Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.59697625G>A | CA501331449 | PTRH2 | c.354C>T (p.Val118=) c.357C>T (p.Val119=) n.45+9746C>T | |
17 | g.59697625G>C | CA501331450 | PTRH2 | c.354C>G (p.Val118=) c.357C>G (p.Val119=) n.45+9746C>G | |
17 | g.59697625G>T | CA501331451 | PTRH2 | c.354C>A (p.Val118=) c.357C>A (p.Val119=) n.45+9746C>A | |
17 | g.59697626A>C | CA400429207 | PTRH2 | c.353T>G (p.Val118Gly) c.356T>G (p.Val119Gly) n.45+9745T>G | |
17 | g.59697626A>G | CA400429208 | PTRH2 | c.353T>C (p.Val118Ala) c.356T>C (p.Val119Ala) n.45+9745T>C | |
17 | g.59697626A>T | CA400429209 | PTRH2 | c.353T>A (p.Val118Asp) c.356T>A (p.Val119Asp) n.45+9745T>A | |
17 | g.59697627C>A | CA400429210 | PTRH2 | c.352G>T (p.Val118Phe) c.355G>T (p.Val119Phe) n.45+9744G>T | |
17 | g.59697627C>G | CA400429211 | PTRH2 | c.352G>C (p.Val118Leu) c.355G>C (p.Val119Leu) n.45+9744G>C | |
17 | g.59697627C>T | CA400429212 | PTRH2 | c.352G>A (p.Val118Ile) c.355G>A (p.Val119Ile) n.45+9744G>A | |
17 | g.59697628del | CA2639061187 | PTRH2 | c.352del (p.Val118SerfsTer9) c.355del (p.Val119SerfsTer9) n.45+9744del | gnomAD v4 |
17 | g.59697628C>A | CA501331452 | PTRH2 | c.351G>T (p.Val117=) c.354G>T (p.Val118=) n.45+9743G>T | |
17 | g.59697628C= | CA2268261709 | PTRH2 | c.351G= (p.Val117=) c.354G= (p.Val118=) n.45+9743G= | |
17 | g.59697628C>G | CA501331453 | PTRH2 | c.351G>C (p.Val117=) c.354G>C (p.Val118=) n.45+9743G>C | |
17 | g.59697628C>T | CA501331454 | PTRH2 | c.351G>A (p.Val117=) c.354G>A (p.Val118=) n.45+9743G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.59697629A>C | CA400429214 | PTRH2 | c.350T>G (p.Val117Gly) c.353T>G (p.Val118Gly) n.45+9742T>G | |
17 | g.59697629A>G | CA400429216 | PTRH2 | c.350T>C (p.Val117Ala) c.353T>C (p.Val118Ala) n.45+9742T>C | |
17 | g.59697629A>T | CA400429218 | PTRH2 | c.350T>A (p.Val117Glu) c.353T>A (p.Val118Glu) n.45+9742T>A | |
17 | g.59697630C>A | CA400429220 | PTRH2 | c.349G>T (p.Val117Leu) c.352G>T (p.Val118Leu) n.45+9741G>T | |
17 | g.59697630C= | CA2268261712 | PTRH2 | c.349G= (p.Val117=) c.352G= (p.Val118=) n.45+9741G= | |
17 | g.59697630C>G | CA292127126 | PTRH2 | c.349G>C (p.Val117Leu) c.352G>C (p.Val118Leu) n.45+9741G>C | dbSNP |
17 | g.59697630C>T | CA400429223 | PTRH2 | c.349G>A (p.Val117Met) c.352G>A (p.Val118Met) n.45+9741G>A | |
17 | g.59697631C>A | CA501331457 | PTRH2 | c.348G>T (p.Val116=) c.351G>T (p.Val117=) n.45+9740G>T | |
17 | g.59697631C>G | CA501331458 | PTRH2 | c.348G>C (p.Val116=) c.351G>C (p.Val117=) n.45+9740G>C | |
17 | g.59697631C>T | CA501331459 | PTRH2 | c.348G>A (p.Val116=) c.351G>A (p.Val117=) n.45+9740G>A | |
17 | g.59697632A>C | CA400429229 | PTRH2 | c.347T>G (p.Val116Gly) c.350T>G (p.Val117Gly) n.45+9739T>G | |
17 | g.59697632A>G | CA400429225 | PTRH2 | c.347T>C (p.Val116Ala) c.350T>C (p.Val117Ala) n.45+9739T>C | |
17 | g.59697632A>T | CA400429227 | PTRH2 | c.347T>A (p.Val116Glu) c.350T>A (p.Val117Glu) n.45+9739T>A | |
17 | g.59697633C>A | CA400429231 | PTRH2 | c.346G>T (p.Val116Leu) c.349G>T (p.Val117Leu) n.45+9738G>T | |
17 | g.59697633C>G | CA400429233 | PTRH2 | c.346G>C (p.Val116Leu) c.349G>C (p.Val117Leu) n.45+9738G>C | |
17 | g.59697633C>T | CA400429235 | PTRH2 | c.346G>A (p.Val116Met) c.349G>A (p.Val117Met) n.45+9738G>A | gnomAD v4 |
17 | g.59697634C>A | CA400429238 | PTRH2 | c.345G>T (p.Lys115Asn) c.348G>T (p.Lys116Asn) n.45+9737G>T | |
17 | g.59697634C>G | CA400429240 | PTRH2 | c.345G>C (p.Lys115Asn) c.348G>C (p.Lys116Asn) n.45+9737G>C | |
17 | g.59697634C>T | CA501331462 | PTRH2 | c.345G>A (p.Lys115=) c.348G>A (p.Lys116=) n.45+9737G>A | |
17 | g.59697635T>A | CA400429246 | PTRH2 | c.344A>T (p.Lys115Met) c.347A>T (p.Lys116Met) n.45+9736A>T | |
17 | g.59697635T>C | CA400429248 | PTRH2 | c.344A>G (p.Lys115Arg) c.347A>G (p.Lys116Arg) n.45+9736A>G | |
17 | g.59697635T>G | CA400429250 | PTRH2 | c.344A>C (p.Lys115Thr) c.347A>C (p.Lys116Thr) n.45+9736A>C | gnomAD v4 |
17 | g.59697636T>A | CA400429253 | PTRH2 | c.343A>T (p.Lys115Ter) c.346A>T (p.Lys116Ter) n.45+9735A>T | |
17 | g.59697636T>C | CA400429254 | PTRH2 | c.343A>G (p.Lys115Glu) c.346A>G (p.Lys116Glu) n.45+9735A>G | |
17 | g.59697636T>G | CA400429256 | PTRH2 | c.343A>C (p.Lys115Gln) c.346A>C (p.Lys116Gln) n.45+9735A>C | |
17 | g.59697637G>A | CA501331471 | PTRH2 | c.342C>T (p.Pro114=) c.345C>T (p.Pro115=) n.45+9734C>T | |
17 | g.59697637G>C | CA501331472 | PTRH2 | c.342C>G (p.Pro114=) c.345C>G (p.Pro115=) n.45+9734C>G | gnomAD v4 |
17 | g.59697637G>T | CA501331473 | PTRH2 | c.342C>A (p.Pro114=) c.345C>A (p.Pro115=) n.45+9734C>A | |
17 | g.59697638G>A | CA400429260 | PTRH2 | c.341C>T (p.Pro114Leu) c.344C>T (p.Pro115Leu) n.45+9733C>T | |
17 | g.59697638G>C | CA400429259 | PTRH2 | c.341C>G (p.Pro114Arg) c.344C>G (p.Pro115Arg) n.45+9733C>G | |
17 | g.59697638G>T | CA400429258 | PTRH2 | c.341C>A (p.Pro114His) c.344C>A (p.Pro115His) n.45+9733C>A | |
17 | g.59697639G>A | CA8681915 | PTRH2 | c.340C>T (p.Pro114Ser) c.343C>T (p.Pro115Ser) n.45+9732C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.59697639G>C | CA8681914 | PTRH2 | c.340C>G (p.Pro114Ala) c.343C>G (p.Pro115Ala) n.45+9732C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.59697639G= | CA2268261715 | PTRH2 | c.340C= (p.Pro114=) c.343C= (p.Pro115=) n.45+9732C= | |
17 | g.59697639G>T | CA400429265 | PTRH2 | c.340C>A (p.Pro114Thr) c.343C>A (p.Pro115Thr) n.45+9732C>A | |
17 | g.59697640C>A | CA400429272 | PTRH2 | c.339G>T (p.Gln113His) c.342G>T (p.Gln114His) n.45+9731G>T |