053G>A (n.445-7053G>A) | |
| 3 | g.4418033_4418044del | CA2664206515 | SUMF1 | c.693_704del (p.Trp231_Ser234del) c.618_629del (p.Trp206_Ser209del) c.445-7064_445-7053del (n.445-7064_445-7053del) | gnomAD v4 |
| 3 | g.4418032A>C | CA351632453 | SUMF1 | c.703T>G (p.Cys235Gly) c.628T>G (p.Cys210Gly) c.445-7054T>G (n.445-7054T>G) | gnomAD v4 |
| 3 | g.4418032A>G | CA351632455 | SUMF1 | c.703T>C (p.Cys235Arg) c.628T>C (p.Cys210Arg) c.445-7054T>C (n.445-7054T>C) | |
| 3 | g.4418032A>T | CA351632457 | SUMF1 | c.703T>A (p.Cys235Ser) c.628T>A (p.Cys210Ser) c.445-7054T>A (n.445-7054T>A) | |
| 3 | g.4418033G>A | CA432313451 | SUMF1 | c.702C>T (p.Ser234=) c.627C>T (p.Ser209=) c.445-7055C>T (n.445-7055C>T) | ClinVar gnomAD v4 |
| 3 | g.4418033G>C | CA351632459 | SUMF1 | c.702C>G (p.Ser234Arg) c.627C>G (p.Ser209Arg) c.445-7055C>G (n.445-7055C>G) | dbSNP |
| 3 | g.4418033G>T | CA351632461 | SUMF1 | c.702C>A (p.Ser234Arg) c.627C>A (p.Ser209Arg) c.445-7055C>A (n.445-7055C>A) | |
| 3 | g.4418034C>A | CA351632463 | SUMF1 | c.701G>T (p.Ser234Ile) c.626G>T (p.Ser209Ile) c.445-7056G>T (n.445-7056G>T) | |
| 3 | g.4418034C>G | CA351632465 | SUMF1 | c.701G>C (p.Ser234Thr) c.626G>C (p.Ser209Thr) c.445-7056G>C (n.445-7056G>C) | |
| 3 | g.4418034C>T | CA351632467 | SUMF1 | c.701G>A (p.Ser234Asn) c.626G>A (p.Ser209Asn) c.445-7056G>A (n.445-7056G>A) | |
| 3 | g.4418035T>A | CA351632469 | SUMF1 | c.700A>T (p.Ser234Cys) c.625A>T (p.Ser209Cys) c.445-7057A>T (n.445-7057A>T) | |
| 3 | g.4418035T>C | CA351632471 | SUMF1 | c.700A>G (p.Ser234Gly) c.625A>G (p.Ser209Gly) c.445-7057A>G (n.445-7057A>G) | |
| 3 | g.4418035T>G | CA351632472 | SUMF1 | c.700A>C (p.Ser234Arg) c.625A>C (p.Ser209Arg) c.445-7057A>C (n.445-7057A>C) | |
| 3 | g.4418036G>A | CA432313470 | SUMF1 | c.699C>T (p.Tyr233=) c.624C>T (p.Tyr208=) c.445-7058C>T (n.445-7058C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418036G>C | CA351632473 | SUMF1 | c.699C>G (p.Tyr233Ter) c.624C>G (p.Tyr208Ter) c.445-7058C>G (n.445-7058C>G) | ClinVar gnomAD v4 |
| 3 | g.4418036G= | CA1342154191 | SUMF1 | c.699C= (p.Tyr233=) c.624C= (p.Tyr208=) c.445-7058C= (n.445-7058C=) | |
| 3 | g.4418036G>T | CA351632475 | SUMF1 | c.699C>A (p.Tyr233Ter) c.624C>A (p.Tyr208Ter) c.445-7058C>A (n.445-7058C>A) | gnomAD v4 |
| 3 | g.4418037T>A | CA351632478 | SUMF1 | c.698A>T (p.Tyr233Phe) c.623A>T (p.Tyr208Phe) c.445-7059A>T (n.445-7059A>T) | |
| 3 | g.4418037T>C | CA351632480 | SUMF1 | c.698A>G (p.Tyr233Cys) c.623A>G (p.Tyr208Cys) c.445-7059A>G (n.445-7059A>G) | |
| 3 | g.4418037T>G | CA351632481 | SUMF1 | c.698A>C (p.Tyr233Ser) c.623A>C (p.Tyr208Ser) c.445-7059A>C (n.445-7059A>C) | |
| 3 | g.4418038A>C | CA351632484 | SUMF1 | c.697T>G (p.Tyr233Asp) c.622T>G (p.Tyr208Asp) c.445-7060T>G (n.445-7060T>G) | |
| 3 | g.4418038A>G | CA351632485 | SUMF1 | c.697T>C (p.Tyr233His) c.622T>C (p.Tyr208His) c.445-7060T>C (n.445-7060T>C) | |
| 3 | g.4418038A>T | CA351632488 | SUMF1 | c.697T>A (p.Tyr233Asn) c.622T>A (p.Tyr208Asn) c.445-7060T>A (n.445-7060T>A) | |
| 3 | g.4418039T>A | CA351632490 | SUMF1 | c.696A>T (p.Glu232Asp) c.621A>T (p.Glu207Asp) c.445-7061A>T (n.445-7061A>T) | |
| 3 | g.4418039T>C | CA432313511 | SUMF1 | c.696A>G (p.Glu232=) c.621A>G (p.Glu207=) c.445-7061A>G (n.445-7061A>G) | ClinVar gnomAD v4 |
| 3 | g.4418039T>G | CA351632492 | SUMF1 | c.696A>C (p.Glu232Asp) c.621A>C (p.Glu207Asp) c.445-7061A>C (n.445-7061A>C) | |
| 3 | g.4418040T>A | CA351632494 | SUMF1 | c.695A>T (p.Glu232Val) c.620A>T (p.Glu207Val) c.445-7062A>T (n.445-7062A>T) | |
| 3 | g.4418040T>C | CA351632496 | SUMF1 | c.695A>G (p.Glu232Gly) c.620A>G (p.Glu207Gly) c.445-7062A>G (n.445-7062A>G) | |
| 3 | g.4418040T>G | CA351632497 | SUMF1 | c.695A>C (p.Glu232Ala) c.620A>C (p.Glu207Ala) c.445-7062A>C (n.445-7062A>C) | |
| 3 | g.4418041C>A | CA351632499 | SUMF1 | c.694G>T (p.Glu232Ter) c.619G>T (p.Glu207Ter) c.445-7063G>T (n.445-7063G>T) | gnomAD v4 |
| 3 | g.4418041C>G | CA351632501 | SUMF1 | c.694G>C (p.Glu232Gln) c.619G>C (p.Glu207Gln) c.445-7063G>C (n.445-7063G>C) | |
| 3 | g.4418041C>T | CA351632503 | SUMF1 | c.694G>A (p.Glu232Lys) c.619G>A (p.Glu207Lys) c.445-7063G>A (n.445-7063G>A) | |
| 3 | g.4418042C>A | CA351632505 | SUMF1 | c.693G>T (p.Trp231Cys) c.618G>T (p.Trp206Cys) c.445-7064G>T (n.445-7064G>T) | |
| 3 | g.4418042C>G | CA351632507 | SUMF1 | c.693G>C (p.Trp231Cys) c.618G>C (p.Trp206Cys) c.445-7064G>C (n.445-7064G>C) | |
| 3 | g.4418042C>T | CA351632510 | SUMF1 | c.693G>A (p.Trp231Ter) c.618G>A (p.Trp206Ter) c.445-7064G>A (n.445-7064G>A) | |
| 3 | g.4418043C>A | CA351632511 | SUMF1 | c.692G>T (p.Trp231Leu) c.617G>T (p.Trp206Leu) c.445-7065G>T (n.445-7065G>T) | |
| 3 | g.4418043C= | CA1342154194 | SUMF1 | c.692G= (p.Trp231=) c.617G= (p.Trp206=) c.445-7065G= (n.445-7065G=) | |
| 3 | g.4418043C>G | CA351632512 | SUMF1 | c.692G>C (p.Trp231Ser) c.617G>C (p.Trp206Ser) c.445-7065G>C (n.445-7065G>C) | |
| 3 | g.4418043C>T | CA351632513 | SUMF1 | c.692G>A (p.Trp231Ter) c.617G>A (p.Trp206Ter) c.445-7065G>A (n.445-7065G>A) | ClinVar gnomAD v4 |
| 3 | g.4418044A= | CA1342154197 | SUMF1 | c.691T= (p.Trp231=) c.616T= (p.Trp206=) c.445-7066T= (n.445-7066T=) | |
| 3 | g.4418044A>C | CA351632519 | SUMF1 | c.691T>G (p.Trp231Gly) c.616T>G (p.Trp206Gly) c.445-7066T>G (n.445-7066T>G) | dbSNP |
| 3 | g.4418044A>G | CA351632515 | SUMF1 | c.691T>C (p.Trp231Arg) c.616T>C (p.Trp206Arg) c.445-7066T>C (n.445-7066T>C) | |
| 3 | g.4418044A>T | CA351632517 | SUMF1 | c.691T>A (p.Trp231Arg) c.616T>A (p.Trp206Arg) c.445-7066T>A (n.445-7066T>A) | |
| 3 | g.4418044dup | CA2230497 | SUMF1 | c.691dup (p.Trp231LeufsTer11) c.616dup (p.Trp206LeufsTer11) c.445-7066dup (n.445-7066dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418045C>A | CA351632522 | SUMF1 | c.690G>T (p.Glu230Asp) c.615G>T (p.Glu205Asp) c.445-7067G>T (n.445-7067G>T) | |
| 3 | g.4418045C= | CA1342154199 | SUMF1 | c.690G= (p.Glu230=) c.615G= (p.Glu205=) c.445-7067G= (n.445-7067G=) | |
| 3 | g.4418045C>G | CA351632524 | SUMF1 | c.690G>C (p.Glu230Asp) c.615G>C (p.Glu205Asp) c.445-7067G>C (n.445-7067G>C) | |
| 3 | g.4418045C>T | CA432313579 | SUMF1 | c.690G>A (p.Glu230=) c.615G>A (p.Glu205=) c.445-7067G>A (n.445-7067G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418046T>A | CA351632526 | SUMF1 | c.689A>T (p.Glu230Val) c.614A>T (p.Glu205Val) c.445-7068A>T (n.445-7068A>T) | |
| 3 | g.4418046T>C | CA351632528 | SUMF1 | c.689A>G (p.Glu230Gly) c.614A>G (p.Glu205Gly) c.445-7068A>G (n.445-7068A>G) | |
| 3 | g.4418046T>G | CA351632529 | SUMF1 | c.689A>C (p.Glu230Ala) c.614A>C (p.Glu205Ala) c.445-7068A>C (n.445-7068A>C) | |
| 3 | g.4418047C>A | CA351632532 | SUMF1 | c.688G>T (p.Glu230Ter) c.613G>T (p.Glu205Ter) c.445-7069G>T (n.445-7069G>T) | gnomAD v4 |
| 3 | g.4418047C>G | CA351632534 | SUMF1 | c.688G>C (p.Glu230Gln) c.613G>C (p.Glu205Gln) c.445-7069G>C (n.445-7069G>C) | |
| 3 | g.4418047C>T | CA351632536 | SUMF1 | c.688G>A (p.Glu230Lys) c.613G>A (p.Glu205Lys) c.445-7069G>A (n.445-7069G>A) | |
| 3 | g.4418048A>C | CA432313600 | SUMF1 | c.687T>G (p.Ala229=) c.612T>G (p.Ala204=) c.445-7070T>G (n.445-7070T>G) | |
| 3 | g.4418048A>G | CA432313602 | SUMF1 | c.687T>C (p.Ala229=) c.612T>C (p.Ala204=) c.445-7070T>C (n.445-7070T>C) | dbSNP gnomAD v4 |
| 3 | g.4418048A>T | CA432313603 | SUMF1 | c.687T>A (p.Ala229=) c.612T>A (p.Ala204=) c.445-7070T>A (n.445-7070T>A) | |
| 3 | g.4418049G>A | CA351632538 | SUMF1 | c.686C>T (p.Ala229Val) c.611C>T (p.Ala204Val) c.445-7071C>T (n.445-7071C>T) | |
| 3 | g.4418049G>C | CA351632539 | SUMF1 | c.686C>G (p.Ala229Gly) c.611C>G (p.Ala204Gly) c.445-7071C>G (n.445-7071C>G) | |
| 3 | g.4418049G>T | CA351632540 | SUMF1 | c.686C>A (p.Ala229Asp) c.611C>A (p.Ala204Asp) c.445-7071C>A (n.445-7071C>A) | |
| 3 | g.4418050C>A | CA351632541 | SUMF1 | c.685G>T (p.Ala229Ser) c.610G>T (p.Ala204Ser) c.445-7072G>T (n.445-7072G>T) | |
| 3 | g.4418050C>G | CA351632542 | SUMF1 | c.685G>C (p.Ala229Pro) c.610G>C (p.Ala204Pro) c.445-7072G>C (n.445-7072G>C) | |
| 3 | g.4418050C>T | CA351632543 | SUMF1 | c.685G>A (p.Ala229Thr) c.610G>A (p.Ala204Thr) c.445-7072G>A (n.445-7072G>A) | |
| 3 | g.4418051T>A | CA351632544 | SUMF1 | c.684A>T (p.Glu228Asp) c.609A>T (p.Glu203Asp) c.445-7073A>T (n.445-7073A>T) | |
| 3 | g.4418051T>C | CA432313631 | SUMF1 | c.684A>G (p.Glu228=) c.609A>G (p.Glu203=) c.445-7073A>G (n.445-7073A>G) | ClinVar dbSNP |
| 3 | g.4418051T>G | CA351632546 | SUMF1 | c.684A>C (p.Glu228Asp) c.609A>C (p.Glu203Asp) c.445-7073A>C (n.445-7073A>C) | |
| 3 | g.4418051T= | CA1342154200 | SUMF1 | c.684A= (p.Glu228=) c.609A= (p.Glu203=) c.445-7073A= (n.445-7073A=) | |
| 3 | g.4418052T>A | CA351632548 | SUMF1 | c.683A>T (p.Glu228Val) c.608A>T (p.Glu203Val) c.445-7074A>T (n.445-7074A>T) | |
| 3 | g.4418052T>C | CA351632550 | SUMF1 | c.683A>G (p.Glu228Gly) c.608A>G (p.Glu203Gly) c.445-7074A>G (n.445-7074A>G) | gnomAD v4 |
| 3 | g.4418052T>G | CA351632558 | SUMF1 | c.683A>C (p.Glu228Ala) c.608A>C (p.Glu203Ala) c.445-7074A>C (n.445-7074A>C) | |
| 3 | g.4418053C>A | CA351632562 | SUMF1 | c.682G>T (p.Glu228Ter) c.607G>T (p.Glu203Ter) c.445-7075G>T (n.445-7075G>T) | |
| 3 | g.4418053C>G | CA351632563 | SUMF1 | c.682G>C (p.Glu228Gln) c.607G>C (p.Glu203Gln) c.445-7075G>C (n.445-7075G>C) | |
| 3 | g.4418053C>T | CA351632564 | SUMF1 | c.682G>A (p.Glu228Lys) c.607G>A (p.Glu203Lys) c.445-7075G>A (n.445-7075G>A) | |
| 3 | g.4418054_4418082del | CA2664206516 | SUMF1 | c.654_682del (p.Cys218Ter) c.579_607del (p.Cys193Ter) c.445-7103_445-7075del (n.445-7103_445-7075del) | gnomAD v4 |
| 3 | g.4418054C>A | CA432313646 | SUMF1 | c.681G>T (p.Thr227=) c.606G>T (p.Thr202=) c.445-7076G>T (n.445-7076G>T) | |
| 3 | g.4418054C= | CA1342154202 | SUMF1 | c.681G= (p.Thr227=) c.606G= (p.Thr202=) c.445-7076G= (n.445-7076G=) | |
| 3 | g.4418054C>G | CA432313648 | SUMF1 | c.681G>C (p.Thr227=) c.606G>C (p.Thr202=) c.445-7076G>C (n.445-7076G>C) | dbSNP gnomAD v4 |
| 3 | g.4418054C>T | CA2230498 | SUMF1 | c.681G>A (p.Thr227=) c.606G>A (p.Thr202=) c.445-7076G>A (n.445-7076G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418055G>A | CA2230499 | SUMF1 | c.680C>T (p.Thr227Met) c.605C>T (p.Thr202Met) c.445-7077C>T (n.445-7077C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418055G>C | CA2230500 | SUMF1 | c.680C>G (p.Thr227Arg) c.605C>G (p.Thr202Arg) c.445-7077C>G (n.445-7077C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418055G= | CA1342154210 | SUMF1 | c.680C= (p.Thr227=) c.605C= (p.Thr202=) c.445-7077C= (n.445-7077C=) | |
| 3 | g.4418055G>T | CA351632572 | SUMF1 | c.680C>A (p.Thr227Lys) c.605C>A (p.Thr202Lys) c.445-7077C>A (n.445-7077C>A) | gnomAD v4 |
| 3 | g.4418056T>A | CA351632574 | SUMF1 | c.679A>T (p.Thr227Ser) c.604A>T (p.Thr202Ser) c.445-7078A>T (n.445-7078A>T) | |
| 3 | g.4418056T>C | CA351632575 | SUMF1 | c.679A>G (p.Thr227Ala) c.604A>G (p.Thr202Ala) c.445-7078A>G (n.445-7078A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418056T>G | CA351632576 | SUMF1 | c.679A>C (p.Thr227Pro) c.604A>C (p.Thr202Pro) c.445-7078A>C (n.445-7078A>C) | |
| 3 | g.4418056T= | CA1342154214 | SUMF1 | c.679A= (p.Thr227=) c.604A= (p.Thr202=) c.445-7078A= (n.445-7078A=) | |
| 3 | g.4418057G>A | CA432313666 | SUMF1 | c.678C>T (p.Pro226=) c.603C>T (p.Pro201=) c.445-7079C>T (n.445-7079C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418057G>C | CA432313667 | SUMF1 | c.678C>G (p.Pro226=) c.603C>G (p.Pro201=) c.445-7079C>G (n.445-7079C>G) | |
| 3 | g.4418057G= | CA1342154218 | SUMF1 | c.678C= (p.Pro226=) c.603C= (p.Pro201=) c.445-7079C= (n.445-7079C=) | |
| 3 | g.4418057G>T | CA432313668 | SUMF1 | c.678C>A (p.Pro226=) c.603C>A (p.Pro201=) c.445-7079C>A (n.445-7079C>A) | |
| 3 | g.4418058G>A | CA351632579 | SUMF1 | c.677C>T (p.Pro226Leu) c.602C>T (p.Pro201Leu) c.445-7080C>T (n.445-7080C>T) | |
| 3 | g.4418058G>C | CA351632577 | SUMF1 | c.677C>G (p.Pro226Arg) c.602C>G (p.Pro201Arg) c.445-7080C>G (n.445-7080C>G) | |
| 3 | g.4418058G>T | CA351632578 | SUMF1 | c.677C>A (p.Pro226His) c.602C>A (p.Pro201His) c.445-7080C>A (n.445-7080C>A) | |
| 3 | g.4418059G>A | CA351632580 | SUMF1 | c.676C>T (p.Pro226Ser) c.601C>T (p.Pro201Ser) c.445-7081C>T (n.445-7081C>T) | gnomAD v4 |
| 3 | g.4418059G>C | CA2230501 | SUMF1 | c.676C>G (p.Pro226Ala) c.601C>G (p.Pro201Ala) c.445-7081C>G (n.445-7081C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418059G= | CA1342154220 | SUMF1 | c.676C= (p.Pro226=) c.601C= (p.Pro201=) c.445-7081C= (n.445-7081C=) | |
| 3 | g.4418059G>T | CA351632582 | SUMF1 | c.676C>A (p.Pro226Thr) c.601C>A (p.Pro201Thr) c.445-7081C>A (n.445-7081C>A) | |
| 3 | g.4418060C>A | CA432313687 | SUMF1 | c.675G>T (p.Leu225=) c.600G>T (p.Leu200=) c.445-7082G>T (n.445-7082G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.4418060C= | CA1342154225 | SUMF1 | c.675G= (p.Leu225=) c.600G= (p.Leu200=) c.445-7082G= (n.445-7082G=) | |
| 3 | g.4418060C>G | CA432313690 | SUMF1 | c.675G>C (p.Leu225=) c.600G>C (p.Leu200=) c.445-7082G>C (n.445-7082G>C) | gnomAD v4 |
| 3 | g.4418060C>T | CA2230502 | SUMF1 | c.675G>A (p.Leu225=) c.600G>A (p.Leu200=) c.445-7082G>A (n.445-7082G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418060dup | CA2580069165 | SUMF1 | c.675dup (p.Pro226AlafsTer5) c.600dup (p.Pro201AlafsTer5) c.445-7082dup (n.445-7082dup) | ClinVar |
| 3 | g.4418061A>C | CA351632586 | SUMF1 | c.674T>G (p.Leu225Arg) c.599T>G (p.Leu200Arg) c.445-7083T>G (n.445-7083T>G) | |
| 3 | g.4418061A>G | CA351632587 | SUMF1 | c.674T>C (p.Leu225Pro) c.599T>C (p.Leu200Pro) c.445-7083T>C (n.445-7083T>C) | gnomAD v4 |
| 3 | g.4418061A>T | CA351632589 | SUMF1 | c.674T>A (p.Leu225Gln) c.599T>A (p.Leu200Gln) c.445-7083T>A (n.445-7083T>A) | |
| 3 | g.4418062G>A | CA432313699 | SUMF1 | c.673C>T (p.Leu225=) c.598C>T (p.Leu200=) c.445-7084C>T (n.445-7084C>T) | |
| 3 | g.4418062G>C | CA351632591 | SUMF1 | c.673C>G (p.Leu225Val) c.598C>G (p.Leu200Val) c.445-7084C>G (n.445-7084C>G) | |
| 3 | g.4418062G>T | CA351632594 | SUMF1 | c.673C>A (p.Leu225Met) c.598C>A (p.Leu200Met) c.445-7084C>A (n.445-7084C>A) | |
| 3 | g.4418063C>A | CA432313710 | SUMF1 | c.672G>T (p.Arg224=) c.597G>T (p.Arg199=) c.445-7085G>T (n.445-7085G>T) | |
| 3 | g.4418063C= | CA1342154227 | SUMF1 | c.672G= (p.Arg224=) c.597G= (p.Arg199=) c.445-7085G= (n.445-7085G=) | |
| 3 | g.4418063C>G | CA432313714 | SUMF1 | c.672G>C (p.Arg224=) c.597G>C (p.Arg199=) c.445-7085G>C (n.445-7085G>C) | dbSNP |
| 3 | g.4418063C>T | CA432313719 | SUMF1 | c.672G>A (p.Arg224=) c.597G>A (p.Arg199=) c.445-7085G>A (n.445-7085G>A) | dbSNP gnomAD v4 |
| 3 | g.4418064C>A | CA351632598 | SUMF1 | c.671G>T (p.Arg224Leu) c.596G>T (p.Arg199Leu) c.445-7086G>T (n.445-7086G>T) | |
| 3 | g.4418064C= | CA1342154233 | SUMF1 | c.671G= (p.Arg224=) c.596G= (p.Arg199=) c.445-7086G= (n.445-7086G=) | |
| 3 | g.4418064C>G | CA351632599 | SUMF1 | c.671G>C (p.Arg224Pro) c.596G>C (p.Arg199Pro) c.445-7086G>C (n.445-7086G>C) | ClinVar gnomAD v4 |
| 3 | g.4418064C>T | CA351632600 | SUMF1 | c.671G>A (p.Arg224Gln) c.596G>A (p.Arg199Gln) c.445-7086G>A (n.445-7086G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418065G>A | CA2230503 | SUMF1 | c.670C>T (p.Arg224Trp) c.595C>T (p.Arg199Trp) c.445-7087C>T (n.445-7087C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418065G>C | CA351632603 | SUMF1 | c.670C>G (p.Arg224Gly) c.595C>G (p.Arg199Gly) c.445-7087C>G (n.445-7087C>G) | |
| 3 | g.4418065G= | CA1342154239 | SUMF1 | c.670C= (p.Arg224=) c.595C= (p.Arg199=) c.445-7087C= (n.445-7087C=) | |
| 3 | g.4418065G>T | CA432313737 | SUMF1 | c.670C>A (p.Arg224=) c.595C>A (p.Arg199=) c.445-7087C>A (n.445-7087C>A) | |
| 3 | g.4418066C>A | CA351632608 | SUMF1 | c.669G>T (p.Lys223Asn) c.594G>T (p.Lys198Asn) c.445-7088G>T (n.445-7088G>T) | |
| 3 | g.4418066C>G | CA351632607 | SUMF1 | c.669G>C (p.Lys223Asn) c.594G>C (p.Lys198Asn) c.445-7088G>C (n.445-7088G>C) | |
| 3 | g.4418066C>T | CA432313741 | SUMF1 | c.669G>A (p.Lys223=) c.594G>A (p.Lys198=) c.445-7088G>A (n.445-7088G>A) | |
| 3 | g.4418067T>A | CA351632611 | SUMF1 | c.668A>T (p.Lys223Met) c.593A>T (p.Lys198Met) c.445-7089A>T (n.445-7089A>T) | |
| 3 | g.4418067T>C | CA351632619 | SUMF1 | c.668A>G (p.Lys223Arg) c.593A>G (p.Lys198Arg) c.445-7089A>G (n.445-7089A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418067T>G | CA351632621 | SUMF1 | c.668A>C (p.Lys223Thr) c.593A>C (p.Lys198Thr) c.445-7089A>C (n.445-7089A>C) | |
| 3 | g.4418067T= | CA1342154242 | SUMF1 | c.668A= (p.Lys223=) c.593A= (p.Lys198=) c.445-7089A= (n.445-7089A=) | |
| 3 | g.4418068del | CA2573136906 | SUMF1 | c.668del (p.Lys223SerfsTer?) c.593del (p.Lys198SerfsTer?) c.445-7089del (n.445-7089del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.4418068T>A | CA351632624 | SUMF1 | c.667A>T (p.Lys223Ter) c.592A>T (p.Lys198Ter) c.445-7090A>T (n.445-7090A>T) | |
| 3 | g.4418068T>C | CA351632626 | SUMF1 | c.667A>G (p.Lys223Glu) c.592A>G (p.Lys198Glu) c.445-7090A>G (n.445-7090A>G) | |
| 3 | g.4418068T>G | CA351632628 | SUMF1 | c.667A>C (p.Lys223Gln) c.592A>C (p.Lys198Gln) c.445-7090A>C (n.445-7090A>C) | |
| 3 | g.4418069C>A | CA432313779 | SUMF1 | c.666G>T (p.Gly222=) c.591G>T (p.Gly197=) c.445-7091G>T (n.445-7091G>T) | |
| 3 | g.4418069C= | CA1342154246 | SUMF1 | c.666G= (p.Gly222=) c.591G= (p.Gly197=) c.445-7091G= (n.445-7091G=) | |
| 3 | g.4418069C>G | CA432313782 | SUMF1 | c.666G>C (p.Gly222=) c.591G>C (p.Gly197=) c.445-7091G>C (n.445-7091G>C) | |
| 3 | g.4418069C>T | CA432313785 | SUMF1 | c.666G>A (p.Gly222=) c.591G>A (p.Gly197=) c.445-7091G>A (n.445-7091G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418070C>A | CA351632630 | SUMF1 | c.665G>T (p.Gly222Val) c.590G>T (p.Gly197Val) c.445-7092G>T (n.445-7092G>T) | |
| 3 | g.4418070C= | CA1342154250 | SUMF1 | c.665G= (p.Gly222=) c.590G= (p.Gly197=) c.445-7092G= (n.445-7092G=) | |
| 3 | g.4418070C>G | CA351632632 | SUMF1 | c.665G>C (p.Gly222Ala) c.590G>C (p.Gly197Ala) c.445-7092G>C (n.445-7092G>C) | |
| 3 | g.4418070C>T | CA2230504 | SUMF1 | c.665G>A (p.Gly222Glu) c.590G>A (p.Gly197Glu) c.445-7092G>A (n.445-7092G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418071C>A | CA351632640 | SUMF1 | c.664G>T (p.Gly222Trp) c.589G>T (p.Gly197Trp) c.445-7093G>T (n.445-7093G>T) | |
| 3 | g.4418071C= | CA1342154254 | SUMF1 | c.664G= (p.Gly222=) c.589G= (p.Gly197=) c.445-7093G= (n.445-7093G=) | |
| 3 | g.4418071C>G | CA2230505 | SUMF1 | c.664G>C (p.Gly222Arg) c.589G>C (p.Gly197Arg) c.445-7093G>C (n.445-7093G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418071C>T | CA351632643 | SUMF1 | c.664G>A (p.Gly222Arg) c.589G>A (p.Gly197Arg) c.445-7093G>A (n.445-7093G>A) | |
| 3 | g.4418072T>A | CA432313803 | SUMF1 | c.663A>T (p.Ala221=) c.588A>T (p.Ala196=) c.445-7094A>T (n.445-7094A>T) | |
| 3 | g.4418072T>C | CA432313808 | SUMF1 | c.663A>G (p.Ala221=) c.588A>G (p.Ala196=) c.445-7094A>G (n.445-7094A>G) | dbSNP gnomAD v4 |
| 3 | g.4418072T>G | CA2230506 | SUMF1 | c.663A>C (p.Ala221=) c.588A>C (p.Ala196=) c.445-7094A>C (n.445-7094A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418072T= | CA1342154261 | SUMF1 | c.663A= (p.Ala221=) c.588A= (p.Ala196=) c.445-7094A= (n.445-7094A=) | |
| 3 | g.4418073G>A | CA351632651 | SUMF1 | c.662C>T (p.Ala221Val) c.587C>T (p.Ala196Val) c.445-7095C>T (n.445-7095C>T) | |
| 3 | g.4418073G>C | CA351632654 | SUMF1 | c.662C>G (p.Ala221Gly) c.587C>G (p.Ala196Gly) c.445-7095C>G (n.445-7095C>G) | |
| 3 | g.4418073G>T | CA351632652 | SUMF1 | c.662C>A (p.Ala221Glu) c.587C>A (p.Ala196Glu) c.445-7095C>A (n.445-7095C>A) | |
| 3 | g.4418073_4418074delinsGC | CA1342154265 | SUMF1 | c.661_662delinsGC (p.Ala221=) c.586_587delinsGC (p.Ala196=) c.445-7096_445-7095delinsGC (n.445-7096_445-7095delinsGC) | |
| 3 | g.4418074C>A | CA351632657 | SUMF1 | c.661G>T (p.Ala221Ser) c.586G>T (p.Ala196Ser) c.445-7096G>T (n.445-7096G>T) | |
| 3 | g.4418074C= | CA1342154270 | SUMF1 | c.661G= (p.Ala221=) c.586G= (p.Ala196=) c.445-7096G= (n.445-7096G=) | |
| 3 | g.4418074C>G | CA351632659 | SUMF1 | c.661G>C (p.Ala221Pro) c.586G>C (p.Ala196Pro) c.445-7096G>C (n.445-7096G>C) | |
| 3 | g.4418074C>T | CA2230507 | SUMF1 | c.661G>A (p.Ala221Thr) c.586G>A (p.Ala196Thr) c.445-7096G>A (n.445-7096G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418076del | CA212800 | SUMF1 | c.661del (p.Ala221GlnfsTer?) c.586del (p.Ala196GlnfsTer?) c.445-7096del (n.445-7096del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418075C>A | CA351632663 | SUMF1 | c.660G>T (p.Trp220Cys) c.585G>T (p.Trp195Cys) c.445-7097G>T (n.445-7097G>T) | COSMIC COSMIC |
| 3 | g.4418075C>G | CA351632665 | SUMF1 | c.660G>C (p.Trp220Cys) c.585G>C (p.Trp195Cys) c.445-7097G>C (n.445-7097G>C) | |
| 3 | g.4418075C>T | CA351632667 | SUMF1 | c.660G>A (p.Trp220Ter) c.585G>A (p.Trp195Ter) c.445-7097G>A (n.445-7097G>A) | |
| 3 | g.4418076C>A | CA351632669 | SUMF1 | c.659G>T (p.Trp220Leu) c.584G>T (p.Trp195Leu) c.445-7098G>T (n.445-7098G>T) | gnomAD v4 |
| 3 | g.4418076C= | CA1342154279 | SUMF1 | c.659G= (p.Trp220=) c.584G= (p.Trp195=) c.445-7098G= (n.445-7098G=) | |
| 3 | g.4418076C>G | CA351632671 | SUMF1 | c.659G>C (p.Trp220Ser) c.584G>C (p.Trp195Ser) c.445-7098G>C (n.445-7098G>C) | dbSNP gnomAD v4 |
| 3 | g.4418076C>T | CA351632673 | SUMF1 | c.659G>A (p.Trp220Ter) c.584G>A (p.Trp195Ter) c.445-7098G>A (n.445-7098G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.4418077A>C | CA351632675 | SUMF1 | c.658T>G (p.Trp220Gly) c.583T>G (p.Trp195Gly) c.445-7099T>G (n.445-7099T>G) | |
| 3 | g.4418077A>G | CA351632676 | SUMF1 | c.658T>C (p.Trp220Arg) c.583T>C (p.Trp195Arg) c.445-7099T>C (n.445-7099T>C) | |
| 3 | g.4418077A>T | CA351632677 | SUMF1 | c.658T>A (p.Trp220Arg) c.583T>A (p.Trp195Arg) c.445-7099T>A (n.445-7099T>A) | |
| 3 | g.4418078A>C | CA432313850 | SUMF1 | c.657T>G (p.Thr219=) c.582T>G (p.Thr194=) c.445-7100T>G (n.445-7100T>G) | |
| 3 | g.4418078A>G | CA432313856 | SUMF1 | c.657T>C (p.Thr219=) c.582T>C (p.Thr194=) c.445-7100T>C (n.445-7100T>C) | |
| 3 | g.4418078A>T | CA432313858 | SUMF1 | c.657T>A (p.Thr219=) c.582T>A (p.Thr194=) c.445-7100T>A (n.445-7100T>A) | |
| 3 | g.4418079_4418109del | CA2739278161 | SUMF1 | c.627_657del (p.Ser210GlyfsTer?) c.552_582del (p.Ser185GlyfsTer?) c.445-7130_445-7100del (n.445-7130_445-7100del) | ClinVar |
| 3 | g.4418079G>A | CA351632680 | SUMF1 | c.656C>T (p.Thr219Ile) c.581C>T (p.Thr194Ile) c.445-7101C>T (n.445-7101C>T) | |
| 3 | g.4418079G>C | CA351632679 | SUMF1 | c.656C>G (p.Thr219Ser) c.581C>G (p.Thr194Ser) c.445-7101C>G (n.445-7101C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418079G= | CA1342154282 | SUMF1 | c.656C= (p.Thr219=) c.581C= (p.Thr194=) c.445-7101C= (n.445-7101C=) | |
| 3 | g.4418079G>T | CA351632678 | SUMF1 | c.656C>A (p.Thr219Asn) c.581C>A (p.Thr194Asn) c.445-7101C>A (n.445-7101C>A) | |
| 3 | g.4418080T>A | CA351632684 | SUMF1 | c.655A>T (p.Thr219Ser) c.580A>T (p.Thr194Ser) c.445-7102A>T (n.445-7102A>T) | |
| 3 | g.4418080T>C | CA351632686 | SUMF1 | c.655A>G (p.Thr219Ala) c.580A>G (p.Thr194Ala) c.445-7102A>G (n.445-7102A>G) | gnomAD v4 |
| 3 | g.4418080T>G | CA351632688 | SUMF1 | c.655A>C (p.Thr219Pro) c.580A>C (p.Thr194Pro) c.445-7102A>C (n.445-7102A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418080T= | CA1342154284 | SUMF1 | c.655A= (p.Thr219=) c.580A= (p.Thr194=) c.445-7102A= (n.445-7102A=) | |
| 3 | g.4418081G>A | CA432313876 | SUMF1 | c.654C>T (p.Cys218=) c.579C>T (p.Cys193=) c.445-7103C>T (n.445-7103C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418081G>C | CA351632690 | SUMF1 | c.654C>G (p.Cys218Trp) c.579C>G (p.Cys193Trp) c.445-7103C>G (n.445-7103C>G) | |
| 3 | g.4418081G= | CA1342154288 | SUMF1 | c.654C= (p.Cys218=) c.579C= (p.Cys193=) c.445-7103C= (n.445-7103C=) | |
| 3 | g.4418081G>T | CA351632692 | SUMF1 | c.654C>A (p.Cys218Ter) c.579C>A (p.Cys193Ter) c.445-7103C>A (n.445-7103C>A) | |
| 3 | g.4418082C>A | CA351632695 | SUMF1 | c.653G>T (p.Cys218Phe) c.578G>T (p.Cys193Phe) c.445-7104G>T (n.445-7104G>T) | |
| 3 | g.4418082C= | CA1342154292 | SUMF1 | c.653G= (p.Cys218=) c.578G= (p.Cys193=) c.445-7104G= (n.445-7104G=) | |
| 3 | g.4418082C>G | CA351632697 | SUMF1 | c.653G>C (p.Cys218Ser) c.578G>C (p.Cys193Ser) c.445-7104G>C (n.445-7104G>C) | |
| 3 | g.4418082C>T | CA115680 | SUMF1 | c.653G>A (p.Cys218Tyr) c.578G>A (p.Cys193Tyr) c.445-7104G>A (n.445-7104G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418083A>C | CA351632699 | SUMF1 | c.652T>G (p.Cys218Gly) c.577T>G (p.Cys193Gly) c.445-7105T>G (n.445-7105T>G) | |
| 3 | g.4418083A>G | CA351632700 | SUMF1 | c.652T>C (p.Cys218Arg) c.577T>C (p.Cys193Arg) c.445-7105T>C (n.445-7105T>C) | gnomAD v4 |
| 3 | g.4418083A>T | CA351632701 | SUMF1 | c.652T>A (p.Cys218Ser) c.577T>A (p.Cys193Ser) c.445-7105T>A (n.445-7105T>A) | gnomAD v4 |
| 3 | g.4418084G>A | CA2230508 | SUMF1 | c.651C>T (p.Tyr217=) c.576C>T (p.Tyr192=) c.445-7106C>T (n.445-7106C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418084G>C | CA351632703 | SUMF1 | c.651C>G (p.Tyr217Ter) c.576C>G (p.Tyr192Ter) c.445-7106C>G (n.445-7106C>G) | |
| 3 | g.4418084G= | CA1342154297 | SUMF1 | c.651C= (p.Tyr217=) c.576C= (p.Tyr192=) c.445-7106C= (n.445-7106C=) | |
| 3 | g.4418084G>T | CA351632704 | SUMF1 | c.651C>A (p.Tyr217Ter) c.576C>A (p.Tyr192Ter) c.445-7106C>A (n.445-7106C>A) | |
| 3 | g.4418085T>A | CA351632707 | SUMF1 | c.650A>T (p.Tyr217Phe) c.575A>T (p.Tyr192Phe) c.445-7107A>T (n.445-7107A>T) | |
| 3 | g.4418085T>C | CA351632706 | SUMF1 | c.650A>G (p.Tyr217Cys) c.575A>G (p.Tyr192Cys) c.445-7107A>G (n.445-7107A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418085T>G | CA351632705 | SUMF1 | c.650A>C (p.Tyr217Ser) c.575A>C (p.Tyr192Ser) c.445-7107A>C (n.445-7107A>C) | |
| 3 | g.4418085T= | CA1342154301 | SUMF1 | c.650A= (p.Tyr217=) c.575A= (p.Tyr192=) c.445-7107A= (n.445-7107A=) | |
| 3 | g.4418086A>C | CA351632708 | SUMF1 | c.649T>G (p.Tyr217Asp) c.574T>G (p.Tyr192Asp) c.445-7108T>G (n.445-7108T>G) | |
| 3 | g.4418086A>G | CA351632709 | SUMF1 | c.649T>C (p.Tyr217His) c.574T>C (p.Tyr192His) c.445-7108T>C (n.445-7108T>C) | |
| 3 | g.4418086A>T | CA351632710 | SUMF1 | c.649T>A (p.Tyr217Asn) c.574T>A (p.Tyr192Asn) c.445-7108T>A (n.445-7108T>A) | |
| 3 | g.4418087G>A | CA432313915 | SUMF1 | c.648C>T (p.Ala216=) c.573C>T (p.Ala191=) c.445-7109C>T (n.445-7109C>T) | |
| 3 | g.4418087G>C | CA432313923 | SUMF1 | c.648C>G (p.Ala216=) c.573C>G (p.Ala191=) c.445-7109C>G (n.445-7109C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418087G= | CA1342154305 | SUMF1 | c.648C= (p.Ala216=) c.573C= (p.Ala191=) c.445-7109C= (n.445-7109C=) | |
| 3 | g.4418087G>T | CA432313920 | SUMF1 | c.648C>A (p.Ala216=) c.573C>A (p.Ala191=) c.445-7109C>A (n.445-7109C>A) | |
| 3 | g.4418088G>A | CA351632711 | SUMF1 | c.647C>T (p.Ala216Val) c.572C>T (p.Ala191Val) c.445-7110C>T (n.445-7110C>T) | |
| 3 | g.4418088G>C | CA351632712 | SUMF1 | c.647C>G (p.Ala216Gly) c.572C>G (p.Ala191Gly) c.445-7110C>G (n.445-7110C>G) | |
| 3 | g.4418088G>T | CA351632713 | SUMF1 | c.647C>A (p.Ala216Asp) c.572C>A (p.Ala191Asp) c.445-7110C>A (n.445-7110C>A) | |
| 3 | g.4418089C>A | CA351632714 | SUMF1 | c.646G>T (p.Ala216Ser) c.571G>T (p.Ala191Ser) c.445-7111G>T (n.445-7111G>T) | |
| 3 | g.4418089C>G | CA351632715 | SUMF1 | c.646G>C (p.Ala216Pro) c.571G>C (p.Ala191Pro) c.445-7111G>C (n.445-7111G>C) | |
| 3 | g.4418089C>T | CA351632716 | SUMF1 | c.646G>A (p.Ala216Thr) c.571G>A (p.Ala191Thr) c.445-7111G>A (n.445-7111G>A) | |
| 3 | g.4418090A= | CA1342154309 | SUMF1 | c.645T= (p.Val215=) c.570T= (p.Val190=) c.445-7112T= (n.445-7112T=) | |
| 3 | g.4418090A>C | CA432313946 | SUMF1 | c.645T>G (p.Val215=) c.570T>G (p.Val190=) c.445-7112T>G (n.445-7112T>G) | |
| 3 | g.4418090A>G | CA2230509 | SUMF1 | c.645T>C (p.Val215=) c.570T>C (p.Val190=) c.445-7112T>C (n.445-7112T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418090A>T | CA432313947 | SUMF1 | c.645T>A (p.Val215=) c.570T>A (p.Val190=) c.445-7112T>A (n.445-7112T>A) | |
| 3 | g.4418091A= | CA1342154313 | SUMF1 | c.644T= (p.Val215=) c.569T= (p.Val190=) c.445-7113T= (n.445-7113T=) | |
| 3 | g.4418091A>C | CA351632717 | SUMF1 | c.644T>G (p.Val215Gly) c.569T>G (p.Val190Gly) c.445-7113T>G (n.445-7113T>G) | |
| 3 | g.4418091A>G | CA351632718 | SUMF1 | c.644T>C (p.Val215Ala) c.569T>C (p.Val190Ala) c.445-7113T>C (n.445-7113T>C) | |
| 3 | g.4418091A>T | CA68802873 | SUMF1 | c.644T>A (p.Val215Asp) c.569T>A (p.Val190Asp) c.445-7113T>A (n.445-7113T>A) | dbSNP |
| 3 | g.4418092C>A | CA351632722 | SUMF1 | c.643G>T (p.Val215Phe) c.568G>T (p.Val190Phe) c.445-7114G>T (n.445-7114G>T) | |
| 3 | g.4418092C= | CA1342154316 | SUMF1 | c.643G= (p.Val215=) c.568G= (p.Val190=) c.445-7114G= (n.445-7114G=) | |
| 3 | g.4418092C>G | CA351632721 | SUMF1 | c.643G>C (p.Val215Leu) c.568G>C (p.Val190Leu) c.445-7114G>C (n.445-7114G>C) | |
| 3 | g.4418092C>T | CA351632719 | SUMF1 | c.643G>A (p.Val215Ile) c.568G>A (p.Val190Ile) c.445-7114G>A (n.445-7114G>A) | dbSNP gnomAD v2 |
| 3 | g.4418093C>A | CA2230511 | SUMF1 | c.642G>T (p.Ala214=) c.567G>T (p.Ala189=) c.445-7115G>T (n.445-7115G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418093C= | CA1342154319 | SUMF1 | c.642G= (p.Ala214=) c.567G= (p.Ala189=) c.445-7115G= (n.445-7115G=) | |
| 3 | g.4418093C>G | CA432313961 | SUMF1 | c.642G>C (p.Ala214=) c.567G>C (p.Ala189=) c.445-7115G>C (n.445-7115G>C) | gnomAD v4 |
| 3 | g.4418093C>T | CA2230510 | SUMF1 | c.642G>A (p.Ala214=) c.567G>A (p.Ala189=) c.445-7115G>A (n.445-7115G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418094G>A | CA2230512 | SUMF1 | c.641C>T (p.Ala214Val) c.566C>T (p.Ala189Val) c.445-7116C>T (n.445-7116C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418094G>C | CA351632723 | SUMF1 | c.641C>G (p.Ala214Gly) c.566C>G (p.Ala189Gly) c.445-7116C>G (n.445-7116C>G) | |
| 3 | g.4418094G= | CA1342154323 | SUMF1 | c.641C= (p.Ala214=) c.566C= (p.Ala189=) c.445-7116C= (n.445-7116C=) | |
| 3 | g.4418094G>T | CA351632724 | SUMF1 | c.641C>A (p.Ala214Glu) c.566C>A (p.Ala189Glu) c.445-7116C>A (n.445-7116C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418095C>A | CA351632725 | SUMF1 | c.640G>T (p.Ala214Ser) c.565G>T (p.Ala189Ser) c.445-7117G>T (n.445-7117G>T) | |
| 3 | g.4418095C>G | CA351632726 | SUMF1 | c.640G>C (p.Ala214Pro) c.565G>C (p.Ala189Pro) c.445-7117G>C (n.445-7117G>C) | |
| 3 | g.4418095C>T | CA351632727 | SUMF1 | c.640G>A (p.Ala214Thr) c.565G>A (p.Ala189Thr) c.445-7117G>A (n.445-7117G>A) | gnomAD v4 |
| 3 | g.4418096A>C | CA351632728 | SUMF1 | c.639T>G (p.Asp213Glu) c.564T>G (p.Asp188Glu) c.445-7118T>G (n.445-7118T>G) | |
| 3 | g.4418096A>G | CA432313991 | SUMF1 | c.639T>C (p.Asp213=) c.564T>C (p.Asp188=) c.445-7118T>C (n.445-7118T>C) | gnomAD v4 |
| 3 | g.4418096A>T | CA351632729 | SUMF1 | c.639T>A (p.Asp213Glu) c.564T>A (p.Asp188Glu) c.445-7118T>A (n.445-7118T>A) | gnomAD v4 |
| 3 | g.4418097T>A | CA351632730 | SUMF1 | c.638A>T (p.Asp213Val) c.563A>T (p.Asp188Val) c.445-7119A>T (n.445-7119A>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.4418097T>C | CA2230513 | SUMF1 | c.638A>G (p.Asp213Gly) c.563A>G (p.Asp188Gly) c.445-7119A>G (n.445-7119A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418097T>G | CA351632731 | SUMF1 | c.638A>C (p.Asp213Ala) c.563A>C (p.Asp188Ala) c.445-7119A>C (n.445-7119A>C) | |
| 3 | g.4418097T= | CA1342154325 | SUMF1 | c.638A= (p.Asp213=) c.563A= (p.Asp188=) c.445-7119A= (n.445-7119A=) | |
| 3 | g.4418098C>A | CA351632733 | SUMF1 | c.637G>T (p.Asp213Tyr) c.562G>T (p.Asp188Tyr) c.445-7120G>T (n.445-7120G>T) | |
| 3 | g.4418098C>G | CA351632734 | SUMF1 | c.637G>C (p.Asp213His) c.562G>C (p.Asp188His) c.445-7120G>C (n.445-7120G>C) | |
| 3 | g.4418098C>T | CA351632732 | SUMF1 | c.637G>A (p.Asp213Asn) c.562G>A (p.Asp188Asn) c.445-7120G>A (n.445-7120G>A) | |
| 3 | g.4418099A>C | CA351632735 | SUMF1 | c.636T>G (p.Asn212Lys) c.561T>G (p.Asn187Lys) c.445-7121T>G (n.445-7121T>G) | |
| 3 | g.4418099A>G | CA432314006 | SUMF1 | c.636T>C (p.Asn212=) c.561T>C (p.Asn187=) c.445-7121T>C (n.445-7121T>C) | |
| 3 | g.4418099A>T | CA351632736 | SUMF1 | c.636T>A (p.Asn212Lys) c.561T>A (p.Asn187Lys) c.445-7121T>A (n.445-7121T>A) | |
| 3 | g.4418100T>A | CA351632737 | SUMF1 | c.635A>T (p.Asn212Ile) c.560A>T (p.Asn187Ile) c.445-7122A>T (n.445-7122A>T) | |
| 3 | g.4418100T>C | CA351632738 | SUMF1 | c.635A>G (p.Asn212Ser) c.560A>G (p.Asn187Ser) c.445-7122A>G (n.445-7122A>G) | gnomAD v4 |
| 3 | g.4418100T>G | CA351632739 | SUMF1 | c.635A>C (p.Asn212Thr) c.560A>C (p.Asn187Thr) c.445-7122A>C (n.445-7122A>C) | |
| 3 | g.4418101dup | CA2697550632 | SUMF1 | c.635dup (p.Asn212LysfsTer2) c.560dup (p.Asn187LysfsTer2) c.445-7122dup (n.445-7122dup) | ClinVar |
| 3 | g.4418101T>A | CA351632740 | SUMF1 | c.634A>T (p.Asn212Tyr) c.559A>T (p.Asn187Tyr) c.445-7123A>T (n.445-7123A>T) | |
| 3 | g.4418101T>C | CA351632741 | SUMF1 | c.634A>G (p.Asn212Asp) c.559A>G (p.Asn187Asp) c.445-7123A>G (n.445-7123A>G) | |
| 3 | g.4418101T>G | CA351632742 | SUMF1 | c.634A>C (p.Asn212His) c.559A>C (p.Asn187His) c.445-7123A>C (n.445-7123A>C) | |
| 3 | g.4418102C>A | CA351632743 | SUMF1 | c.633G>T (p.Trp211Cys) c.558G>T (p.Trp186Cys) c.445-7124G>T (n.445-7124G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418102C= | CA1342154327 | SUMF1 | c.633G= (p.Trp211=) c.558G= (p.Trp186=) c.445-7124G= (n.445-7124G=) | |
| 3 | g.4418102C>G | CA351632744 | SUMF1 | c.633G>C (p.Trp211Cys) c.558G>C (p.Trp186Cys) c.445-7124G>C (n.445-7124G>C) | |
| 3 | g.4418102C>T | CA351632745 | SUMF1 | c.633G>A (p.Trp211Ter) c.558G>A (p.Trp186Ter) c.445-7124G>A (n.445-7124G>A) | |
| 3 | g.4418103C>A | CA351632746 | SUMF1 | c.632G>T (p.Trp211Leu) c.557G>T (p.Trp186Leu) c.445-7125G>T (n.445-7125G>T) | |
| 3 | g.4418103C= | CA1342154331 | SUMF1 | c.632G= (p.Trp211=) c.557G= (p.Trp186=) c.445-7125G= (n.445-7125G=) | |
| 3 | g.4418103C>G | CA351632747 | SUMF1 | c.632G>C (p.Trp211Ser) c.557G>C (p.Trp186Ser) c.445-7125G>C (n.445-7125G>C) | |
| 3 | g.4418103C>T | CA351632748 | SUMF1 | c.632G>A (p.Trp211Ter) c.557G>A (p.Trp186Ter) c.445-7125G>A (n.445-7125G>A) | ClinVar dbSNP |
| 3 | g.4418105_4418111del | CA2664206517 | SUMF1 | c.626_632del (p.Val209GlyfsTer?) c.551_557del (p.Val184GlyfsTer?) c.445-7131_445-7125del (n.445-7131_445-7125del) | gnomAD v4 |
| 3 | g.4418104A>C | CA351632749 | SUMF1 | c.631T>G (p.Trp211Gly) c.556T>G (p.Trp186Gly) c.445-7126T>G (n.445-7126T>G) | |
| 3 | g.4418104A>G | CA351632751 | SUMF1 | c.631T>C (p.Trp211Arg) c.556T>C (p.Trp186Arg) c.445-7126T>C (n.445-7126T>C) | |
| 3 | g.4418104A>T | CA351632750 | SUMF1 | c.631T>A (p.Trp211Arg) c.556T>A (p.Trp186Arg) c.445-7126T>A (n.445-7126T>A) | |
| 3 | g.4418105G>A | CA432314046 | SUMF1 | c.630C>T (p.Ser210=) c.555C>T (p.Ser185=) c.445-7127C>T (n.445-7127C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418105G>C | CA432314051 | SUMF1 | c.630C>G (p.Ser210=) c.555C>G (p.Ser185=) c.445-7127C>G (n.445-7127C>G) | |
| 3 | g.4418105G= | CA1342154335 | SUMF1 | c.630C= (p.Ser210=) c.555C= (p.Ser185=) c.445-7127C= (n.445-7127C=) | |
| 3 | g.4418105G>T | CA432314049 | SUMF1 | c.630C>A (p.Ser210=) c.555C>A (p.Ser185=) c.445-7127C>A (n.445-7127C>A) | |
| 3 | g.4418106G>A | CA351632752 | SUMF1 | c.629C>T (p.Ser210Phe) c.554C>T (p.Ser185Phe) c.445-7128C>T (n.445-7128C>T) | gnomAD v4 |
| 3 | g.4418106G>C | CA351632753 | SUMF1 | c.629C>G (p.Ser210Cys) c.554C>G (p.Ser185Cys) c.445-7128C>G (n.445-7128C>G) | |
| 3 | g.4418106G>T | CA351632754 | SUMF1 | c.629C>A (p.Ser210Tyr) c.554C>A (p.Ser185Tyr) c.445-7128C>A (n.445-7128C>A) | |
| 3 | g.4418107A>C | CA351632755 | SUMF1 | c.628T>G (p.Ser210Ala) c.553T>G (p.Ser185Ala) c.445-7129T>G (n.445-7129T>G) | |
| 3 | g.4418107A>G | CA351632756 | SUMF1 | c.628T>C (p.Ser210Pro) c.553T>C (p.Ser185Pro) c.445-7129T>C (n.445-7129T>C) | |
| 3 | g.4418107A>T | CA351632757 | SUMF1 | c.628T>A (p.Ser210Thr) c.553T>A (p.Ser185Thr) c.445-7129T>A (n.445-7129T>A) | |
| 3 | g.4418108C>A | CA432314084 | SUMF1 | c.627G>T (p.Val209=) c.552G>T (p.Val184=) c.445-7130G>T (n.445-7130G>T) | |
| 3 | g.4418108C= | CA1342154338 | SUMF1 | c.627G= (p.Val209=) c.552G= (p.Val184=) c.445-7130G= (n.445-7130G=) | |
| 3 | g.4418108C>G | CA432314087 | SUMF1 | c.627G>C (p.Val209=) c.552G>C (p.Val184=) c.445-7130G>C (n.445-7130G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418108C>T | CA2230514 | SUMF1 | c.627G>A (p.Val209=) c.552G>A (p.Val184=) c.445-7130G>A (n.445-7130G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418109A= | CA1342154346 | SUMF1 | c.626T= (p.Val209=) c.551T= (p.Val184=) c.445-7131T= (n.445-7131T=) | |
| 3 | g.4418109A>C | CA351632758 | SUMF1 | c.626T>G (p.Val209Gly) c.551T>G (p.Val184Gly) c.445-7131T>G (n.445-7131T>G) | |
| 3 | g.4418109A>G | CA2230515 | SUMF1 | c.626T>C (p.Val209Ala) c.551T>C (p.Val184Ala) c.445-7131T>C (n.445-7131T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418109A>T | CA351632759 | SUMF1 | c.626T>A (p.Val209Glu) c.551T>A (p.Val184Glu) c.445-7131T>A (n.445-7131T>A) | |
| 3 | g.4418110C>A | CA351632761 | SUMF1 | c.625G>T (p.Val209Leu) c.550G>T (p.Val184Leu) c.445-7132G>T (n.445-7132G>T) | dbSNP |
| 3 | g.4418110C= | CA1342154349 | SUMF1 | c.625G= (p.Val209=) c.550G= (p.Val184=) c.445-7132G= (n.445-7132G=) | |
| 3 | g.4418110C>G | CA351632762 | SUMF1 | c.625G>C (p.Val209Leu) c.550G>C (p.Val184Leu) c.445-7132G>C (n.445-7132G>C) | |
| 3 | g.4418110C>T | CA351632760 | SUMF1 | c.625G>A (p.Val209Met) c.550G>A (p.Val184Met) c.445-7132G>A (n.445-7132G>A) | |
| 3 | g.4418111A= | CA1342154353 | SUMF1 | c.624T= (p.His208=) c.549T= (p.His183=) c.445-7133T= (n.445-7133T=) | |
| 3 | g.4418111A>C | CA351632763 | SUMF1 | c.624T>G (p.His208Gln) c.549T>G (p.His183Gln) c.445-7133T>G (n.445-7133T>G) | |
| 3 | g.4418111A>G | CA2230516 | SUMF1 | c.624T>C (p.His208=) c.549T>C (p.His183=) c.445-7133T>C (n.445-7133T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418111A>T | CA351632764 | SUMF1 | c.624T>A (p.His208Gln) c.549T>A (p.His183Gln) c.445-7133T>A (n.445-7133T>A) | |
| 3 | g.4418111_4418119delinsATGGAGAAC | CA1342154352 | SUMF1 | c.616_624delinsGTTCTCCAT (p.Val206=) c.541_549delinsGTTCTCCAT (p.Val181=) c.445-7141_445-7133delinsGTTCTCCAT (n.445-7141_445-7133delinsGTTCTCCAT) | |
| 3 | g.4418112T>A | CA351632765 | SUMF1 | c.623A>T (p.His208Leu) c.548A>T (p.His183Leu) c.445-7134A>T (n.445-7134A>T) | |
| 3 | g.4418112T>C | CA351632766 | SUMF1 | c.623A>G (p.His208Arg) c.548A>G (p.His183Arg) c.445-7134A>G (n.445-7134A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418112T>G | CA351632767 | SUMF1 | c.623A>C (p.His208Pro) c.548A>C (p.His183Pro) c.445-7134A>C (n.445-7134A>C) | gnomAD v4 |
| 3 | g.4418112T= | CA1342154358 | SUMF1 | c.623A= (p.His208=) c.548A= (p.His183=) c.445-7134A= (n.445-7134A=) | |
| 3 | g.4418116_4418123del | CA2230517 | SUMF1 | c.616_623del (p.Val206CysfsTer5) c.541_548del (p.Val181CysfsTer5) c.445-7141_445-7134del (n.445-7141_445-7134del) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.4418113G>A | CA351632768 | SUMF1 | c.622C>T (p.His208Tyr) c.547C>T (p.His183Tyr) c.445-7135C>T (n.445-7135C>T) | COSMIC COSMIC |
| 3 | g.4418113G>C | CA351632769 | SUMF1 | c.622C>G (p.His208Asp) c.547C>G (p.His183Asp) c.445-7135C>G (n.445-7135C>G) | |
| 3 | g.4418113G>T | CA351632770 | SUMF1 | c.622C>A (p.His208Asn) c.547C>A (p.His183Asn) c.445-7135C>A (n.445-7135C>A) | |
| 3 | g.4418114G>A | CA432314134 | SUMF1 | c.621C>T (p.Leu207=) c.546C>T (p.Leu182=) c.445-7136C>T (n.445-7136C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.4418114G>C | CA2230518 | SUMF1 | c.621C>G (p.Leu207=) c.546C>G (p.Leu182=) c.445-7136C>G (n.445-7136C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.4418114G= | CA1342154361 | SUMF1 | c.621C= (p.Leu207=) c.546C= (p.Leu182=) c.445-7136C= (n.445-7136C=) | |
| 3 | g.4418114G>T | CA432314133 | SUMF1 | c.621C>A (p.Leu207=) c.546C>A (p.Leu182=) c.445-7136C>A (n.445-7136C>A) | |
| 3 | g.4418115A>C | CA351632771 | SUMF1 | c.620T>G (p.Leu207Arg) c.545T>G (p.Leu182Arg) c.445-7137T>G (n.445-7137T>G) | |
| 3 | g.4418115A>G | CA351632772 | SUMF1 | c.620T>C (p.Leu207Pro) c.545T>C (p.Leu182Pro) c.445-7137T>C (n.445-7137T>C) | |
| 3 | g.4418115A>T | CA351632773 | SUMF1 | c.620T>A (p.Leu207His) c.545T>A (p.Leu182His) c.445-7137T>A (n.445-7137T>A) | |
| 3 | g.4418116G>A | CA351632776 | SUMF1 | c.619C>T (p.Leu207Phe) c.544C>T (p.Leu182Phe) c.445-7138C>T (n.445-7138C>T) | |
| 3 | g.4418116G>C | CA351632775 | SUMF1 | c.619C>G (p.Leu207Val) c.544C>G (p.Leu182Val) c.445-7138C>G (n.445-7138C>G) | |
| 3 | g.4418116G= | CA1342154364 | SUMF1 | c.619C= (p.Leu207=) c.544C= (p.Leu182=) c.445-7138C= (n.445-7138C=) | |
| 3 | g.4418116G>T | CA351632774 | SUMF1 | c.619C>A (p.Leu207Ile) c.544C>A (p.Leu182Ile) c.445-7138C>A (n.445-7138C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4418117A>C | CA432314147 | SUMF1 | c.618T>G (p.Val206=) c.543T>G (p.Val181=) c.445-7139T>G (n.445-7139T>G) | |
| 3 | g.4418117A>G | CA432314149 | SUMF1 | c.618T>C (p.Val206=) c.543T>C (p.Val181=) c.445-7139T>C (n.445-7139T>C) | |
| 3 | g.4418117A>T | CA432314152 | SUMF1 | c.618T>A (p.Val206=) c.543T>A (p.Val181=) c.445-7139T>A (n.445-7139T>A) | |
| 3 | g.4418118A>C | CA351632777 | SUMF1 | c.617T>G (p.Val206Gly) c.542T>G (p.Val181Gly) c.445-7140T>G (n.445-7140T>G) | |
| 3 | g.4418118A>G | CA351632778 | SUMF1 | c.617T>C (p.Val206Ala) c.542T>C (p.Val181Ala) c.445-7140T>C (n.445-7140T>C) | |
| 3 | g.4418118A>T | CA351632779 | SUMF1 | c.617T>A (p.Val206Asp) c.542T>A (p.Val181Asp) c.445-7140T>A (n.445-7140T>A) | |
| 3 | g.4418119C>A | CA351632780 | SUMF1 | c.616G>T (p.Val206Phe) c.541G>T (p.Val181Phe) c.445-7141G>T (n.445-7141G>T) | |
| 3 | g.4418119C= | CA1342154366 | SUMF1 | c.616G= (p.Val206=) c.541G= (p.Val181=) c.445-7141G= (n.445-7141G=) | |
| 3 | g.4418119C>G | CA351632781 | SUMF1 | c.616G>C (p.Val206Leu) c.541G>C (p.Val181Leu) c.445-7141G>C (n.445-7141G>C) | |
| 3 | g.4418119C>T | CA351632782 | SUMF1 | c.616G>A (p.Val206Ile) c.541G>A (p.Val181Ile) c.445-7141G>A (n.445-7141G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418120T>A | CA432314173 | SUMF1 | c.615A>T (p.Pro205=) c.540A>T (p.Pro180=) c.445-7142A>T (n.445-7142A>T) | |
| 3 | g.4418120T>C | CA432314175 | SUMF1 | c.615A>G (p.Pro205=) c.540A>G (p.Pro180=) c.445-7142A>G (n.445-7142A>G) | |
| 3 | g.4418120T>G | CA432314178 | SUMF1 | c.615A>C (p.Pro205=) c.540A>C (p.Pro180=) c.445-7142A>C (n.445-7142A>C) | |
| 3 | g.4418121G>A | CA351632783 | SUMF1 | c.614C>T (p.Pro205Leu) c.539C>T (p.Pro180Leu) c.445-7143C>T (n.445-7143C>T) | |
| 3 | g.4418121G>C | CA351632784 | SUMF1 | c.614C>G (p.Pro205Arg) c.539C>G (p.Pro180Arg) c.445-7143C>G (n.445-7143C>G) | dbSNP |
| 3 | g.4418121G= | CA1342154368 | SUMF1 | c.614C= (p.Pro205=) c.539C= (p.Pro180=) c.445-7143C= (n.445-7143C=) | |
| 3 | g.4418121G>T | CA351632785 | SUMF1 | c.614C>A (p.Pro205Gln) c.539C>A (p.Pro180Gln) c.445-7143C>A (n.445-7143C>A) | |
| 3 | g.4418122G>A | CA351632786 | SUMF1 | c.613C>T (p.Pro205Ser) c.538C>T (p.Pro180Ser) c.445-7144C>T (n.445-7144C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418122G>C | CA351632787 | SUMF1 | c.613C>G (p.Pro205Ala) c.538C>G (p.Pro180Ala) c.445-7144C>G (n.445-7144C>G) | gnomAD v4 |
| 3 | g.4418122G= | CA1342154372 | SUMF1 | c.613C= (p.Pro205=) c.538C= (p.Pro180=) c.445-7144C= (n.445-7144C=) | |
| 3 | g.4418122G>T | CA351632788 | SUMF1 | c.613C>A (p.Pro205Thr) c.538C>A (p.Pro180Thr) c.445-7144C>A (n.445-7144C>A) | |
| 3 | g.4418123A= | CA1342154374 | SUMF1 | c.612T= (p.His204=) c.537T= (p.His179=) c.445-7145T= (n.445-7145T=) | |
| 3 | g.4418123A>C | CA351632789 | SUMF1 | c.612T>G (p.His204Gln) c.537T>G (p.His179Gln) c.445-7145T>G (n.445-7145T>G) | |
| 3 | g.4418123A>G | CA68802919 | SUMF1 | c.612T>C (p.His204=) c.537T>C (p.His179=) c.445-7145T>C (n.445-7145T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.4418123A>T | CA351632790 | SUMF1 | c.612T>A (p.His204Gln) c.537T>A (p.His179Gln) c.445-7145T>A (n.445-7145T>A) | |
| 3 | g.4418124T>A | CA351632791 | SUMF1 | c.611A>T (p.His204Leu) c.536A>T (p.His179Leu) c.445-7146A>T (n.445-7146A>T) | |
| 3 | g.4418124T>C | CA351632793 | SUMF1 | c.611A>G (p.His204Arg) c.536A>G (p.His179Arg) c.445-7146A>G (n.445-7146A>G) | |
| 3 | g.4418124T>G | CA351632792 | SUMF1 | c.611A>C (p.His204Pro) c.536A>C (p.His179Pro) c.445-7146A>C (n.445-7146A>C) | |
| 3 | g.4418125G>A | CA351632794 | SUMF1 | c.610C>T (p.His204Tyr) c.535C>T (p.His179Tyr) c.445-7147C>T (n.445-7147C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4418125G>C | CA351632796 | SUMF1 | c.610C>G (p.His204Asp) c.535C>G (p.His179Asp) c.445-7147C>G (n.445-7147C>G) | |
| 3 | g.4418125G= | CA1342154378 | SUMF1 | c.610C= (p.His204=) c.535C= (p.His179=) c.445-7147C= (n.445-7147C=) | |
| 3 | g.4418125G>T | CA351632795 | SUMF1 | c.610C>A (p.His204Asn) c.535C>A (p.His179Asn) c.445-7147C>A (n.445-7147C>A) | |
| 3 | g.4418126A>C | CA351632797 | SUMF1 | c.609T>G (p.Asp203Glu) c.534T>G (p.Asp178Glu) c.445-7148T>G (n.445-7148T>G) | |
| 3 | g.4418126A>G | CA432314239 | SUMF1 | c.609T>C (p.Asp203=) c.534T>C (p.Asp178=) c.445-7148T>C (n.445-7148T>C) | |
| 3 | g.4418126A>T | CA351632798 | SUMF1 | c.609T>A (p.Asp203Glu) c.534T>A (p.Asp178Glu) c.445-7148T>A (n.445-7148T>A) | |
| 3 | g.4418126_4418127del | CA2664206518 | SUMF1 | c.608_609del (p.Asp203AlafsTer10) c.533_534del (p.Asp178AlafsTer10) c.445-7149_445-7148del (n.445-7149_445-7148del) | gnomAD v4 |