| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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) |