Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.46725379_46725868delinsC | CA2697547414 | SLC2A10 | c.343_832delinsC (p.Ser115_Ala278delinsPro) c.406_895delinsC (p.Ser136_Ala299delinsPro) c.352_841delinsC (p.Ser118_Ala281delinsPro) n.542_1031delinsC n.529_1018delinsC | ClinVar |
20 | g.46725666C>A | CA510847777 | SLC2A10 | c.630C>A (p.Gly210=) c.693C>A (p.Gly231=) c.639C>A (p.Gly213=) n.829C>A n.816C>A | |
20 | g.46725666C= | CA2366796306 | SLC2A10 | c.630C= (p.Gly210=) c.693C= (p.Gly231=) c.639C= (p.Gly213=) n.829C= n.816C= | |
20 | g.46725666C>G | CA510847778 | SLC2A10 | c.630C>G (p.Gly210=) c.693C>G (p.Gly231=) c.639C>G (p.Gly213=) n.829C>G n.816C>G | |
20 | g.46725666C>T | CA9892011 | SLC2A10 | c.630C>T (p.Gly210=) c.693C>T (p.Gly231=) c.639C>T (p.Gly213=) n.829C>T n.816C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725667C>A | CA409267509 | SLC2A10 | c.631C>A (p.Pro211Thr) c.694C>A (p.Pro232Thr) c.640C>A (p.Pro214Thr) n.830C>A n.817C>A | |
20 | g.46725667C>G | CA409267511 | SLC2A10 | c.631C>G (p.Pro211Ala) c.694C>G (p.Pro232Ala) c.640C>G (p.Pro214Ala) n.830C>G n.817C>G | |
20 | g.46725667C>T | CA409267514 | SLC2A10 | c.631C>T (p.Pro211Ser) c.694C>T (p.Pro232Ser) c.640C>T (p.Pro214Ser) n.830C>T n.817C>T | |
20 | g.46725668C>A | CA409267517 | SLC2A10 | c.632C>A (p.Pro211Gln) c.695C>A (p.Pro232Gln) c.641C>A (p.Pro214Gln) n.831C>A n.818C>A | |
20 | g.46725668C= | CA2366796307 | SLC2A10 | c.632C= (p.Pro211=) c.695C= (p.Pro232=) c.641C= (p.Pro214=) n.831C= n.818C= | |
20 | g.46725668C>G | CA9892012 | SLC2A10 | c.632C>G (p.Pro211Arg) c.695C>G (p.Pro232Arg) c.641C>G (p.Pro214Arg) n.831C>G n.818C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725668C>T | CA9892013 | SLC2A10 | c.632C>T (p.Pro211Leu) c.695C>T (p.Pro232Leu) c.641C>T (p.Pro214Leu) n.831C>T n.818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725669G>A | CA9892014 | SLC2A10 | c.633G>A (p.Pro211=) c.696G>A (p.Pro232=) c.642G>A (p.Pro214=) n.832G>A n.819G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725669G>C | CA510847779 | SLC2A10 | c.633G>C (p.Pro211=) c.696G>C (p.Pro232=) c.642G>C (p.Pro214=) n.832G>C n.819G>C | |
20 | g.46725669G= | CA2366796308 | SLC2A10 | c.633G= (p.Pro211=) c.696G= (p.Pro232=) c.642G= (p.Pro214=) n.832G= n.819G= | |
20 | g.46725669G>T | CA510847780 | SLC2A10 | c.633G>T (p.Pro211=) c.696G>T (p.Pro232=) c.642G>T (p.Pro214=) n.832G>T n.819G>T | gnomAD v4 |
20 | g.46725672del | CA2653170995 | SLC2A10 | c.636del (p.Arg213GlyfsTer?) c.699del (p.Arg234GlyfsTer?) c.645del (p.Arg216GlyfsTer?) n.835del n.822del | gnomAD v4 |
20 | g.46725670G>A | CA409267523 | SLC2A10 | c.634G>A (p.Gly212Arg) c.697G>A (p.Gly233Arg) c.643G>A (p.Gly215Arg) n.833G>A n.820G>A | gnomAD v4 |
20 | g.46725670G>C | CA409267526 | SLC2A10 | c.634G>C (p.Gly212Arg) c.697G>C (p.Gly233Arg) c.643G>C (p.Gly215Arg) n.833G>C n.820G>C | |
20 | g.46725670G>T | CA409267528 | SLC2A10 | c.634G>T (p.Gly212Trp) c.697G>T (p.Gly233Trp) c.643G>T (p.Gly215Trp) n.833G>T n.820G>T | |
20 | g.46725671G>A | CA409267531 | SLC2A10 | c.635G>A (p.Gly212Glu) c.698G>A (p.Gly233Glu) c.644G>A (p.Gly215Glu) n.834G>A n.821G>A | gnomAD v4 |
20 | g.46725671G>C | CA322344 | SLC2A10 | c.635G>C (p.Gly212Ala) c.698G>C (p.Gly233Ala) c.644G>C (p.Gly215Ala) n.834G>C n.821G>C | ClinVar dbSNP |
20 | g.46725671G= | CA2366796309 | SLC2A10 | c.635G= (p.Gly212=) c.698G= (p.Gly233=) c.644G= (p.Gly215=) n.834G= n.821G= | |
20 | g.46725671G>T | CA409267533 | SLC2A10 | c.635G>T (p.Gly212Val) c.698G>T (p.Gly233Val) c.644G>T (p.Gly215Val) n.834G>T n.821G>T | |
20 | g.46725672G>A | CA510847781 | SLC2A10 | c.636G>A (p.Gly212=) c.699G>A (p.Gly233=) c.645G>A (p.Gly215=) n.835G>A n.822G>A | COSMIC |
20 | g.46725672G>C | CA510847782 | SLC2A10 | c.636G>C (p.Gly212=) c.699G>C (p.Gly233=) c.645G>C (p.Gly215=) n.835G>C n.822G>C | |
20 | g.46725672G>T | CA510847783 | SLC2A10 | c.636G>T (p.Gly212=) c.699G>T (p.Gly233=) c.645G>T (p.Gly215=) n.835G>T n.822G>T | gnomAD v4 |
20 | g.46725672_46725684del | CA2697547415 | SLC2A10 | c.636_648del (p.Arg213ProfsTer28) c.699_711del (p.Arg234ProfsTer28) c.645_657del (p.Arg216ProfsTer28) n.835_847del n.822_834del | ClinVar |
20 | g.46725673A>C | CA510847784 | SLC2A10 | c.637A>C (p.Arg213=) c.700A>C (p.Arg234=) c.646A>C (p.Arg216=) n.836A>C n.823A>C | |
20 | g.46725673A>G | CA409267537 | SLC2A10 | c.637A>G (p.Arg213Gly) c.700A>G (p.Arg234Gly) c.646A>G (p.Arg216Gly) n.836A>G n.823A>G | |
20 | g.46725673A>T | CA409267539 | SLC2A10 | c.637A>T (p.Arg213Trp) c.700A>T (p.Arg234Trp) c.646A>T (p.Arg216Trp) n.836A>T n.823A>T | |
20 | g.46725674G>A | CA409267542 | SLC2A10 | c.638G>A (p.Arg213Lys) c.701G>A (p.Arg234Lys) c.647G>A (p.Arg216Lys) n.837G>A n.824G>A | gnomAD v4 COSMIC |
20 | g.46725674G>C | CA409267544 | SLC2A10 | c.638G>C (p.Arg213Thr) c.701G>C (p.Arg234Thr) c.647G>C (p.Arg216Thr) n.837G>C n.824G>C | |
20 | g.46725674G>T | CA409267546 | SLC2A10 | c.638G>T (p.Arg213Met) c.701G>T (p.Arg234Met) c.647G>T (p.Arg216Met) n.837G>T n.824G>T | |
20 | g.46725675G>A | CA510847785 | SLC2A10 | c.639G>A (p.Arg213=) c.702G>A (p.Arg234=) c.648G>A (p.Arg216=) n.838G>A n.825G>A | ClinVar |
20 | g.46725675G>C | CA409267549 | SLC2A10 | c.639G>C (p.Arg213Ser) c.702G>C (p.Arg234Ser) c.648G>C (p.Arg216Ser) n.838G>C n.825G>C | |
20 | g.46725675G>T | CA409267551 | SLC2A10 | c.639G>T (p.Arg213Ser) c.702G>T (p.Arg234Ser) c.648G>T (p.Arg216Ser) n.838G>T n.825G>T | COSMIC |
20 | g.46725676C>A | CA409267554 | SLC2A10 | c.640C>A (p.Pro214Thr) c.703C>A (p.Pro235Thr) c.649C>A (p.Pro217Thr) n.839C>A n.826C>A | gnomAD v4 |
20 | g.46725676C>G | CA409267555 | SLC2A10 | c.640C>G (p.Pro214Ala) c.703C>G (p.Pro235Ala) c.649C>G (p.Pro217Ala) n.839C>G n.826C>G | |
20 | g.46725676C>T | CA409267558 | SLC2A10 | c.640C>T (p.Pro214Ser) c.703C>T (p.Pro235Ser) c.649C>T (p.Pro217Ser) n.839C>T n.826C>T | |
20 | g.46725677C>A | CA409267559 | SLC2A10 | c.641C>A (p.Pro214Gln) c.704C>A (p.Pro235Gln) c.650C>A (p.Pro217Gln) n.840C>A n.827C>A | |
20 | g.46725677C= | CA2366796310 | SLC2A10 | c.641C= (p.Pro214=) c.704C= (p.Pro235=) c.650C= (p.Pro217=) n.840C= n.827C= | |
20 | g.46725677C>G | CA409267561 | SLC2A10 | c.641C>G (p.Pro214Arg) c.704C>G (p.Pro235Arg) c.650C>G (p.Pro217Arg) n.840C>G n.827C>G | |
20 | g.46725677C>T | CA409267564 | SLC2A10 | c.641C>T (p.Pro214Leu) c.704C>T (p.Pro235Leu) c.650C>T (p.Pro217Leu) n.840C>T n.827C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725678A>C | CA510847786 | SLC2A10 | c.642A>C (p.Pro214=) c.705A>C (p.Pro235=) c.651A>C (p.Pro217=) n.841A>C n.828A>C | |
20 | g.46725678A>G | CA510847787 | SLC2A10 | c.642A>G (p.Pro214=) c.705A>G (p.Pro235=) c.651A>G (p.Pro217=) n.841A>G n.828A>G | |
20 | g.46725678A>T | CA510847788 | SLC2A10 | c.642A>T (p.Pro214=) c.705A>T (p.Pro235=) c.651A>T (p.Pro217=) n.841A>T n.828A>T | |
20 | g.46725679C>A | CA510847789 | SLC2A10 | c.643C>A (p.Arg215=) c.706C>A (p.Arg236=) c.652C>A (p.Arg218=) n.842C>A n.829C>A | |
20 | g.46725679C= | CA2366796311 | SLC2A10 | c.643C= (p.Arg215=) c.706C= (p.Arg236=) c.652C= (p.Arg218=) n.842C= n.829C= | |
20 | g.46725679C>G | CA409267566 | SLC2A10 | c.643C>G (p.Arg215Gly) c.706C>G (p.Arg236Gly) c.652C>G (p.Arg218Gly) n.842C>G n.829C>G | gnomAD v4 |