Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71480884_71481971del | CA2832612272 | DYSF | c.90_236+1del c.93_239+1del n.251_397+1del | |
2 | g.71481883T>A | CA347216227 | DYSF | c.149T>A (p.Phe50Tyr) c.152T>A (p.Phe51Tyr) n.310T>A | |
2 | g.71481883T>C | CA347216228 | DYSF | c.149T>C (p.Phe50Ser) c.152T>C (p.Phe51Ser) n.310T>C | |
2 | g.71481883T>G | CA347216230 | DYSF | c.149T>G (p.Phe50Cys) c.152T>G (p.Phe51Cys) n.310T>G | |
2 | g.71481884T>A | CA347216232 | DYSF | c.150T>A (p.Phe50Leu) c.153T>A (p.Phe51Leu) n.311T>A | |
2 | g.71481884T>C | CA426699504 | DYSF | c.150T>C (p.Phe50=) c.153T>C (p.Phe51=) n.311T>C | |
2 | g.71481884T>G | CA347216234 | DYSF | c.150T>G (p.Phe50Leu) c.153T>G (p.Phe51Leu) n.311T>G | |
2 | g.71481885G>A | CA347216240 | DYSF | c.151G>A (p.Glu51Lys) c.154G>A (p.Glu52Lys) n.312G>A | gnomAD v4 |
2 | g.71481885G>C | CA347216237 | DYSF | c.151G>C (p.Glu51Gln) c.154G>C (p.Glu52Gln) n.312G>C | |
2 | g.71481885G>T | CA347216239 | DYSF | c.151G>T (p.Glu51Ter) c.154G>T (p.Glu52Ter) n.312G>T | |
2 | g.71481886A>C | CA347216241 | DYSF | c.152A>C (p.Glu51Ala) c.155A>C (p.Glu52Ala) n.313A>C | |
2 | g.71481886A>G | CA347216244 | DYSF | c.152A>G (p.Glu51Gly) c.155A>G (p.Glu52Gly) n.313A>G | |
2 | g.71481886A>T | CA347216242 | DYSF | c.152A>T (p.Glu51Val) c.155A>T (p.Glu52Val) n.313A>T | |
2 | g.71481887A= | CA1260062165 | DYSF | c.153A= (p.Glu51=) c.156A= (p.Glu52=) n.314A= | |
2 | g.71481887A>C | CA347216246 | DYSF | c.153A>C (p.Glu51Asp) c.156A>C (p.Glu52Asp) n.314A>C | |
2 | g.71481887A>G | CA426699505 | DYSF | c.153A>G (p.Glu51=) c.156A>G (p.Glu52=) n.314A>G | ClinVar dbSNP |
2 | g.71481887A>T | CA347216247 | DYSF | c.153A>T (p.Glu51Asp) c.156A>T (p.Glu52Asp) n.314A>T | |
2 | g.71481888T>A | CA347216250 | DYSF | c.154T>A (p.Trp52Arg) c.157T>A (p.Trp53Arg) n.315T>A | ClinVar dbSNP |
2 | g.71481888T>C | CA347216252 | DYSF | c.154T>C (p.Trp52Arg) c.157T>C (p.Trp53Arg) n.315T>C | |
2 | g.71481888T>G | CA347216254 | DYSF | c.154T>G (p.Trp52Gly) c.157T>G (p.Trp53Gly) n.315T>G | |
2 | g.71481888T= | CA1260062166 | DYSF | c.154T= (p.Trp52=) c.157T= (p.Trp53=) n.315T= | |
2 | g.71481889G>A | CA347216256 | DYSF | c.155G>A (p.Trp52Ter) c.158G>A (p.Trp53Ter) n.316G>A | |
2 | g.71481889G>C | CA347216258 | DYSF | c.155G>C (p.Trp52Ser) c.158G>C (p.Trp53Ser) n.316G>C | |
2 | g.71481889G>T | CA347216260 | DYSF | c.155G>T (p.Trp52Leu) c.158G>T (p.Trp53Leu) n.316G>T | |
2 | g.71481890G>A | CA10604511 | DYSF | c.156G>A (p.Trp52Ter) c.159G>A (p.Trp53Ter) n.317G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71481890G>C | CA347216264 | DYSF | c.156G>C (p.Trp52Cys) c.159G>C (p.Trp53Cys) n.317G>C | |
2 | g.71481890G= | CA1260062167 | DYSF | c.156G= (p.Trp52=) c.159G= (p.Trp53=) n.317G= | |
2 | g.71481890G>T | CA347216266 | DYSF | c.156G>T (p.Trp52Cys) c.159G>T (p.Trp53Cys) n.317G>T | |
2 | g.71481895_71481915del | CA2576999460 | DYSF | c.161_181del (p.Leu54_Asp60del) c.164_184del (p.Leu55_Asp61del) n.322_342del | |
2 | g.71481891G>A | CA347216273 | DYSF | c.157G>A (p.Asp53Asn) c.160G>A (p.Asp54Asn) n.318G>A | |
2 | g.71481891G>C | CA347216271 | DYSF | c.157G>C (p.Asp53His) c.160G>C (p.Asp54His) n.318G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71481891G= | CA1260062168 | DYSF | c.157G= (p.Asp53=) c.160G= (p.Asp54=) n.318G= | |
2 | g.71481891G>T | CA347216269 | DYSF | c.157G>T (p.Asp53Tyr) c.160G>T (p.Asp54Tyr) n.318G>T | |
2 | g.71481892A= | CA1260062169 | DYSF | c.158A= (p.Asp53=) c.161A= (p.Asp54=) n.319A= | |
2 | g.71481892A>C | CA347216275 | DYSF | c.158A>C (p.Asp53Ala) c.161A>C (p.Asp54Ala) n.319A>C | |
2 | g.71481892A>G | CA347216276 | DYSF | c.158A>G (p.Asp53Gly) c.161A>G (p.Asp54Gly) n.319A>G | |
2 | g.71481892A>T | CA49751050 | DYSF | c.158A>T (p.Asp53Val) c.161A>T (p.Asp54Val) n.319A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71481893C>A | CA347216277 | DYSF | c.159C>A (p.Asp53Glu) c.162C>A (p.Asp54Glu) n.320C>A | |
2 | g.71481893C= | CA1260062170 | DYSF | c.159C= (p.Asp53=) c.162C= (p.Asp54=) n.320C= | |
2 | g.71481893C>G | CA347216278 | DYSF | c.159C>G (p.Asp53Glu) c.162C>G (p.Asp54Glu) n.320C>G | |
2 | g.71481893C>T | CA1705246 | DYSF | c.159C>T (p.Asp53=) c.162C>T (p.Asp54=) n.320C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71481894C>A | CA347216279 | DYSF | c.160C>A (p.Leu54Ile) c.163C>A (p.Leu55Ile) n.321C>A | gnomAD v4 COSMIC |
2 | g.71481894C= | CA1260062171 | DYSF | c.160C= (p.Leu54=) c.163C= (p.Leu55=) n.321C= | |
2 | g.71481894C>G | CA347216280 | DYSF | c.160C>G (p.Leu54Val) c.163C>G (p.Leu55Val) n.321C>G | |
2 | g.71481894C>T | CA1705247 | DYSF | c.160C>T (p.Leu54Phe) c.163C>T (p.Leu55Phe) n.321C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481895T>A | CA347216281 | DYSF | c.161T>A (p.Leu54His) c.164T>A (p.Leu55His) n.322T>A | |
2 | g.71481895T>C | CA347216282 | DYSF | c.161T>C (p.Leu54Pro) c.164T>C (p.Leu55Pro) n.322T>C | |
2 | g.71481895T>G | CA347216283 | DYSF | c.161T>G (p.Leu54Arg) c.164T>G (p.Leu55Arg) n.322T>G | |
2 | g.71481896C>A | CA426699506 | DYSF | c.162C>A (p.Leu54=) c.165C>A (p.Leu55=) n.323C>A | |
2 | g.71481896C= | CA1260062172 | DYSF | c.162C= (p.Leu54=) c.165C= (p.Leu55=) n.323C= | |
2 | g.71481896C>G | CA426699507 | DYSF | c.162C>G (p.Leu54=) c.165C>G (p.Leu55=) n.323C>G | |
2 | g.71481896C>T | CA426699508 | DYSF | c.162C>T (p.Leu54=) c.165C>T (p.Leu55=) n.323C>T | |
2 | g.71481897A>C | CA347216286 | DYSF | c.163A>C (p.Lys55Gln) c.166A>C (p.Lys56Gln) n.324A>C | |
2 | g.71481897A>G | CA347216285 | DYSF | c.163A>G (p.Lys55Glu) c.166A>G (p.Lys56Glu) n.324A>G | |
2 | g.71481897A>T | CA347216284 | DYSF | c.163A>T (p.Lys55Ter) c.166A>T (p.Lys56Ter) n.324A>T | |
2 | g.71481898dup | CA279067 | DYSF | c.164dup (p.Ile57HisfsTer8) c.167dup (p.Ile58HisfsTer8) n.325dup | ClinVar dbSNP gnomAD v4 |
2 | g.71481898A>C | CA347216289 | DYSF | c.164A>C (p.Lys55Thr) c.167A>C (p.Lys56Thr) n.325A>C | |
2 | g.71481898A>G | CA347216287 | DYSF | c.164A>G (p.Lys55Arg) c.167A>G (p.Lys56Arg) n.325A>G | gnomAD v4 |
2 | g.71481898A>T | CA347216288 | DYSF | c.164A>T (p.Lys55Met) c.167A>T (p.Lys56Met) n.325A>T | |
2 | g.71481899G>A | CA426699509 | DYSF | c.165G>A (p.Lys55=) c.168G>A (p.Lys56=) n.326G>A | ClinVar dbSNP |
2 | g.71481899G>C | CA347216290 | DYSF | c.165G>C (p.Lys55Asn) c.168G>C (p.Lys56Asn) n.326G>C | |
2 | g.71481899G= | CA1260062173 | DYSF | c.165G= (p.Lys55=) c.168G= (p.Lys56=) n.326G= | |
2 | g.71481899G>T | CA347216291 | DYSF | c.165G>T (p.Lys55Asn) c.168G>T (p.Lys56Asn) n.326G>T | |
2 | g.71481900G>A | CA347216292 | DYSF | c.166G>A (p.Gly56Ser) c.169G>A (p.Gly57Ser) n.327G>A | dbSNP gnomAD v4 |
2 | g.71481900G>C | CA347216293 | DYSF | c.166G>C (p.Gly56Arg) c.169G>C (p.Gly57Arg) n.327G>C | |
2 | g.71481900G= | CA1260062174 | DYSF | c.166G= (p.Gly56=) c.169G= (p.Gly57=) n.327G= | |
2 | g.71481900G>T | CA347216294 | DYSF | c.166G>T (p.Gly56Cys) c.169G>T (p.Gly57Cys) n.327G>T | |
2 | g.71481901G>A | CA347216295 | DYSF | c.167G>A (p.Gly56Asp) c.170G>A (p.Gly57Asp) n.328G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71481901G>C | CA347216296 | DYSF | c.167G>C (p.Gly56Ala) c.170G>C (p.Gly57Ala) n.328G>C | |
2 | g.71481901G>T | CA347216297 | DYSF | c.167G>T (p.Gly56Val) c.170G>T (p.Gly57Val) n.328G>T | gnomAD v4 |
2 | g.71481902C>A | CA426699510 | DYSF | c.168C>A (p.Gly56=) c.171C>A (p.Gly57=) n.329C>A | |
2 | g.71481902C>G | CA426699511 | DYSF | c.168C>G (p.Gly56=) c.171C>G (p.Gly57=) n.329C>G | |
2 | g.71481902C>T | CA426699512 | DYSF | c.168C>T (p.Gly56=) c.171C>T (p.Gly57=) n.329C>T | COSMIC COSMIC |
2 | g.71481903A= | CA1260062175 | DYSF | c.169A= (p.Ile57=) c.172A= (p.Ile58=) n.330A= | |
2 | g.71481903A>C | CA347216300 | DYSF | c.169A>C (p.Ile57Leu) c.172A>C (p.Ile58Leu) n.330A>C | |
2 | g.71481903A>G | CA347216302 | DYSF | c.169A>G (p.Ile57Val) c.172A>G (p.Ile58Val) n.330A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481903A>T | CA347216303 | DYSF | c.169A>T (p.Ile57Phe) c.172A>T (p.Ile58Phe) n.330A>T | gnomAD v4 |
2 | g.71481904T>A | CA347216310 | DYSF | c.170T>A (p.Ile57Asn) c.173T>A (p.Ile58Asn) n.331T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481904T>C | CA347216307 | DYSF | c.170T>C (p.Ile57Thr) c.173T>C (p.Ile58Thr) n.331T>C | gnomAD v4 |
2 | g.71481904T>G | CA347216308 | DYSF | c.170T>G (p.Ile57Ser) c.173T>G (p.Ile58Ser) n.331T>G | |
2 | g.71481904T= | CA1260062176 | DYSF | c.170T= (p.Ile57=) c.173T= (p.Ile58=) n.331T= | |
2 | g.71481904_71481905delinsTC | CA1260062177 | DYSF | c.170_171delinsTC (p.Ile57=) c.173_174delinsTC (p.Ile58=) n.331_332delinsTC | |
2 | g.71481905C>A | CA426699513 | DYSF | c.171C>A (p.Ile57=) c.174C>A (p.Ile58=) n.332C>A | ClinVar dbSNP gnomAD v4 |
2 | g.71481905C= | CA1260062178 | DYSF | c.171C= (p.Ile57=) c.174C= (p.Ile58=) n.332C= | |
2 | g.71481905C>G | CA347216313 | DYSF | c.171C>G (p.Ile57Met) c.174C>G (p.Ile58Met) n.332C>G | dbSNP |
2 | g.71481905C>T | CA426699514 | DYSF | c.171C>T (p.Ile57=) c.174C>T (p.Ile58=) n.332C>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.71481909del | CA426699515 | DYSF | c.175del (p.Leu59TrpfsTer?) c.178del (p.Leu60TrpfsTer?) n.336del | ClinVar dbSNP COSMIC COSMIC |
2 | g.71481906C>A | CA347216317 | DYSF | c.172C>A (p.Pro58Thr) c.175C>A (p.Pro59Thr) n.333C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481906C= | CA1260062179 | DYSF | c.172C= (p.Pro58=) c.175C= (p.Pro59=) n.333C= | |
2 | g.71481906C>G | CA347216318 | DYSF | c.172C>G (p.Pro58Ala) c.175C>G (p.Pro59Ala) n.333C>G | |
2 | g.71481906C>T | CA347216321 | DYSF | c.172C>T (p.Pro58Ser) c.175C>T (p.Pro59Ser) n.333C>T | dbSNP gnomAD v4 |
2 | g.71481906_71481911dup | CA1705248 | DYSF | c.172_177dup (p.Leu59_Asp60insProLeu) c.175_180dup (p.Leu60_Asp61insProLeu) n.333_338dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481907C>A | CA347216322 | DYSF | c.173C>A (p.Pro58His) c.176C>A (p.Pro59His) n.334C>A | |
2 | g.71481907C= | CA1260062180 | DYSF | c.173C= (p.Pro58=) c.176C= (p.Pro59=) n.334C= | |
2 | g.71481907C>G | CA347216323 | DYSF | c.173C>G (p.Pro58Arg) c.176C>G (p.Pro59Arg) n.334C>G | ClinVar |
2 | g.71481907C>T | CA1705249 | DYSF | c.173C>T (p.Pro58Leu) c.176C>T (p.Pro59Leu) n.334C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71481908C>A | CA426699517 | DYSF | c.174C>A (p.Pro58=) c.177C>A (p.Pro59=) n.335C>A | |
2 | g.71481908C= | CA1260062181 | DYSF | c.174C= (p.Pro58=) c.177C= (p.Pro59=) n.335C= | |
2 | g.71481908C>G | CA426699518 | DYSF | c.174C>G (p.Pro58=) c.177C>G (p.Pro59=) n.335C>G | |
2 | g.71481908C>T | CA426699516 | DYSF | c.174C>T (p.Pro58=) c.177C>T (p.Pro59=) n.335C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71481909C>A | CA347216325 | DYSF | c.175C>A (p.Leu59Met) c.178C>A (p.Leu60Met) n.336C>A | |
2 | g.71481909C>G | CA347216327 | DYSF | c.175C>G (p.Leu59Val) c.178C>G (p.Leu60Val) n.336C>G | gnomAD v4 |
2 | g.71481909C>T | CA426699519 | DYSF | c.175C>T (p.Leu59=) c.178C>T (p.Leu60=) n.336C>T | |
2 | g.71481910del | CA2499216199 | DYSF | c.176del (p.Leu59ArgfsTer?) c.179del (p.Leu60ArgfsTer?) n.337del | ClinVar dbSNP |
2 | g.71481910T>A | CA347216330 | DYSF | c.176T>A (p.Leu59Gln) c.179T>A (p.Leu60Gln) n.337T>A | |
2 | g.71481910T>C | CA347216331 | DYSF | c.176T>C (p.Leu59Pro) c.179T>C (p.Leu60Pro) n.337T>C | |
2 | g.71481910T>G | CA347216332 | DYSF | c.176T>G (p.Leu59Arg) c.179T>G (p.Leu60Arg) n.337T>G | |
2 | g.71481911G>A | CA426699520 | DYSF | c.177G>A (p.Leu59=) c.180G>A (p.Leu60=) n.338G>A | dbSNP |
2 | g.71481911G>C | CA426699521 | DYSF | c.177G>C (p.Leu59=) c.180G>C (p.Leu60=) n.338G>C | |
2 | g.71481911G= | CA1260062182 | DYSF | c.177G= (p.Leu59=) c.180G= (p.Leu60=) n.338G= | |
2 | g.71481911G>T | CA426699522 | DYSF | c.177G>T (p.Leu59=) c.180G>T (p.Leu60=) n.338G>T | |
2 | g.71481912del | CA2580067887 | DYSF | c.178del (p.Asp60ThrfsTer?) c.181del (p.Asp61ThrfsTer?) n.339del | ClinVar |
2 | g.71481912G>A | CA347216337 | DYSF | c.178G>A (p.Asp60Asn) c.181G>A (p.Asp61Asn) n.339G>A | gnomAD v4 |
2 | g.71481912G>C | CA347216339 | DYSF | c.178G>C (p.Asp60His) c.181G>C (p.Asp61His) n.339G>C | |
2 | g.71481912G>T | CA347216335 | DYSF | c.178G>T (p.Asp60Tyr) c.181G>T (p.Asp61Tyr) n.339G>T | |
2 | g.71481913A>C | CA347216342 | DYSF | c.179A>C (p.Asp60Ala) c.182A>C (p.Asp61Ala) n.340A>C | |
2 | g.71481913A>G | CA347216346 | DYSF | c.179A>G (p.Asp60Gly) c.182A>G (p.Asp61Gly) n.340A>G | |
2 | g.71481913A>T | CA347216343 | DYSF | c.179A>T (p.Asp60Val) c.182A>T (p.Asp61Val) n.340A>T | |
2 | g.71481914C>A | CA347216348 | DYSF | c.180C>A (p.Asp60Glu) c.183C>A (p.Asp61Glu) n.341C>A | |
2 | g.71481914C= | CA1260062183 | DYSF | c.180C= (p.Asp60=) c.183C= (p.Asp61=) n.341C= | |
2 | g.71481914C>G | CA347216350 | DYSF | c.180C>G (p.Asp60Glu) c.183C>G (p.Asp61Glu) n.341C>G | |
2 | g.71481914C>T | CA1705250 | DYSF | c.180C>T (p.Asp60=) c.183C>T (p.Asp61=) n.341C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71481915C>A | CA347216354 | DYSF | c.181C>A (p.Gln61Lys) c.184C>A (p.Gln62Lys) n.342C>A | gnomAD v4 |
2 | g.71481915C= | CA1260062184 | DYSF | c.181C= (p.Gln61=) c.184C= (p.Gln62=) n.342C= | |
2 | g.71481915C>G | CA347216356 | DYSF | c.181C>G (p.Gln61Glu) c.184C>G (p.Gln62Glu) n.342C>G | dbSNP gnomAD v2 |
2 | g.71481915C>T | CA347216358 | DYSF | c.181C>T (p.Gln61Ter) c.184C>T (p.Gln62Ter) n.342C>T | |
2 | g.71481916A= | CA1260062185 | DYSF | c.182A= (p.Gln61=) c.185A= (p.Gln62=) n.343A= | |
2 | g.71481916A>C | CA347216361 | DYSF | c.182A>C (p.Gln61Pro) c.185A>C (p.Gln62Pro) n.343A>C | |
2 | g.71481916A>G | CA347216362 | DYSF | c.182A>G (p.Gln61Arg) c.185A>G (p.Gln62Arg) n.343A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481916A>T | CA347216364 | DYSF | c.182A>T (p.Gln61Leu) c.185A>T (p.Gln62Leu) n.343A>T | |
2 | g.71481917G>A | CA426699523 | DYSF | c.183G>A (p.Gln61=) c.186G>A (p.Gln62=) n.344G>A | |
2 | g.71481917G>C | CA347216367 | DYSF | c.183G>C (p.Gln61His) c.186G>C (p.Gln62His) n.344G>C | gnomAD v4 |
2 | g.71481917G>T | CA347216369 | DYSF | c.183G>T (p.Gln61His) c.186G>T (p.Gln62His) n.344G>T | |
2 | g.71481918G>A | CA347216375 | DYSF | c.184G>A (p.Gly62Ser) c.187G>A (p.Gly63Ser) n.345G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481918G>C | CA347216373 | DYSF | c.184G>C (p.Gly62Arg) c.187G>C (p.Gly63Arg) n.345G>C | |
2 | g.71481918G= | CA1260062186 | DYSF | c.184G= (p.Gly62=) c.187G= (p.Gly63=) n.345G= | |
2 | g.71481918G>T | CA347216371 | DYSF | c.184G>T (p.Gly62Cys) c.187G>T (p.Gly63Cys) n.345G>T | |
2 | g.71481919G>A | CA347216377 | DYSF | c.185G>A (p.Gly62Asp) c.188G>A (p.Gly63Asp) n.346G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481919G>C | CA347216379 | DYSF | c.185G>C (p.Gly62Ala) c.188G>C (p.Gly63Ala) n.346G>C | |
2 | g.71481919G= | CA1260062187 | DYSF | c.185G= (p.Gly62=) c.188G= (p.Gly63=) n.346G= | |
2 | g.71481919G>T | CA347216381 | DYSF | c.185G>T (p.Gly62Val) c.188G>T (p.Gly63Val) n.346G>T | dbSNP gnomAD v4 |
2 | g.71481920C>A | CA426699524 | DYSF | c.186C>A (p.Gly62=) c.189C>A (p.Gly63=) n.347C>A | gnomAD v4 |
2 | g.71481920C>G | CA426699525 | DYSF | c.186C>G (p.Gly62=) c.189C>G (p.Gly63=) n.347C>G | |
2 | g.71481920C>T | CA426699526 | DYSF | c.186C>T (p.Gly62=) c.189C>T (p.Gly63=) n.347C>T | gnomAD v4 |
2 | g.71481921T>A | CA347216383 | DYSF | c.187T>A (p.Ser63Thr) c.190T>A (p.Ser64Thr) n.348T>A | |
2 | g.71481921T>C | CA347216385 | DYSF | c.187T>C (p.Ser63Pro) c.190T>C (p.Ser64Pro) n.348T>C | |
2 | g.71481921T>G | CA347216386 | DYSF | c.187T>G (p.Ser63Ala) c.190T>G (p.Ser64Ala) n.348T>G | |
2 | g.71481922C>A | CA347216389 | DYSF | c.188C>A (p.Ser63Tyr) c.191C>A (p.Ser64Tyr) n.349C>A | |
2 | g.71481922C= | CA1260062188 | DYSF | c.188C= (p.Ser63=) c.191C= (p.Ser64=) n.349C= | |
2 | g.71481922C>G | CA347216390 | DYSF | c.188C>G (p.Ser63Cys) c.191C>G (p.Ser64Cys) n.349C>G | |
2 | g.71481922C>T | CA347216391 | DYSF | c.188C>T (p.Ser63Phe) c.191C>T (p.Ser64Phe) n.349C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71481923T>A | CA426699527 | DYSF | c.189T>A (p.Ser63=) c.192T>A (p.Ser64=) n.350T>A | |
2 | g.71481923T>C | CA426699528 | DYSF | c.189T>C (p.Ser63=) c.192T>C (p.Ser64=) n.350T>C | gnomAD v4 |
2 | g.71481923T>G | CA426699529 | DYSF | c.189T>G (p.Ser63=) c.192T>G (p.Ser64=) n.350T>G | |
2 | g.71481924G>A | CA347216392 | DYSF | c.190G>A (p.Glu64Lys) c.193G>A (p.Glu65Lys) n.351G>A | |
2 | g.71481924G>C | CA347216394 | DYSF | c.190G>C (p.Glu64Gln) c.193G>C (p.Glu65Gln) n.351G>C | |
2 | g.71481924G= | CA1260062189 | DYSF | c.190G= (p.Glu64=) c.193G= (p.Glu65=) n.351G= | |
2 | g.71481924G>T | CA347216396 | DYSF | c.190G>T (p.Glu64Ter) c.193G>T (p.Glu65Ter) n.351G>T | ClinVar dbSNP |
2 | g.71481925A= | CA1260062190 | DYSF | c.191A= (p.Glu64=) c.194A= (p.Glu65=) n.352A= | |
2 | g.71481925A>C | CA347216402 | DYSF | c.191A>C (p.Glu64Ala) c.194A>C (p.Glu65Ala) n.352A>C | |
2 | g.71481925A>G | CA347216400 | DYSF | c.191A>G (p.Glu64Gly) c.194A>G (p.Glu65Gly) n.352A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71481925A>T | CA347216398 | DYSF | c.191A>T (p.Glu64Val) c.194A>T (p.Glu65Val) n.352A>T | gnomAD v4 |
2 | g.71481926G>A | CA426699530 | DYSF | c.192G>A (p.Glu64=) c.195G>A (p.Glu65=) n.353G>A | ClinVar gnomAD v4 |
2 | g.71481926G>C | CA347216404 | DYSF | c.192G>C (p.Glu64Asp) c.195G>C (p.Glu65Asp) n.353G>C | |
2 | g.71481926G>T | CA347216406 | DYSF | c.192G>T (p.Glu64Asp) c.195G>T (p.Glu65Asp) n.353G>T | |
2 | g.71481927C>A | CA347216408 | DYSF | c.193C>A (p.Leu65Ile) c.196C>A (p.Leu66Ile) n.354C>A | |
2 | g.71481927C= | CA1260062191 | DYSF | c.193C= (p.Leu65=) c.196C= (p.Leu66=) n.354C= | |
2 | g.71481927C>G | CA1705251 | DYSF | c.193C>G (p.Leu65Val) c.196C>G (p.Leu66Val) n.354C>G | dbSNP ExAC gnomAD v4 |
2 | g.71481927C>T | CA347216412 | DYSF | c.193C>T (p.Leu65Phe) c.196C>T (p.Leu66Phe) n.354C>T | |
2 | g.71481928T>A | CA347216419 | DYSF | c.194T>A (p.Leu65His) c.197T>A (p.Leu66His) n.355T>A | |
2 | g.71481928T>C | CA347216417 | DYSF | c.194T>C (p.Leu65Pro) c.197T>C (p.Leu66Pro) n.355T>C | |
2 | g.71481928T>G | CA347216415 | DYSF | c.194T>G (p.Leu65Arg) c.197T>G (p.Leu66Arg) n.355T>G | |
2 | g.71481929T>A | CA426699532 | DYSF | c.195T>A (p.Leu65=) c.198T>A (p.Leu66=) n.356T>A | |
2 | g.71481929T>C | CA426699533 | DYSF | c.195T>C (p.Leu65=) c.198T>C (p.Leu66=) n.356T>C | |
2 | g.71481929T>G | CA426699531 | DYSF | c.195T>G (p.Leu65=) c.198T>G (p.Leu66=) n.356T>G | |
2 | g.71481930C>A | CA347216422 | DYSF | c.196C>A (p.His66Asn) c.199C>A (p.His67Asn) n.357C>A | |
2 | g.71481930C>G | CA347216424 | DYSF | c.196C>G (p.His66Asp) c.199C>G (p.His67Asp) n.357C>G | |
2 | g.71481930C>T | CA347216426 | DYSF | c.196C>T (p.His66Tyr) c.199C>T (p.His67Tyr) n.357C>T | |
2 | g.71481931A>C | CA347216429 | DYSF | c.197A>C (p.His66Pro) c.200A>C (p.His67Pro) n.358A>C | gnomAD v4 |
2 | g.71481931A>G | CA347216430 | DYSF | c.197A>G (p.His66Arg) c.200A>G (p.His67Arg) n.358A>G | gnomAD v4 |
2 | g.71481931A>T | CA347216432 | DYSF | c.197A>T (p.His66Leu) c.200A>T (p.His67Leu) n.358A>T | |
2 | g.71481932T>A | CA347216435 | DYSF | c.198T>A (p.His66Gln) c.201T>A (p.His67Gln) n.359T>A | |
2 | g.71481932T>C | CA1705252 | DYSF | c.198T>C (p.His66=) c.201T>C (p.His67=) n.359T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481932T>G | CA347216437 | DYSF | c.198T>G (p.His66Gln) c.201T>G (p.His67Gln) n.359T>G | |
2 | g.71481932T= | CA1260062192 | DYSF | c.198T= (p.His66=) c.201T= (p.His67=) n.359T= | |
2 | g.71481933G>A | CA347216441 | DYSF | c.199G>A (p.Val67Met) c.202G>A (p.Val68Met) n.360G>A | |
2 | g.71481933G>C | CA347216443 | DYSF | c.199G>C (p.Val67Leu) c.202G>C (p.Val68Leu) n.360G>C | |
2 | g.71481933G= | CA1260062193 | DYSF | c.199G= (p.Val67=) c.202G= (p.Val68=) n.360G= | |
2 | g.71481933G>T | CA49751068 | DYSF | c.199G>T (p.Val67Leu) c.202G>T (p.Val68Leu) n.360G>T | dbSNP |
2 | g.71481934T>A | CA347216446 | DYSF | c.200T>A (p.Val67Glu) c.203T>A (p.Val68Glu) n.361T>A | |
2 | g.71481934T>C | CA347216448 | DYSF | c.200T>C (p.Val67Ala) c.203T>C (p.Val68Ala) n.361T>C | |
2 | g.71481934T>G | CA347216450 | DYSF | c.200T>G (p.Val67Gly) c.203T>G (p.Val68Gly) n.361T>G | |
2 | g.71481934_71481935delinsAT | CA253907 | DYSF | c.200_201delinsAT (p.Val67Asp) c.203_204delinsAT (p.Val68Asp) n.361_362delinsAT | ClinVar dbSNP |
2 | g.71481934_71481935delinsTG | CA1260062194 | DYSF | c.200_201delinsTG (p.Val67=) c.203_204delinsTG (p.Val68=) n.361_362delinsTG | |
2 | g.71481935G>A | CA426699534 | DYSF | c.201G>A (p.Val67=) c.204G>A (p.Val68=) n.362G>A | gnomAD v4 |
2 | g.71481935G>C | CA426699535 | DYSF | c.201G>C (p.Val67=) c.204G>C (p.Val68=) n.362G>C | |
2 | g.71481935G>T | CA426699536 | DYSF | c.201G>T (p.Val67=) c.204G>T (p.Val68=) n.362G>T | |
2 | g.71481936G>A | CA1705254 | DYSF | c.202G>A (p.Val68Met) c.205G>A (p.Val69Met) n.363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481936G>C | CA1705253 | DYSF | c.202G>C (p.Val68Leu) c.205G>C (p.Val69Leu) n.363G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481936G= | CA1260062195 | DYSF | c.202G= (p.Val68=) c.205G= (p.Val69=) n.363G= | |
2 | g.71481936G>T | CA347216455 | DYSF | c.202G>T (p.Val68Leu) c.205G>T (p.Val69Leu) n.363G>T | |
2 | g.71481937T>A | CA347216458 | DYSF | c.203T>A (p.Val68Glu) c.206T>A (p.Val69Glu) n.364T>A | |
2 | g.71481937T>C | CA347216461 | DYSF | c.203T>C (p.Val68Ala) c.206T>C (p.Val69Ala) n.364T>C | |
2 | g.71481937T>G | CA347216460 | DYSF | c.203T>G (p.Val68Gly) c.206T>G (p.Val69Gly) n.364T>G | |
2 | g.71481938G>A | CA1705255 | DYSF | c.204G>A (p.Val68=) c.207G>A (p.Val69=) n.365G>A | dbSNP ExAC |
2 | g.71481938G>C | CA426699537 | DYSF | c.204G>C (p.Val68=) c.207G>C (p.Val69=) n.365G>C | |
2 | g.71481938G= | CA1260062196 | DYSF | c.204G= (p.Val68=) c.207G= (p.Val69=) n.365G= | |
2 | g.71481938G>T | CA426699538 | DYSF | c.204G>T (p.Val68=) c.207G>T (p.Val69=) n.365G>T | |
2 | g.71481939G>A | CA1705256 | DYSF | c.205G>A (p.Val69Ile) c.208G>A (p.Val70Ile) n.366G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481939G>C | CA347216464 | DYSF | c.205G>C (p.Val69Leu) c.208G>C (p.Val70Leu) n.366G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71481939G= | CA1260062197 | DYSF | c.205G= (p.Val69=) c.208G= (p.Val70=) n.366G= | |
2 | g.71481939G>T | CA347216467 | DYSF | c.205G>T (p.Val69Phe) c.208G>T (p.Val70Phe) n.366G>T | |
2 | g.71481940T>A | CA347216470 | DYSF | c.206T>A (p.Val69Asp) c.209T>A (p.Val70Asp) n.367T>A | |
2 | g.71481940T>C | CA347216473 | DYSF | c.206T>C (p.Val69Ala) c.209T>C (p.Val70Ala) n.367T>C | |
2 | g.71481940T>G | CA10604804 | DYSF | c.206T>G (p.Val69Gly) c.209T>G (p.Val70Gly) n.367T>G | ClinVar dbSNP |
2 | g.71481940T= | CA1260062198 | DYSF | c.206T= (p.Val69=) c.209T= (p.Val70=) n.367T= | |
2 | g.71481941C>A | CA426699539 | DYSF | c.207C>A (p.Val69=) c.210C>A (p.Val70=) n.368C>A | |
2 | g.71481941C>G | CA426699540 | DYSF | c.207C>G (p.Val69=) c.210C>G (p.Val70=) n.368C>G | |
2 | g.71481941C>T | CA426699541 | DYSF | c.207C>T (p.Val69=) c.210C>T (p.Val70=) n.368C>T | |
2 | g.71481942A= | CA1260062199 | DYSF | c.208A= (p.Lys70=) c.211A= (p.Lys71=) n.369A= | |
2 | g.71481942A>C | CA347216475 | DYSF | c.208A>C (p.Lys70Gln) c.211A>C (p.Lys71Gln) n.369A>C | |
2 | g.71481942A>G | CA49751124 | DYSF | c.208A>G (p.Lys70Glu) c.211A>G (p.Lys71Glu) n.369A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481942A>T | CA347216476 | DYSF | c.208A>T (p.Lys70Ter) c.211A>T (p.Lys71Ter) n.369A>T | |
2 | g.71481943A>C | CA347216478 | DYSF | c.209A>C (p.Lys70Thr) c.212A>C (p.Lys71Thr) n.370A>C | |
2 | g.71481943A>G | CA347216480 | DYSF | c.209A>G (p.Lys70Arg) c.212A>G (p.Lys71Arg) n.370A>G | |
2 | g.71481943A>T | CA347216481 | DYSF | c.209A>T (p.Lys70Ile) c.212A>T (p.Lys71Ile) n.370A>T | |
2 | g.71481944A>C | CA347216484 | DYSF | c.210A>C (p.Lys70Asn) c.213A>C (p.Lys71Asn) n.371A>C | |
2 | g.71481944A>G | CA426699542 | DYSF | c.210A>G (p.Lys70=) c.213A>G (p.Lys71=) n.371A>G | |
2 | g.71481944A>T | CA347216485 | DYSF | c.210A>T (p.Lys70Asn) c.213A>T (p.Lys71Asn) n.371A>T | |
2 | g.71481945G>A | CA347216487 | DYSF | c.211G>A (p.Asp71Asn) c.214G>A (p.Asp72Asn) n.372G>A | |
2 | g.71481945G>C | CA347216489 | DYSF | c.211G>C (p.Asp71His) c.214G>C (p.Asp72His) n.372G>C | |
2 | g.71481945G>T | CA347216491 | DYSF | c.211G>T (p.Asp71Tyr) c.214G>T (p.Asp72Tyr) n.372G>T | |
2 | g.71481946A>C | CA347216498 | DYSF | c.212A>C (p.Asp71Ala) c.215A>C (p.Asp72Ala) n.373A>C | |
2 | g.71481946A>G | CA347216494 | DYSF | c.212A>G (p.Asp71Gly) c.215A>G (p.Asp72Gly) n.373A>G | |
2 | g.71481946A>T | CA347216496 | DYSF | c.212A>T (p.Asp71Val) c.215A>T (p.Asp72Val) n.373A>T | |
2 | g.71481947C>A | CA347216500 | DYSF | c.213C>A (p.Asp71Glu) c.216C>A (p.Asp72Glu) n.374C>A | |
2 | g.71481947C= | CA1260062200 | DYSF | c.213C= (p.Asp71=) c.216C= (p.Asp72=) n.374C= | |
2 | g.71481947C>G | CA347216501 | DYSF | c.213C>G (p.Asp71Glu) c.216C>G (p.Asp72Glu) n.374C>G | |
2 | g.71481947C>T | CA426699543 | DYSF | c.213C>T (p.Asp71=) c.216C>T (p.Asp72=) n.374C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71481948C>A | CA347216503 | DYSF | c.214C>A (p.His72Asn) c.217C>A (p.His73Asn) n.375C>A | |
2 | g.71481948C>G | CA347216504 | DYSF | c.214C>G (p.His72Asp) c.217C>G (p.His73Asp) n.375C>G | |
2 | g.71481948C>T | CA347216506 | DYSF | c.214C>T (p.His72Tyr) c.217C>T (p.His73Tyr) n.375C>T | |
2 | g.71481949A= | CA1260062201 | DYSF | c.215A= (p.His72=) c.218A= (p.His73=) n.376A= | |
2 | g.71481949A>C | CA347216508 | DYSF | c.215A>C (p.His72Pro) c.218A>C (p.His73Pro) n.376A>C | |
2 | g.71481949A>G | CA1705257 | DYSF | c.215A>G (p.His72Arg) c.218A>G (p.His73Arg) n.376A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481949A>T | CA347216513 | DYSF | c.215A>T (p.His72Leu) c.218A>T (p.His73Leu) n.376A>T | |
2 | g.71481950T>A | CA347216514 | DYSF | c.216T>A (p.His72Gln) c.219T>A (p.His73Gln) n.377T>A | |
2 | g.71481950T>C | CA426699544 | DYSF | c.216T>C (p.His72=) c.219T>C (p.His73=) n.377T>C | |
2 | g.71481950T>G | CA347216515 | DYSF | c.216T>G (p.His72Gln) c.219T>G (p.His73Gln) n.377T>G | |
2 | g.71481950_71481951delinsCC | CA2580067890 | DYSF | c.216_217delinsCC (p.Glu73Gln) c.219_220delinsCC (p.Glu74Gln) n.377_378delinsCC | ClinVar |
2 | g.71481951G>A | CA1705258 | DYSF | c.217G>A (p.Glu73Lys) c.220G>A (p.Glu74Lys) n.378G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71481951G>C | CA347216519 | DYSF | c.217G>C (p.Glu73Gln) c.220G>C (p.Glu74Gln) n.378G>C | |
2 | g.71481951G= | CA1260062202 | DYSF | c.217G= (p.Glu73=) c.220G= (p.Glu74=) n.378G= | |
2 | g.71481951G>T | CA347216517 | DYSF | c.217G>T (p.Glu73Ter) c.220G>T (p.Glu74Ter) n.378G>T | |
2 | g.71481952A>C | CA347216521 | DYSF | c.218A>C (p.Glu73Ala) c.221A>C (p.Glu74Ala) n.379A>C | |
2 | g.71481952A>G | CA347216523 | DYSF | c.218A>G (p.Glu73Gly) c.221A>G (p.Glu74Gly) n.379A>G | |
2 | g.71481952A>T | CA347216527 | DYSF | c.218A>T (p.Glu73Val) c.221A>T (p.Glu74Val) n.379A>T | |
2 | g.71481953G>A | CA426699545 | DYSF | c.219G>A (p.Glu73=) c.222G>A (p.Glu74=) n.380G>A | |
2 | g.71481953G>C | CA347216530 | DYSF | c.219G>C (p.Glu73Asp) c.222G>C (p.Glu74Asp) n.380G>C | |
2 | g.71481953G>T | CA347216531 | DYSF | c.219G>T (p.Glu73Asp) c.222G>T (p.Glu74Asp) n.380G>T | |
2 | g.71481954A>C | CA347216535 | DYSF | c.220A>C (p.Thr74Pro) c.223A>C (p.Thr75Pro) n.381A>C | |
2 | g.71481954A>G | CA347216533 | DYSF | c.220A>G (p.Thr74Ala) c.223A>G (p.Thr75Ala) n.381A>G | |
2 | g.71481954A>T | CA347216534 | DYSF | c.220A>T (p.Thr74Ser) c.223A>T (p.Thr75Ser) n.381A>T | |
2 | g.71481955C>A | CA347216536 | DYSF | c.221C>A (p.Thr74Lys) c.224C>A (p.Thr75Lys) n.382C>A | |
2 | g.71481955C= | CA1260062203 | DYSF | c.221C= (p.Thr74=) c.224C= (p.Thr75=) n.382C= | |
2 | g.71481955C>G | CA347216537 | DYSF | c.221C>G (p.Thr74Arg) c.224C>G (p.Thr75Arg) n.382C>G | |
2 | g.71481955C>T | CA1705259 | DYSF | c.221C>T (p.Thr74Met) c.224C>T (p.Thr75Met) n.382C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71481956G>A | CA1705260 | DYSF | c.222G>A (p.Thr74=) c.225G>A (p.Thr75=) n.383G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71481956G>C | CA426699546 | DYSF | c.222G>C (p.Thr74=) c.225G>C (p.Thr75=) n.383G>C | |
2 | g.71481956G= | CA1260062204 | DYSF | c.222G= (p.Thr74=) c.225G= (p.Thr75=) n.383G= | |
2 | g.71481956G>T | CA1705261 | DYSF | c.222G>T (p.Thr74=) c.225G>T (p.Thr75=) n.383G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481957A>C | CA347216544 | DYSF | c.223A>C (p.Met75Leu) c.226A>C (p.Met76Leu) n.384A>C | |
2 | g.71481957A>G | CA347216549 | DYSF | c.223A>G (p.Met75Val) c.226A>G (p.Met76Val) n.384A>G | |
2 | g.71481957A>T | CA347216548 | DYSF | c.223A>T (p.Met75Leu) c.226A>T (p.Met76Leu) n.384A>T | |
2 | g.71481958T>A | CA347216550 | DYSF | c.224T>A (p.Met75Lys) c.227T>A (p.Met76Lys) n.385T>A | |
2 | g.71481958T>C | CA347216552 | DYSF | c.224T>C (p.Met75Thr) c.227T>C (p.Met76Thr) n.385T>C | |
2 | g.71481958T>G | CA347216553 | DYSF | c.224T>G (p.Met75Arg) c.227T>G (p.Met76Arg) n.385T>G | |
2 | g.71481959G>A | CA49751190 | DYSF | c.225G>A (p.Met75Ile) c.228G>A (p.Met76Ile) n.386G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481959G>C | CA347216554 | DYSF | c.225G>C (p.Met75Ile) c.228G>C (p.Met76Ile) n.386G>C | |
2 | g.71481959G= | CA1260062205 | DYSF | c.225G= (p.Met75=) c.228G= (p.Met76=) n.386G= | |
2 | g.71481959G>T | CA347216555 | DYSF | c.225G>T (p.Met75Ile) c.228G>T (p.Met76Ile) n.386G>T | |
2 | g.71481960G>A | CA347216556 | DYSF | c.226G>A (p.Gly76Arg) c.229G>A (p.Gly77Arg) n.387G>A | ClinVar |
2 | g.71481960G>C | CA347216557 | DYSF | c.226G>C (p.Gly76Arg) c.229G>C (p.Gly77Arg) n.387G>C | |
2 | g.71481960G>T | CA347216558 | DYSF | c.226G>T (p.Gly76Trp) c.229G>T (p.Gly77Trp) n.387G>T | |
2 | g.71481961G>A | CA347216559 | DYSF | c.227G>A (p.Gly76Glu) c.230G>A (p.Gly77Glu) n.388G>A | |
2 | g.71481961G>C | CA347216560 | DYSF | c.227G>C (p.Gly76Ala) c.230G>C (p.Gly77Ala) n.388G>C | gnomAD v4 |
2 | g.71481961G>T | CA347216561 | DYSF | c.227G>T (p.Gly76Val) c.230G>T (p.Gly77Val) n.388G>T | gnomAD v4 |
2 | g.71481962G>A | CA426699550 | DYSF | c.228G>A (p.Gly76=) c.231G>A (p.Gly77=) n.389G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71481962G>C | CA426699551 | DYSF | c.228G>C (p.Gly76=) c.231G>C (p.Gly77=) n.389G>C | |
2 | g.71481962G= | CA1260062206 | DYSF | c.228G= (p.Gly76=) c.231G= (p.Gly77=) n.389G= | |
2 | g.71481962G>T | CA426699549 | DYSF | c.228G>T (p.Gly76=) c.231G>T (p.Gly77=) n.389G>T | |
2 | g.71481963A= | CA1260062207 | DYSF | c.229A= (p.Arg77=) c.232A= (p.Arg78=) n.390A= | |
2 | g.71481963A>C | CA426699552 | DYSF | c.229A>C (p.Arg77=) c.232A>C (p.Arg78=) n.390A>C | |
2 | g.71481963A>G | CA347216563 | DYSF | c.229A>G (p.Arg77Gly) c.232A>G (p.Arg78Gly) n.390A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481963A>T | CA347216562 | DYSF | c.229A>T (p.Arg77Trp) c.232A>T (p.Arg78Trp) n.390A>T | |
2 | g.71481964G>A | CA1705262 | DYSF | c.230G>A (p.Arg77Lys) c.233G>A (p.Arg78Lys) n.391G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71481964G>C | CA347216565 | DYSF | c.230G>C (p.Arg77Thr) c.233G>C (p.Arg78Thr) n.391G>C | |
2 | g.71481964G= | CA1260062208 | DYSF | c.230G= (p.Arg77=) c.233G= (p.Arg78=) n.391G= | |
2 | g.71481964G>T | CA347216564 | DYSF | c.230G>T (p.Arg77Met) c.233G>T (p.Arg78Met) n.391G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481965G>A | CA1705263 | DYSF | c.231G>A (p.Arg77=) c.234G>A (p.Arg78=) n.392G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481965G>C | CA347216566 | DYSF | c.231G>C (p.Arg77Ser) c.234G>C (p.Arg78Ser) n.392G>C | |
2 | g.71481965G= | CA1260062209 | DYSF | c.231G= (p.Arg77=) c.234G= (p.Arg78=) n.392G= | |
2 | g.71481965G>T | CA347216567 | DYSF | c.231G>T (p.Arg77Ser) c.234G>T (p.Arg78Ser) n.392G>T | |
2 | g.71481966A>C | CA347216569 | DYSF | c.232A>C (p.Asn78His) c.235A>C (p.Asn79His) n.393A>C | |
2 | g.71481966A>G | CA347216570 | DYSF | c.232A>G (p.Asn78Asp) c.235A>G (p.Asn79Asp) n.393A>G | |
2 | g.71481966A>T | CA347216571 | DYSF | c.232A>T (p.Asn78Tyr) c.235A>T (p.Asn79Tyr) n.393A>T | gnomAD v4 |
2 | g.71481967A>C | CA347216574 | DYSF | c.233A>C (p.Asn78Thr) c.236A>C (p.Asn79Thr) n.394A>C | |
2 | g.71481967A>G | CA347216575 | DYSF | c.233A>G (p.Asn78Ser) c.236A>G (p.Asn79Ser) n.394A>G | |
2 | g.71481967A>T | CA347216576 | DYSF | c.233A>T (p.Asn78Ile) c.236A>T (p.Asn79Ile) n.394A>T | |
2 | g.71481968C>A | CA347216578 | DYSF | c.234C>A (p.Asn78Lys) c.237C>A (p.Asn79Lys) n.395C>A | |
2 | g.71481968C>G | CA347216580 | DYSF | c.234C>G (p.Asn78Lys) c.237C>G (p.Asn79Lys) n.395C>G | |
2 | g.71481968C>T | CA426699554 | DYSF | c.234C>T (p.Asn78=) c.237C>T (p.Asn79=) n.395C>T | |
2 | g.71481969A>C | CA426699555 | DYSF | c.235A>C (p.Arg79=) c.238A>C (p.Arg80=) n.396A>C | gnomAD v4 |
2 | g.71481969A>G | CA347216582 | DYSF | c.235A>G (p.Arg79Gly) c.238A>G (p.Arg80Gly) n.396A>G | |
2 | g.71481969A>T | CA347216584 | DYSF | c.235A>T (p.Arg79Trp) c.238A>T (p.Arg80Trp) n.396A>T | |
2 | g.71481970G>A | CA347216585 | DYSF | c.236G>A (p.Arg79Lys) c.239G>A (p.Arg80Lys) n.397G>A | gnomAD v4 |
2 | g.71481970G>C | CA347216587 | DYSF | c.236G>C (p.Arg79Thr) c.239G>C (p.Arg80Thr) n.397G>C | |
2 | g.71481970G= | CA1260062210 | DYSF | c.236G= (p.Arg79=) c.239G= (p.Arg80=) n.397G= | |
2 | g.71481970G>T | CA347216586 | DYSF | c.236G>T (p.Arg79Met) c.239G>T (p.Arg80Met) n.397G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481971G>A | CA347216589 | DYSF | c.236+1G>A (n.236+1G>A) c.239+1G>A (n.239+1G>A) n.397+1G>A | gnomAD v4 |
2 | g.71481971G>C | CA347216590 | DYSF | c.236+1G>C (n.236+1G>C) c.239+1G>C (n.239+1G>C) n.397+1G>C | |
2 | g.71481971G>T | CA347216591 | DYSF | c.236+1G>T (n.236+1G>T) c.239+1G>T (n.239+1G>T) n.397+1G>T | gnomAD v4 |
2 | g.71481972T>A | CA347216593 | DYSF | c.236+2T>A (n.236+2T>A) c.239+2T>A (n.239+2T>A) n.397+2T>A | |
2 | g.71481972T>C | CA347216596 | DYSF | c.236+2T>C (n.236+2T>C) c.239+2T>C (n.239+2T>C) n.397+2T>C | |
2 | g.71481972T>G | CA347216598 | DYSF | c.236+2T>G (n.236+2T>G) c.239+2T>G (n.239+2T>G) n.397+2T>G | gnomAD v4 |
2 | g.71481975G= | CA1260062211 | DYSF | c.236+5G= (n.236+5G=) c.239+5G= (n.239+5G=) n.397+5G= | |
2 | g.71481975G>T | CA1705264 | DYSF | c.236+5G>T (n.236+5G>T) c.239+5G>T (n.239+5G>T) n.397+5G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481976G>A | CA1260062213 | DYSF | c.236+6G>A (n.236+6G>A) c.239+6G>A (n.239+6G>A) n.397+6G>A | dbSNP |
2 | g.71481976G= | CA1260062212 | DYSF | c.236+6G= (n.236+6G=) c.239+6G= (n.239+6G=) n.397+6G= | |
2 | g.71481976G>T | CA2659543031 | DYSF | c.236+6G>T (n.236+6G>T) c.239+6G>T (n.239+6G>T) n.397+6G>T | gnomAD v4 |
2 | g.71481977T>A | CA2739274503 | DYSF | c.236+7T>A (n.236+7T>A) c.239+7T>A (n.239+7T>A) n.397+7T>A | ClinVar |
2 | g.71481977T>G | CA2576999461 | DYSF | c.236+7T>G (n.236+7T>G) c.239+7T>G (n.239+7T>G) n.397+7T>G | ClinVar gnomAD v4 |
2 | g.71481978G>A | CA49751204 | DYSF | c.236+8G>A (n.236+8G>A) c.239+8G>A (n.239+8G>A) n.397+8G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71481978G= | CA1260062214 | DYSF | c.236+8G= (n.236+8G=) c.239+8G= (n.239+8G=) n.397+8G= | |
2 | g.71481980C>A | CA2659543033 | DYSF | c.236+10C>A (n.236+10C>A) c.239+10C>A (n.239+10C>A) n.397+10C>A | gnomAD v4 |
2 | g.71481980C= | CA1260062215 | DYSF | c.236+10C= (n.236+10C=) c.239+10C= (n.239+10C=) n.397+10C= | |
2 | g.71481980C>T | CA533256134 | DYSF | c.236+10C>T (n.236+10C>T) c.239+10C>T (n.239+10C>T) n.397+10C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71481981del | CA2659543032 | DYSF | c.236+11del (n.236+11del) c.239+11del (n.239+11del) n.397+11del | gnomAD v4 |
2 | g.71481981C>A | CA2576999462 | DYSF | c.236+11C>A (n.236+11C>A) c.239+11C>A (n.239+11C>A) n.397+11C>A | |
2 | g.71481982del | CA2750412910 | DYSF | c.236+12del (n.236+12del) c.239+12del (n.239+12del) n.397+12del |