Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215798956A>C | CA344848573 | USH2A | c.9909T>G (p.Asp3303Glu) | |
1 | g.215798956A>G | CA423430235 | USH2A | c.9909T>C (p.Asp3303=) | |
1 | g.215798956A>T | CA344848578 | USH2A | c.9909T>A (p.Asp3303Glu) | |
1 | g.215798957T>A | CA344848591 | USH2A | c.9908A>T (p.Asp3303Val) | |
1 | g.215798957T>C | CA344848588 | USH2A | c.9908A>G (p.Asp3303Gly) | |
1 | g.215798957T>G | CA344848585 | USH2A | c.9908A>C (p.Asp3303Ala) | |
1 | g.215798958C>A | CA344848597 | USH2A | c.9907G>T (p.Asp3303Tyr) | |
1 | g.215798958C= | CA1220426011 | USH2A | c.9907G= (p.Asp3303=) | |
1 | g.215798958C>G | CA344848601 | USH2A | c.9907G>C (p.Asp3303His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798958C>T | CA344848605 | USH2A | c.9907G>A (p.Asp3303Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.215798959G>A | CA1394184 | USH2A | c.9906C>T (p.Asn3302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798959G>C | CA344848618 | USH2A | c.9906C>G (p.Asn3302Lys) | |
1 | g.215798959G= | CA1220426014 | USH2A | c.9906C= (p.Asn3302=) | |
1 | g.215798959G>T | CA344848623 | USH2A | c.9906C>A (p.Asn3302Lys) | |
1 | g.215798960T>A | CA344848636 | USH2A | c.9905A>T (p.Asn3302Ile) | |
1 | g.215798960T>C | CA344848628 | USH2A | c.9905A>G (p.Asn3302Ser) | |
1 | g.215798960T>G | CA344848633 | USH2A | c.9905A>C (p.Asn3302Thr) | |
1 | g.215798961T>A | CA344848642 | USH2A | c.9904A>T (p.Asn3302Tyr) | |
1 | g.215798961T>C | CA1394185 | USH2A | c.9904A>G (p.Asn3302Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798961T>G | CA344848655 | USH2A | c.9904A>C (p.Asn3302His) | |
1 | g.215798961T= | CA1145050973 | USH2A | c.9904A= (p.Asn3302=) | |
1 | g.215798962G>A | CA423430239 | USH2A | c.9903C>T (p.Ser3301=) | |
1 | g.215798962G>C | CA344848667 | USH2A | c.9903C>G (p.Ser3301Arg) | gnomAD v4 |
1 | g.215798962G>T | CA344848668 | USH2A | c.9903C>A (p.Ser3301Arg) | gnomAD v4 |
1 | g.215798963C>A | CA344848674 | USH2A | c.9902G>T (p.Ser3301Ile) | |
1 | g.215798963C>G | CA344848679 | USH2A | c.9902G>C (p.Ser3301Thr) | |
1 | g.215798963C>T | CA344848678 | USH2A | c.9902G>A (p.Ser3301Asn) | |
1 | g.215798964T>A | CA344848691 | USH2A | c.9901A>T (p.Ser3301Cys) | |
1 | g.215798964T>C | CA344848696 | USH2A | c.9901A>G (p.Ser3301Gly) | |
1 | g.215798964T>G | CA344848698 | USH2A | c.9901A>C (p.Ser3301Arg) | |
1 | g.215798965C>A | CA423430240 | USH2A | c.9900G>T (p.Val3300=) | |
1 | g.215798965C>G | CA423430241 | USH2A | c.9900G>C (p.Val3300=) | |
1 | g.215798965C>T | CA423430242 | USH2A | c.9900G>A (p.Val3300=) | ClinVar dbSNP |
1 | g.215798967_215798968del | CA2650503219 | USH2A | c.9899_9900del (p.Val3300GlufsTer?) | gnomAD v4 |
1 | g.215798966A>C | CA344848704 | USH2A | c.9899T>G (p.Val3300Gly) | |
1 | g.215798966A>G | CA344848707 | USH2A | c.9899T>C (p.Val3300Ala) | |
1 | g.215798966A>T | CA344848710 | USH2A | c.9899T>A (p.Val3300Glu) | |
1 | g.215798967C>A | CA344848713 | USH2A | c.9898G>T (p.Val3300Leu) | COSMIC COSMIC |
1 | g.215798967C= | CA1220426025 | USH2A | c.9898G= (p.Val3300=) | |
1 | g.215798967C>G | CA344848715 | USH2A | c.9898G>C (p.Val3300Leu) | |
1 | g.215798967C>T | CA344848718 | USH2A | c.9898G>A (p.Val3300Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798968A= | CA1148255721 | USH2A | c.9897T= (p.Ile3299=) | |
1 | g.215798968A>C | CA344848720 | USH2A | c.9897T>G (p.Ile3299Met) | |
1 | g.215798968A>G | CA423430247 | USH2A | c.9897T>C (p.Ile3299=) | ClinVar dbSNP gnomAD v4 |
1 | g.215798968A>T | CA1394186 | USH2A | c.9897T>A (p.Ile3299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798969A= | CA1220426031 | USH2A | c.9896T= (p.Ile3299=) | |
1 | g.215798969A>C | CA344848739 | USH2A | c.9896T>G (p.Ile3299Ser) | |
1 | g.215798969A>G | CA344848729 | USH2A | c.9896T>C (p.Ile3299Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798969A>T | CA344848727 | USH2A | c.9896T>A (p.Ile3299Asn) | |
1 | g.215798970T>A | CA344848742 | USH2A | c.9895A>T (p.Ile3299Phe) | dbSNP gnomAD v4 |