Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.74920173C>A | CA400964034 | USH1G | c.663G>T (p.Glu221Asp) c.*262G>T (n.*262G>T) c.354G>T (p.Glu118Asp) | |
17 | g.74920173C>G | CA400964035 | USH1G | c.663G>C (p.Glu221Asp) c.*262G>C (n.*262G>C) c.354G>C (p.Glu118Asp) | |
17 | g.74920173C>T | CA502036683 | USH1G | c.663G>A (p.Glu221=) c.*262G>A (n.*262G>A) c.354G>A (p.Glu118=) | gnomAD v4 |
17 | g.74920174T>A | CA400964037 | USH1G | c.662A>T (p.Glu221Val) c.*261A>T (n.*261A>T) c.353A>T (p.Glu118Val) | |
17 | g.74920174T>C | CA400964039 | USH1G | c.662A>G (p.Glu221Gly) c.*261A>G (n.*261A>G) c.353A>G (p.Glu118Gly) | gnomAD v4 |
17 | g.74920174T>G | CA400964043 | USH1G | c.662A>C (p.Glu221Ala) c.*261A>C (n.*261A>C) c.353A>C (p.Glu118Ala) | |
17 | g.74920175C>A | CA400964056 | USH1G | c.661G>T (p.Glu221Ter) c.*260G>T (n.*260G>T) c.352G>T (p.Glu118Ter) | |
17 | g.74920175C= | CA2275255477 | USH1G | c.661G= (p.Glu221=) c.*260G= (n.*260G=) c.352G= (p.Glu118=) | |
17 | g.74920175C>G | CA400964050 | USH1G | c.661G>C (p.Glu221Gln) c.*260G>C (n.*260G>C) c.352G>C (p.Glu118Gln) | dbSNP |
17 | g.74920175C>T | CA400964052 | USH1G | c.661G>A (p.Glu221Lys) c.*260G>A (n.*260G>A) c.352G>A (p.Glu118Lys) | |
17 | g.74920176C>A | CA502036690 | USH1G | c.660G>T (p.Leu220=) c.*259G>T (n.*259G>T) c.351G>T (p.Leu117=) | |
17 | g.74920176C= | CA2275255478 | USH1G | c.660G= (p.Leu220=) c.*259G= (n.*259G=) c.351G= (p.Leu117=) | |
17 | g.74920176C>G | CA502036691 | USH1G | c.660G>C (p.Leu220=) c.*259G>C (n.*259G>C) c.351G>C (p.Leu117=) | |
17 | g.74920176C>T | CA502036692 | USH1G | c.660G>A (p.Leu220=) c.*259G>A (n.*259G>A) c.351G>A (p.Leu117=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74920177A>C | CA400964060 | USH1G | c.659T>G (p.Leu220Arg) c.*258T>G (n.*258T>G) c.350T>G (p.Leu117Arg) | |
17 | g.74920177A>G | CA400964063 | USH1G | c.659T>C (p.Leu220Pro) c.*258T>C (n.*258T>C) c.350T>C (p.Leu117Pro) | gnomAD v4 |
17 | g.74920177A>T | CA400964066 | USH1G | c.659T>A (p.Leu220Gln) c.*258T>A (n.*258T>A) c.350T>A (p.Leu117Gln) | |
17 | g.74920178G>A | CA502036697 | USH1G | c.658C>T (p.Leu220=) c.*257C>T (n.*257C>T) c.349C>T (p.Leu117=) | gnomAD v4 |
17 | g.74920178G>C | CA400964068 | USH1G | c.658C>G (p.Leu220Val) c.*257C>G (n.*257C>G) c.349C>G (p.Leu117Val) | |
17 | g.74920178G>T | CA400964069 | USH1G | c.658C>A (p.Leu220Met) c.*257C>A (n.*257C>A) c.349C>A (p.Leu117Met) | gnomAD v4 |
17 | g.74920178_74920181delinsGCTT | CA2275255479 | USH1G | c.655_658delinsAAGC (p.Lys219=) c.*254_*257delinsAAGC (n.*254_*257delinsAAGC) c.346_349delinsAAGC (p.Lys116=) | |
17 | g.74920179C>A | CA400964073 | USH1G | c.657G>T (p.Lys219Asn) c.*256G>T (n.*256G>T) c.348G>T (p.Lys116Asn) | gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74920179C>G | CA400964076 | USH1G | c.657G>C (p.Lys219Asn) c.*256G>C (n.*256G>C) c.348G>C (p.Lys116Asn) | |
17 | g.74920179C>T | CA502036698 | USH1G | c.657G>A (p.Lys219=) c.*256G>A (n.*256G>A) c.348G>A (p.Lys116=) | |
17 | g.74920184_74920186del | CA8754026 | USH1G | c.655_657del (p.Lys219del) c.*254_*256del (n.*254_*256del) c.346_348del (p.Lys116del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74920180T>A | CA400964081 | USH1G | c.656A>T (p.Lys219Met) c.*255A>T (n.*255A>T) c.347A>T (p.Lys116Met) | |
17 | g.74920180T>C | CA400964083 | USH1G | c.656A>G (p.Lys219Arg) c.*255A>G (n.*255A>G) c.347A>G (p.Lys116Arg) | |
17 | g.74920180T>G | CA400964087 | USH1G | c.656A>C (p.Lys219Thr) c.*255A>C (n.*255A>C) c.347A>C (p.Lys116Thr) | dbSNP |
17 | g.74920180T= | CA2275255480 | USH1G | c.656A= (p.Lys219=) c.*255A= (n.*255A=) c.347A= (p.Lys116=) | |
17 | g.74920181T>A | CA400964090 | USH1G | c.655A>T (p.Lys219Ter) c.*254A>T (n.*254A>T) c.346A>T (p.Lys116Ter) | dbSNP |
17 | g.74920181T>C | CA400964093 | USH1G | c.655A>G (p.Lys219Glu) c.*254A>G (n.*254A>G) c.346A>G (p.Lys116Glu) | |
17 | g.74920181T>G | CA8754027 | USH1G | c.655A>C (p.Lys219Gln) c.*254A>C (n.*254A>C) c.346A>C (p.Lys116Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.74920181T= | CA2275255481 | USH1G | c.655A= (p.Lys219=) c.*254A= (n.*254A=) c.346A= (p.Lys116=) | |
17 | g.74920182C>A | CA8754028 | USH1G | c.654G>T (p.Lys218Asn) c.*253G>T (n.*253G>T) c.345G>T (p.Lys115Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74920182C= | CA2275255482 | USH1G | c.654G= (p.Lys218=) c.*253G= (n.*253G=) c.345G= (p.Lys115=) | |
17 | g.74920182C>G | CA400964100 | USH1G | c.654G>C (p.Lys218Asn) c.*253G>C (n.*253G>C) c.345G>C (p.Lys115Asn) | |
17 | g.74920182C>T | CA502036703 | USH1G | c.654G>A (p.Lys218=) c.*253G>A (n.*253G>A) c.345G>A (p.Lys115=) | |
17 | g.74920183T>A | CA400964103 | USH1G | c.653A>T (p.Lys218Met) c.*252A>T (n.*252A>T) c.344A>T (p.Lys115Met) | |
17 | g.74920183T>C | CA400964105 | USH1G | c.653A>G (p.Lys218Arg) c.*252A>G (n.*252A>G) c.344A>G (p.Lys115Arg) | |
17 | g.74920183T>G | CA400964108 | USH1G | c.653A>C (p.Lys218Thr) c.*252A>C (n.*252A>C) c.344A>C (p.Lys115Thr) | |
17 | g.74920184T>A | CA400964116 | USH1G | c.652A>T (p.Lys218Ter) c.*251A>T (n.*251A>T) c.343A>T (p.Lys115Ter) | |
17 | g.74920184T>C | CA400964113 | USH1G | c.652A>G (p.Lys218Glu) c.*251A>G (n.*251A>G) c.343A>G (p.Lys115Glu) | |
17 | g.74920184T>G | CA400964111 | USH1G | c.652A>C (p.Lys218Gln) c.*251A>C (n.*251A>C) c.343A>C (p.Lys115Gln) | |
17 | g.74920185C>A | CA400964119 | USH1G | c.651G>T (p.Gln217His) c.*250G>T (n.*250G>T) c.342G>T (p.Gln114His) | gnomAD v4 |
17 | g.74920185C= | CA2275255483 | USH1G | c.651G= (p.Gln217=) c.*250G= (n.*250G=) c.342G= (p.Gln114=) | |
17 | g.74920185C>G | CA400964121 | USH1G | c.651G>C (p.Gln217His) c.*250G>C (n.*250G>C) c.342G>C (p.Gln114His) | |
17 | g.74920185C>T | CA502036708 | USH1G | c.651G>A (p.Gln217=) c.*250G>A (n.*250G>A) c.342G>A (p.Gln114=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.74920186T>A | CA400964123 | USH1G | c.650A>T (p.Gln217Leu) c.*249A>T (n.*249A>T) c.341A>T (p.Gln114Leu) | |
17 | g.74920186T>C | CA8754029 | USH1G | c.650A>G (p.Gln217Arg) c.*249A>G (n.*249A>G) c.341A>G (p.Gln114Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.74920186T>G | CA400964126 | USH1G | c.650A>C (p.Gln217Pro) c.*249A>C (n.*249A>C) c.341A>C (p.Gln114Pro) | gnomAD v4 |