| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151186910_151186917dup | CA4573957 | ASB10 | c.217_224dup (p.Asp76SerfsTer?) c.272-255_272-248dup (n.272-255_272-248dup) c.*261_*268dup (n.*261_*268dup) c.352_359dup (p.Asp121SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186916C>A | CA370037522 | ASB10 | c.215G>T (p.Arg72Leu) c.272-257G>T (n.272-257G>T) c.*259G>T (n.*259G>T) c.350G>T (p.Arg117Leu) | gnomAD v4 |
| 7 | g.151186916C= | CA1752545618 | ASB10 | c.215G= (p.Arg72=) c.272-257G= (n.272-257G=) c.*259G= (n.*259G=) c.350G= (p.Arg117=) | |
| 7 | g.151186916C>G | CA370037523 | ASB10 | c.215G>C (p.Arg72Pro) c.272-257G>C (n.272-257G>C) c.*259G>C (n.*259G>C) c.350G>C (p.Arg117Pro) | gnomAD v4 |
| 7 | g.151186916C>T | CA143901 | ASB10 | c.215G>A (p.Arg72His) c.272-257G>A (n.272-257G>A) c.*259G>A (n.*259G>A) c.350G>A (p.Arg117His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186917G>A | CA4573964 | ASB10 | c.214C>T (p.Arg72Cys) c.272-258C>T (n.272-258C>T) c.*258C>T (n.*258C>T) c.349C>T (p.Arg117Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186917G>C | CA4573965 | ASB10 | c.214C>G (p.Arg72Gly) c.272-258C>G (n.272-258C>G) c.*258C>G (n.*258C>G) c.349C>G (p.Arg117Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186917G= | CA1752545623 | ASB10 | c.214C= (p.Arg72=) c.272-258C= (n.272-258C=) c.*258C= (n.*258C=) c.349C= (p.Arg117=) | |
| 7 | g.151186917G>T | CA370037525 | ASB10 | c.214C>A (p.Arg72Ser) c.272-258C>A (n.272-258C>A) c.*258C>A (n.*258C>A) c.349C>A (p.Arg117Ser) | |
| 7 | g.151186919del | CA2685657627 | ASB10 | c.214del (p.Arg72AlafsTer?) c.272-258del (n.272-258del) c.*258del (n.*258del) c.349del (p.Arg117AlafsTer?) | gnomAD v4 |
| 7 | g.151186918G>A | CA458881519 | ASB10 | c.213C>T (p.Ser71=) c.272-259C>T (n.272-259C>T) c.*257C>T (n.*257C>T) c.348C>T (p.Ser116=) | |
| 7 | g.151186918G>C | CA458881521 | ASB10 | c.213C>G (p.Ser71=) c.272-259C>G (n.272-259C>G) c.*257C>G (n.*257C>G) c.348C>G (p.Ser116=) | |
| 7 | g.151186918G>T | CA458881520 | ASB10 | c.213C>A (p.Ser71=) c.272-259C>A (n.272-259C>A) c.*257C>A (n.*257C>A) c.348C>A (p.Ser116=) | |
| 7 | g.151186919G>A | CA370037527 | ASB10 | c.212C>T (p.Ser71Phe) c.272-260C>T (n.272-260C>T) c.*256C>T (n.*256C>T) c.347C>T (p.Ser116Phe) | |
| 7 | g.151186919G>C | CA370037528 | ASB10 | c.212C>G (p.Ser71Cys) c.272-260C>G (n.272-260C>G) c.*256C>G (n.*256C>G) c.347C>G (p.Ser116Cys) | gnomAD v4 |
| 7 | g.151186919G>T | CA370037530 | ASB10 | c.212C>A (p.Ser71Tyr) c.272-260C>A (n.272-260C>A) c.*256C>A (n.*256C>A) c.347C>A (p.Ser116Tyr) | |
| 7 | g.151186920A>C | CA370037531 | ASB10 | c.211T>G (p.Ser71Ala) c.272-261T>G (n.272-261T>G) c.*255T>G (n.*255T>G) c.346T>G (p.Ser116Ala) | |
| 7 | g.151186920A>G | CA370037533 | ASB10 | c.211T>C (p.Ser71Pro) c.272-261T>C (n.272-261T>C) c.*255T>C (n.*255T>C) c.346T>C (p.Ser116Pro) | |
| 7 | g.151186920A>T | CA370037534 | ASB10 | c.211T>A (p.Ser71Thr) c.272-261T>A (n.272-261T>A) c.*255T>A (n.*255T>A) c.346T>A (p.Ser116Thr) | |
| 7 | g.151186921G>A | CA458881525 | ASB10 | c.210C>T (p.Val70=) c.272-262C>T (n.272-262C>T) c.*254C>T (n.*254C>T) c.345C>T (p.Val115=) | |
| 7 | g.151186921G>C | CA458881526 | ASB10 | c.210C>G (p.Val70=) c.272-262C>G (n.272-262C>G) c.*254C>G (n.*254C>G) c.345C>G (p.Val115=) | |
| 7 | g.151186921G= | CA1752545628 | ASB10 | c.210C= (p.Val70=) c.272-262C= (n.272-262C=) c.*254C= (n.*254C=) c.345C= (p.Val115=) | |
| 7 | g.151186921G>T | CA4573966 | ASB10 | c.210C>A (p.Val70=) c.272-262C>A (n.272-262C>A) c.*254C>A (n.*254C>A) c.345C>A (p.Val115=) | dbSNP ExAC gnomAD v2 |
| 7 | g.151186922A>C | CA370037536 | ASB10 | c.209T>G (p.Val70Gly) c.272-263T>G (n.272-263T>G) c.*253T>G (n.*253T>G) c.344T>G (p.Val115Gly) | |
| 7 | g.151186922A>G | CA370037535 | ASB10 | c.209T>C (p.Val70Ala) c.272-263T>C (n.272-263T>C) c.*253T>C (n.*253T>C) c.344T>C (p.Val115Ala) | |
| 7 | g.151186922A>T | CA370037538 | ASB10 | c.209T>A (p.Val70Asp) c.272-263T>A (n.272-263T>A) c.*253T>A (n.*253T>A) c.344T>A (p.Val115Asp) | |
| 7 | g.151186925_151186926del | CA458881528 | ASB10 | c.208_209del (p.Val70LeufsTer14) c.272-264_272-263del (n.272-264_272-263del) c.*252_*253del (n.*252_*253del) c.343_344del (p.Val115LeufsTer14) | |
| 7 | g.151186923C>A | CA370037540 | ASB10 | c.208G>T (p.Val70Phe) c.272-264G>T (n.272-264G>T) c.*252G>T (n.*252G>T) c.343G>T (p.Val115Phe) | |
| 7 | g.151186923C>G | CA370037541 | ASB10 | c.208G>C (p.Val70Leu) c.272-264G>C (n.272-264G>C) c.*252G>C (n.*252G>C) c.343G>C (p.Val115Leu) | |
| 7 | g.151186923C>T | CA370037542 | ASB10 | c.208G>A (p.Val70Ile) c.272-264G>A (n.272-264G>A) c.*252G>A (n.*252G>A) c.343G>A (p.Val115Ile) | gnomAD v4 |
| 7 | g.151186924A= | CA1752545631 | ASB10 | c.207T= (p.Cys69=) c.272-265T= (n.272-265T=) c.*251T= (n.*251T=) c.342T= (p.Cys114=) | |
| 7 | g.151186924A>C | CA370037543 | ASB10 | c.207T>G (p.Cys69Trp) c.272-265T>G (n.272-265T>G) c.*251T>G (n.*251T>G) c.342T>G (p.Cys114Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151186924A>G | CA458881531 | ASB10 | c.207T>C (p.Cys69=) c.272-265T>C (n.272-265T>C) c.*251T>C (n.*251T>C) c.342T>C (p.Cys114=) | |
| 7 | g.151186924A>T | CA370037544 | ASB10 | c.207T>A (p.Cys69Ter) c.272-265T>A (n.272-265T>A) c.*251T>A (n.*251T>A) c.342T>A (p.Cys114Ter) | |
| 7 | g.151186925C>A | CA370037546 | ASB10 | c.206G>T (p.Cys69Phe) c.272-266G>T (n.272-266G>T) c.*250G>T (n.*250G>T) c.341G>T (p.Cys114Phe) | |
| 7 | g.151186925C= | CA1752545633 | ASB10 | c.206G= (p.Cys69=) c.272-266G= (n.272-266G=) c.*250G= (n.*250G=) c.341G= (p.Cys114=) | |
| 7 | g.151186925C>G | CA370037548 | ASB10 | c.206G>C (p.Cys69Ser) c.272-266G>C (n.272-266G>C) c.*250G>C (n.*250G>C) c.341G>C (p.Cys114Ser) | |
| 7 | g.151186925C>T | CA370037549 | ASB10 | c.206G>A (p.Cys69Tyr) c.272-266G>A (n.272-266G>A) c.*250G>A (n.*250G>A) c.341G>A (p.Cys114Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186926A= | CA1752545636 | ASB10 | c.205T= (p.Cys69=) c.272-267T= (n.272-267T=) c.*249T= (n.*249T=) c.340T= (p.Cys114=) | |
| 7 | g.151186926A>C | CA370037550 | ASB10 | c.205T>G (p.Cys69Gly) c.272-267T>G (n.272-267T>G) c.*249T>G (n.*249T>G) c.340T>G (p.Cys114Gly) | |
| 7 | g.151186926A>G | CA370037552 | ASB10 | c.205T>C (p.Cys69Arg) c.272-267T>C (n.272-267T>C) c.*249T>C (n.*249T>C) c.340T>C (p.Cys114Arg) | |
| 7 | g.151186926A>T | CA370037553 | ASB10 | c.205T>A (p.Cys69Ser) c.272-267T>A (n.272-267T>A) c.*249T>A (n.*249T>A) c.340T>A (p.Cys114Ser) | |
| 7 | g.151186927G>A | CA458881535 | ASB10 | c.204C>T (p.Gly68=) c.272-268C>T (n.272-268C>T) c.*248C>T (n.*248C>T) c.339C>T (p.Gly113=) | gnomAD v4 |
| 7 | g.151186927G>C | CA150524 | ASB10 | c.204C>G (p.Gly68=) c.272-268C>G (n.272-268C>G) c.*248C>G (n.*248C>G) c.339C>G (p.Gly113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186927G= | CA1752545643 | ASB10 | c.204C= (p.Gly68=) c.272-268C= (n.272-268C=) c.*248C= (n.*248C=) c.339C= (p.Gly113=) | |
| 7 | g.151186927G>T | CA458881536 | ASB10 | c.204C>A (p.Gly68=) c.272-268C>A (n.272-268C>A) c.*248C>A (n.*248C>A) c.339C>A (p.Gly113=) | gnomAD v3 gnomAD v4 |
| 7 | g.151186927_151186928insGG | CA169125877 | ASB10 | c.204_205insCC (p.Cys69ProfsTer?) c.272-268_272-267insCC (n.272-268_272-267insCC) c.*248_*249insCC (n.*248_*249insCC) c.339_340insCC (p.Cys114ProfsTer?) | dbSNP |
| 7 | g.151186928C>A | CA370037557 | ASB10 | c.203G>T (p.Gly68Val) c.272-269G>T (n.272-269G>T) c.*247G>T (n.*247G>T) c.338G>T (p.Gly113Val) | |
| 7 | g.151186928C= | CA1752545653 | ASB10 | c.203G= (p.Gly68=) c.272-269G= (n.272-269G=) c.*247G= (n.*247G=) c.338G= (p.Gly113=) | |
| 7 | g.151186928C>G | CA4573967 | ASB10 | c.203G>C (p.Gly68Ala) c.272-269G>C (n.272-269G>C) c.*247G>C (n.*247G>C) c.338G>C (p.Gly113Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |