Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.4417961_4417964del | CA68802637 | SUMF1 | c.725+55_725+58del (n.725+55_725+58del) c.650+55_650+58del (n.650+55_650+58del) c.445-6977_445-6974del (n.445-6977_445-6974del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417957_4417961dup | CA2577493081 | SUMF1 | c.725+51_725+55dup (n.725+51_725+55dup) c.650+51_650+55dup (n.650+51_650+55dup) c.445-6981_445-6977dup (n.445-6981_445-6977dup) | |
3 | g.4417961T>C | CA2230475 | SUMF1 | c.725+49A>G (n.725+49A>G) c.650+49A>G (n.650+49A>G) c.445-6983A>G (n.445-6983A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4417961T= | CA1342154100 | SUMF1 | c.725+49A= (n.725+49A=) c.650+49A= (n.650+49A=) c.445-6983A= (n.445-6983A=) | |
3 | g.4417963_4417994del | CA2664206502 | SUMF1 | c.725+18_725+49del (n.725+18_725+49del) c.650+18_650+49del (n.650+18_650+49del) c.445-7014_445-6983del (n.445-7014_445-6983del) | gnomAD v4 |
3 | g.4417962G>A | CA2230476 | SUMF1 | c.725+48C>T (n.725+48C>T) c.650+48C>T (n.650+48C>T) c.445-6984C>T (n.445-6984C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417962G= | CA1342154103 | SUMF1 | c.725+48C= (n.725+48C=) c.650+48C= (n.650+48C=) c.445-6984C= (n.445-6984C=) | |
3 | g.4417963T>C | CA2577493082 | SUMF1 | c.725+47A>G (n.725+47A>G) c.650+47A>G (n.650+47A>G) c.445-6985A>G (n.445-6985A>G) | |
3 | g.4417964T>G | CA2664206503 | SUMF1 | c.725+46A>C (n.725+46A>C) c.650+46A>C (n.650+46A>C) c.445-6986A>C (n.445-6986A>C) | gnomAD v4 |
3 | g.4417968A= | CA1342154105 | SUMF1 | c.725+42T= (n.725+42T=) c.650+42T= (n.650+42T=) c.445-6990T= (n.445-6990T=) | |
3 | g.4417968A>C | CA907350795 | SUMF1 | c.725+42T>G (n.725+42T>G) c.650+42T>G (n.650+42T>G) c.445-6990T>G (n.445-6990T>G) | dbSNP |
3 | g.4417969T>C | CA2230477 | SUMF1 | c.725+41A>G (n.725+41A>G) c.650+41A>G (n.650+41A>G) c.445-6991A>G (n.445-6991A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417969T= | CA1342154106 | SUMF1 | c.725+41A= (n.725+41A=) c.650+41A= (n.650+41A=) c.445-6991A= (n.445-6991A=) | |
3 | g.4417973C>G | CA2664206504 | SUMF1 | c.725+37G>C (n.725+37G>C) c.650+37G>C (n.650+37G>C) c.445-6995G>C (n.445-6995G>C) | gnomAD v4 |
3 | g.4417974A= | CA1342154108 | SUMF1 | c.725+36T= (n.725+36T=) c.650+36T= (n.650+36T=) c.445-6996T= (n.445-6996T=) | |
3 | g.4417974A>G | CA2230478 | SUMF1 | c.725+36T>C (n.725+36T>C) c.650+36T>C (n.650+36T>C) c.445-6996T>C (n.445-6996T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417974A>T | CA1342154109 | SUMF1 | c.725+36T>A (n.725+36T>A) c.650+36T>A (n.650+36T>A) c.445-6996T>A (n.445-6996T>A) | dbSNP |
3 | g.4417975A>G | CA2664206505 | SUMF1 | c.725+35T>C (n.725+35T>C) c.650+35T>C (n.650+35T>C) c.445-6997T>C (n.445-6997T>C) | gnomAD v4 |
3 | g.4417976C= | CA1342154111 | SUMF1 | c.725+34G= (n.725+34G=) c.650+34G= (n.650+34G=) c.445-6998G= (n.445-6998G=) | |
3 | g.4417976C>T | CA1342154112 | SUMF1 | c.725+34G>A (n.725+34G>A) c.650+34G>A (n.650+34G>A) c.445-6998G>A (n.445-6998G>A) | dbSNP |
3 | g.4417977A>C | CA2664206507 | SUMF1 | c.725+33T>G (n.725+33T>G) c.650+33T>G (n.650+33T>G) c.445-6999T>G (n.445-6999T>G) | gnomAD v4 |
3 | g.4417977A>G | CA2664206506 | SUMF1 | c.725+33T>C (n.725+33T>C) c.650+33T>C (n.650+33T>C) c.445-6999T>C (n.445-6999T>C) | gnomAD v4 |
3 | g.4417977_4417978insATA | CA68802651 | SUMF1 | c.725+33_725+34insATT (n.725+33_725+34insATT) c.650+33_650+34insATT (n.650+33_650+34insATT) c.445-6999_445-6998insATT (n.445-6999_445-6998insATT) | dbSNP |
3 | g.4417978T>C | CA2664206508 | SUMF1 | c.725+32A>G (n.725+32A>G) c.650+32A>G (n.650+32A>G) c.445-7000A>G (n.445-7000A>G) | dbSNP gnomAD v4 |
3 | g.4417980T>C | CA2577493083 | SUMF1 | c.725+30A>G (n.725+30A>G) c.650+30A>G (n.650+30A>G) c.445-7002A>G (n.445-7002A>G) | |
3 | g.4417980T>G | CA1044559713 | SUMF1 | c.725+30A>C (n.725+30A>C) c.650+30A>C (n.650+30A>C) c.445-7002A>C (n.445-7002A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.4417980T= | CA1342154115 | SUMF1 | c.725+30A= (n.725+30A=) c.650+30A= (n.650+30A=) c.445-7002A= (n.445-7002A=) | |
3 | g.4417981T>C | CA2664206509 | SUMF1 | c.725+29A>G (n.725+29A>G) c.650+29A>G (n.650+29A>G) c.445-7003A>G (n.445-7003A>G) | gnomAD v4 |
3 | g.4417982G= | CA1342154116 | SUMF1 | c.725+28C= (n.725+28C=) c.650+28C= (n.650+28C=) c.445-7004C= (n.445-7004C=) | |
3 | g.4417982G>T | CA68802656 | SUMF1 | c.725+28C>A (n.725+28C>A) c.650+28C>A (n.650+28C>A) c.445-7004C>A (n.445-7004C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.4417984C>A | CA2664206510 | SUMF1 | c.725+26G>T (n.725+26G>T) c.650+26G>T (n.650+26G>T) c.445-7006G>T (n.445-7006G>T) | gnomAD v4 |
3 | g.4417986G>A | CA2230479 | SUMF1 | c.725+24C>T (n.725+24C>T) c.650+24C>T (n.650+24C>T) c.445-7008C>T (n.445-7008C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417986G= | CA1342154118 | SUMF1 | c.725+24C= (n.725+24C=) c.650+24C= (n.650+24C=) c.445-7008C= (n.445-7008C=) | |
3 | g.4417987G>A | CA540800622 | SUMF1 | c.725+23C>T (n.725+23C>T) c.650+23C>T (n.650+23C>T) c.445-7009C>T (n.445-7009C>T) | gnomAD v2 |
3 | g.4417987G>C | CA2230481 | SUMF1 | c.725+23C>G (n.725+23C>G) c.650+23C>G (n.650+23C>G) c.445-7009C>G (n.445-7009C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417987G= | CA1342154120 | SUMF1 | c.725+23C= (n.725+23C=) c.650+23C= (n.650+23C=) c.445-7009C= (n.445-7009C=) | |
3 | g.4417987G>T | CA2755048865 | SUMF1 | c.725+23C>A (n.725+23C>A) c.650+23C>A (n.650+23C>A) c.445-7009C>A (n.445-7009C>A) | |
3 | g.4417987_4417988delinsGC | CA1342154121 | SUMF1 | c.725+22_725+23delinsGC (n.725+22_725+23delinsGC) c.650+22_650+23delinsGC (n.650+22_650+23delinsGC) c.445-7010_445-7009delinsGC (n.445-7010_445-7009delinsGC) | |
3 | g.4417988del | CA2230480 | SUMF1 | c.725+22del (n.725+22del) c.650+22del (n.650+22del) c.445-7010del (n.445-7010del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4417988C= | CA1342154123 | SUMF1 | c.725+22G= (n.725+22G=) c.650+22G= (n.650+22G=) c.445-7010G= (n.445-7010G=) | |
3 | g.4417988C>G | CA2664206511 | SUMF1 | c.725+22G>C (n.725+22G>C) c.650+22G>C (n.650+22G>C) c.445-7010G>C (n.445-7010G>C) | gnomAD v4 |
3 | g.4417988C>T | CA540800631 | SUMF1 | c.725+22G>A (n.725+22G>A) c.650+22G>A (n.650+22G>A) c.445-7010G>A (n.445-7010G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417991A= | CA1342154125 | SUMF1 | c.725+19T= (n.725+19T=) c.650+19T= (n.650+19T=) c.445-7013T= (n.445-7013T=) | |
3 | g.4417991A>G | CA1342154124 | SUMF1 | c.725+19T>C (n.725+19T>C) c.650+19T>C (n.650+19T>C) c.445-7013T>C (n.445-7013T>C) | dbSNP |
3 | g.4417993del | CA2697550631 | SUMF1 | c.725+17del (n.725+17del) c.650+17del (n.650+17del) c.445-7015del (n.445-7015del) | ClinVar |
3 | g.4417993T>C | CA540800633 | SUMF1 | c.725+17A>G (n.725+17A>G) c.650+17A>G (n.650+17A>G) c.445-7015A>G (n.445-7015A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.4417993T>G | CA2664206512 | SUMF1 | c.725+17A>C (n.725+17A>C) c.650+17A>C (n.650+17A>C) c.445-7015A>C (n.445-7015A>C) | ClinVar gnomAD v4 |
3 | g.4417993T= | CA1342154127 | SUMF1 | c.725+17A= (n.725+17A=) c.650+17A= (n.650+17A=) c.445-7015A= (n.445-7015A=) | |
3 | g.4417994G>A | CA1044559719 | SUMF1 | c.725+16C>T (n.725+16C>T) c.650+16C>T (n.650+16C>T) c.445-7016C>T (n.445-7016C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.4417994G= | CA1342154128 | SUMF1 | c.725+16C= (n.725+16C=) c.650+16C= (n.650+16C=) c.445-7016C= (n.445-7016C=) | |
3 | g.4417994G>T | CA2664206513 | SUMF1 | c.725+16C>A (n.725+16C>A) c.650+16C>A (n.650+16C>A) c.445-7016C>A (n.445-7016C>A) | gnomAD v4 |
3 | g.4417995A= | CA1342154131 | SUMF1 | c.725+15T= (n.725+15T=) c.650+15T= (n.650+15T=) c.445-7017T= (n.445-7017T=) | |
3 | g.4417995A>G | CA68802707 | SUMF1 | c.725+15T>C (n.725+15T>C) c.650+15T>C (n.650+15T>C) c.445-7017T>C (n.445-7017T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417996G>A | CA2230482 | SUMF1 | c.725+14C>T (n.725+14C>T) c.650+14C>T (n.650+14C>T) c.445-7018C>T (n.445-7018C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4417996G= | CA1342154134 | SUMF1 | c.725+14C= (n.725+14C=) c.650+14C= (n.650+14C=) c.445-7018C= (n.445-7018C=) | |
3 | g.4417997A= | CA1342154136 | SUMF1 | c.725+13T= (n.725+13T=) c.650+13T= (n.650+13T=) c.445-7019T= (n.445-7019T=) | |
3 | g.4417997A>G | CA540800635 | SUMF1 | c.725+13T>C (n.725+13T>C) c.650+13T>C (n.650+13T>C) c.445-7019T>C (n.445-7019T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.4417998T>C | CA2664206514 | SUMF1 | c.725+12A>G (n.725+12A>G) c.650+12A>G (n.650+12A>G) c.445-7020A>G (n.445-7020A>G) | gnomAD v4 |
3 | g.4417999C= | CA1342154139 | SUMF1 | c.725+11G= (n.725+11G=) c.650+11G= (n.650+11G=) c.445-7021G= (n.445-7021G=) | |
3 | g.4417999C>G | CA2230483 | SUMF1 | c.725+11G>C (n.725+11G>C) c.650+11G>C (n.650+11G>C) c.445-7021G>C (n.445-7021G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4417999C>T | CA540800636 | SUMF1 | c.725+11G>A (n.725+11G>A) c.650+11G>A (n.650+11G>A) c.445-7021G>A (n.445-7021G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.4418000C= | CA1342154141 | SUMF1 | c.725+10G= (n.725+10G=) c.650+10G= (n.650+10G=) c.445-7022G= (n.445-7022G=) | |
3 | g.4418000C>T | CA2230484 | SUMF1 | c.725+10G>A (n.725+10G>A) c.650+10G>A (n.650+10G>A) c.445-7022G>A (n.445-7022G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4418002C>G | CA2739278989 | SUMF1 | c.725+8G>C (n.725+8G>C) c.650+8G>C (n.650+8G>C) c.445-7024G>C (n.445-7024G>C) | ClinVar |
3 | g.4418002C>T | CA2577493084 | SUMF1 | c.725+8G>A (n.725+8G>A) c.650+8G>A (n.650+8G>A) c.445-7024G>A (n.445-7024G>A) | gnomAD v4 |
3 | g.4418006A= | CA1342154143 | SUMF1 | c.725+4T= (n.725+4T=) c.650+4T= (n.650+4T=) c.445-7028T= (n.445-7028T=) | |
3 | g.4418006A>C | CA2230485 | SUMF1 | c.725+4T>G (n.725+4T>G) c.650+4T>G (n.650+4T>G) c.445-7028T>G (n.445-7028T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4418008A>C | CA351632346 | SUMF1 | c.725+2T>G (n.725+2T>G) c.650+2T>G (n.650+2T>G) c.445-7030T>G (n.445-7030T>G) | |
3 | g.4418008A>G | CA351632347 | SUMF1 | c.725+2T>C (n.725+2T>C) c.650+2T>C (n.650+2T>C) c.445-7030T>C (n.445-7030T>C) | |
3 | g.4418008A>T | CA351632349 | SUMF1 | c.725+2T>A (n.725+2T>A) c.650+2T>A (n.650+2T>A) c.445-7030T>A (n.445-7030T>A) | |
3 | g.4418009C>A | CA351632351 | SUMF1 | c.725+1G>T (n.725+1G>T) c.650+1G>T (n.650+1G>T) c.445-7031G>T (n.445-7031G>T) | |
3 | g.4418009C>G | CA351632353 | SUMF1 | c.725+1G>C (n.725+1G>C) c.650+1G>C (n.650+1G>C) c.445-7031G>C (n.445-7031G>C) | |
3 | g.4418009C>T | CA351632354 | SUMF1 | c.725+1G>A (n.725+1G>A) c.650+1G>A (n.650+1G>A) c.445-7031G>A (n.445-7031G>A) | |
3 | g.4418010C>A | CA351632355 | SUMF1 | c.725G>T (p.Arg242Ile) c.650G>T (p.Arg217Ile) c.445-7032G>T (n.445-7032G>T) | |
3 | g.4418010C= | CA1342154146 | SUMF1 | c.725G= (p.Arg242=) c.650G= (p.Arg217=) c.445-7032G= (n.445-7032G=) | |
3 | g.4418010C>G | CA351632356 | SUMF1 | c.725G>C (p.Arg242Thr) c.650G>C (p.Arg217Thr) c.445-7032G>C (n.445-7032G>C) | |
3 | g.4418010C>T | CA351632357 | SUMF1 | c.725G>A (p.Arg242Lys) c.650G>A (p.Arg217Lys) c.445-7032G>A (n.445-7032G>A) | |
3 | g.4418011T>A | CA2230487 | SUMF1 | c.724A>T (p.Arg242Ter) c.649A>T (p.Arg217Ter) c.445-7033A>T (n.445-7033A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4418011T>C | CA2230488 | SUMF1 | c.724A>G (p.Arg242Gly) c.649A>G (p.Arg217Gly) c.445-7033A>G (n.445-7033A>G) | dbSNP ExAC gnomAD v2 |
3 | g.4418011T>G | CA432313245 | SUMF1 | c.724A>C (p.Arg242=) c.649A>C (p.Arg217=) c.445-7033A>C (n.445-7033A>C) | |
3 | g.4418011T= | CA1342154151 | SUMF1 | c.724A= (p.Arg242=) c.649A= (p.Arg217=) c.445-7033A= (n.445-7033A=) | |
3 | g.4418011dup | CA2230486 | SUMF1 | c.724dup (p.Arg242LysfsTer?) c.649dup (p.Arg217LysfsTer?) c.445-7033dup (n.445-7033dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4418012A>C | CA351632363 | SUMF1 | c.723T>G (p.Asn241Lys) c.648T>G (p.Asn216Lys) c.445-7034T>G (n.445-7034T>G) | |
3 | g.4418012A>G | CA432313261 | SUMF1 | c.723T>C (p.Asn241=) c.648T>C (p.Asn216=) c.445-7034T>C (n.445-7034T>C) | gnomAD v4 COSMIC COSMIC |
3 | g.4418012A>T | CA351632370 | SUMF1 | c.723T>A (p.Asn241Lys) c.648T>A (p.Asn216Lys) c.445-7034T>A (n.445-7034T>A) | |
3 | g.4418013T>A | CA351632373 | SUMF1 | c.722A>T (p.Asn241Ile) c.647A>T (p.Asn216Ile) c.445-7035A>T (n.445-7035A>T) | |
3 | g.4418013T>C | CA2230489 | SUMF1 | c.722A>G (p.Asn241Ser) c.647A>G (p.Asn216Ser) c.445-7035A>G (n.445-7035A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4418013T>G | CA351632375 | SUMF1 | c.722A>C (p.Asn241Thr) c.647A>C (p.Asn216Thr) c.445-7035A>C (n.445-7035A>C) | |
3 | g.4418013T= | CA1342154160 | SUMF1 | c.722A= (p.Asn241=) c.647A= (p.Asn216=) c.445-7035A= (n.445-7035A=) | |
3 | g.4418014T>A | CA351632379 | SUMF1 | c.721A>T (p.Asn241Tyr) c.646A>T (p.Asn216Tyr) c.445-7036A>T (n.445-7036A>T) | |
3 | g.4418014T>C | CA351632380 | SUMF1 | c.721A>G (p.Asn241Asp) c.646A>G (p.Asn216Asp) c.445-7036A>G (n.445-7036A>G) | gnomAD v4 COSMIC COSMIC |
3 | g.4418014T>G | CA351632382 | SUMF1 | c.721A>C (p.Asn241His) c.646A>C (p.Asn216His) c.445-7036A>C (n.445-7036A>C) | |
3 | g.4418015A>C | CA351632386 | SUMF1 | c.720T>G (p.His240Gln) c.645T>G (p.His215Gln) c.445-7037T>G (n.445-7037T>G) | ClinVar |
3 | g.4418015A>G | CA432313276 | SUMF1 | c.720T>C (p.His240=) c.645T>C (p.His215=) c.445-7037T>C (n.445-7037T>C) | |
3 | g.4418015A>T | CA351632388 | SUMF1 | c.720T>A (p.His240Gln) c.645T>A (p.His215Gln) c.445-7037T>A (n.445-7037T>A) | |
3 | g.4418016T>A | CA351632391 | SUMF1 | c.719A>T (p.His240Leu) c.644A>T (p.His215Leu) c.445-7038A>T (n.445-7038A>T) | |
3 | g.4418016T>C | CA2230490 | SUMF1 | c.719A>G (p.His240Arg) c.644A>G (p.His215Arg) c.445-7038A>G (n.445-7038A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4418016T>G | CA351632393 | SUMF1 | c.719A>C (p.His240Pro) c.644A>C (p.His215Pro) c.445-7038A>C (n.445-7038A>C) | |
3 | g.4418016T= | CA1342154163 | SUMF1 | c.719A= (p.His240=) c.644A= (p.His215=) c.445-7038A= (n.445-7038A=) | |
3 | g.4418017G>A | CA2230491 | SUMF1 | c.718C>T (p.His240Tyr) c.643C>T (p.His215Tyr) c.445-7039C>T (n.445-7039C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.4418017G>C | CA351632398 | SUMF1 | c.718C>G (p.His240Asp) c.643C>G (p.His215Asp) c.445-7039C>G (n.445-7039C>G) | |
3 | g.4418017G= | CA1342154165 | SUMF1 | c.718C= (p.His240=) c.643C= (p.His215=) c.445-7039C= (n.445-7039C=) | |
3 | g.4418017G>T | CA351632396 | SUMF1 | c.718C>A (p.His240Asn) c.643C>A (p.His215Asn) c.445-7039C>A (n.445-7039C>A) | |
3 | g.4418018C>A | CA432313316 | SUMF1 | c.717G>T (p.Leu239=) c.642G>T (p.Leu214=) c.445-7040G>T (n.445-7040G>T) | |
3 | g.4418018C= | CA1342154170 | SUMF1 | c.717G= (p.Leu239=) c.642G= (p.Leu214=) c.445-7040G= (n.445-7040G=) | |
3 | g.4418018C>G | CA432313342 | SUMF1 | c.717G>C (p.Leu239=) c.642G>C (p.Leu214=) c.445-7040G>C (n.445-7040G>C) | |
3 | g.4418018C>T | CA68802749 | SUMF1 | c.717G>A (p.Leu239=) c.642G>A (p.Leu214=) c.445-7040G>A (n.445-7040G>A) | dbSNP gnomAD v4 |
3 | g.4418019A>C | CA351632401 | SUMF1 | c.716T>G (p.Leu239Arg) c.641T>G (p.Leu214Arg) c.445-7041T>G (n.445-7041T>G) | |
3 | g.4418019A>G | CA351632405 | SUMF1 | c.716T>C (p.Leu239Pro) c.641T>C (p.Leu214Pro) c.445-7041T>C (n.445-7041T>C) | |
3 | g.4418019A>T | CA351632403 | SUMF1 | c.716T>A (p.Leu239Gln) c.641T>A (p.Leu214Gln) c.445-7041T>A (n.445-7041T>A) | |
3 | g.4418020G>A | CA2230492 | SUMF1 | c.715C>T (p.Leu239=) c.640C>T (p.Leu214=) c.445-7042C>T (n.445-7042C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.4418020G>C | CA351632408 | SUMF1 | c.715C>G (p.Leu239Val) c.640C>G (p.Leu214Val) c.445-7042C>G (n.445-7042C>G) | |
3 | g.4418020G= | CA1342154173 | SUMF1 | c.715C= (p.Leu239=) c.640C= (p.Leu214=) c.445-7042C= (n.445-7042C=) | |
3 | g.4418020G>T | CA351632410 | SUMF1 | c.715C>A (p.Leu239Met) c.640C>A (p.Leu214Met) c.445-7042C>A (n.445-7042C>A) | |
3 | g.4418021G>A | CA432313368 | SUMF1 | c.714C>T (p.Gly238=) c.639C>T (p.Gly213=) c.445-7043C>T (n.445-7043C>T) | |
3 | g.4418021G>C | CA432313372 | SUMF1 | c.714C>G (p.Gly238=) c.639C>G (p.Gly213=) c.445-7043C>G (n.445-7043C>G) | |
3 | g.4418021G>T | CA432313375 | SUMF1 | c.714C>A (p.Gly238=) c.639C>A (p.Gly213=) c.445-7043C>A (n.445-7043C>A) | |
3 | g.4418022C>A | CA351632412 | SUMF1 | c.713G>T (p.Gly238Val) c.638G>T (p.Gly213Val) c.445-7044G>T (n.445-7044G>T) | |
3 | g.4418022C= | CA1342154177 | SUMF1 | c.713G= (p.Gly238=) c.638G= (p.Gly213=) c.445-7044G= (n.445-7044G=) | |
3 | g.4418022C>G | CA351632414 | SUMF1 | c.713G>C (p.Gly238Ala) c.638G>C (p.Gly213Ala) c.445-7044G>C (n.445-7044G>C) | |
3 | g.4418022C>T | CA68802754 | SUMF1 | c.713G>A (p.Gly238Asp) c.638G>A (p.Gly213Asp) c.445-7044G>A (n.445-7044G>A) | dbSNP |
3 | g.4418023C>A | CA351632417 | SUMF1 | c.712G>T (p.Gly238Cys) c.637G>T (p.Gly213Cys) c.445-7045G>T (n.445-7045G>T) | |
3 | g.4418023C>G | CA351632419 | SUMF1 | c.712G>C (p.Gly238Arg) c.637G>C (p.Gly213Arg) c.445-7045G>C (n.445-7045G>C) | |
3 | g.4418023C>T | CA351632421 | SUMF1 | c.712G>A (p.Gly238Ser) c.637G>A (p.Gly213Ser) c.445-7045G>A (n.445-7045G>A) | |
3 | g.4418024T>A | CA432313385 | SUMF1 | c.711A>T (p.Gly237=) c.636A>T (p.Gly212=) c.445-7046A>T (n.445-7046A>T) | |
3 | g.4418024T>C | CA432313388 | SUMF1 | c.711A>G (p.Gly237=) c.636A>G (p.Gly212=) c.445-7046A>G (n.445-7046A>G) | |
3 | g.4418024T>G | CA432313396 | SUMF1 | c.711A>C (p.Gly237=) c.636A>C (p.Gly212=) c.445-7046A>C (n.445-7046A>C) | |
3 | g.4418025C>A | CA351632424 | SUMF1 | c.710G>T (p.Gly237Val) c.635G>T (p.Gly212Val) c.445-7047G>T (n.445-7047G>T) | |
3 | g.4418025C>G | CA351632426 | SUMF1 | c.710G>C (p.Gly237Ala) c.635G>C (p.Gly212Ala) c.445-7047G>C (n.445-7047G>C) | |
3 | g.4418025C>T | CA351632427 | SUMF1 | c.710G>A (p.Gly237Glu) c.635G>A (p.Gly212Glu) c.445-7047G>A (n.445-7047G>A) | gnomAD v4 |
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 |