Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99428512C>A | CA357498596 | ADH7 | c.239G>T (p.Gly80Val) c.275G>T (p.Gly92Val) c.68G>T (p.Gly23Val) c.299G>T (p.Gly100Val) | gnomAD v4 |
4 | g.99428512C= | CA1480005262 | ADH7 | c.239G= (p.Gly80=) c.275G= (p.Gly92=) c.68G= (p.Gly23=) c.299G= (p.Gly100=) | |
4 | g.99428512C>G | CA3020900 | ADH7 | c.239G>C (p.Gly80Ala) c.275G>C (p.Gly92Ala) c.68G>C (p.Gly23Ala) c.299G>C (p.Gly100Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99428512C>T | CA357498597 | ADH7 | c.239G>A (p.Gly80Glu) c.275G>A (p.Gly92Glu) c.68G>A (p.Gly23Glu) c.299G>A (p.Gly100Glu) | |
4 | g.99428512_99428515delinsCCTT | CA1480005260 | ADH7 | c.236_239delinsAAGG (p.Glu79=) c.272_275delinsAAGG (p.Glu91=) c.65_68delinsAAGG (p.Glu22=) c.296_299delinsAAGG (p.Glu99=) | |
4 | g.99428513C>A | CA357498598 | ADH7 | c.238G>T (p.Gly80Ter) c.274G>T (p.Gly92Ter) c.67G>T (p.Gly23Ter) c.298G>T (p.Gly100Ter) | |
4 | g.99428513C= | CA1480005270 | ADH7 | c.238G= (p.Gly80=) c.274G= (p.Gly92=) c.67G= (p.Gly23=) c.298G= (p.Gly100=) | |
4 | g.99428513C>G | CA357498599 | ADH7 | c.238G>C (p.Gly80Arg) c.274G>C (p.Gly92Arg) c.67G>C (p.Gly23Arg) c.298G>C (p.Gly100Arg) | |
4 | g.99428513C>T | CA102654159 | ADH7 | c.238G>A (p.Gly80Arg) c.274G>A (p.Gly92Arg) c.67G>A (p.Gly23Arg) c.298G>A (p.Gly100Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.99428513_99428515delinsG | CA917262550 | ADH7 | c.236_238delinsC (p.Glu79AlafsTer9) c.272_274delinsC (p.Glu91AlafsTer9) c.65_67delinsC (p.Glu22AlafsTer9) c.296_298delinsC (p.Glu99AlafsTer9) | dbSNP |
4 | g.99428515_99428517del | CA3020901 | ADH7 | c.236_238del (p.Glu79del) c.272_274del (p.Glu91del) c.65_67del (p.Glu22del) c.296_298del (p.Glu99del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99428514T>A | CA357498600 | ADH7 | c.237A>T (p.Glu79Asp) c.273A>T (p.Glu91Asp) c.66A>T (p.Glu22Asp) c.297A>T (p.Glu99Asp) | |
4 | g.99428514T>C | CA440318611 | ADH7 | c.237A>G (p.Glu79=) c.273A>G (p.Glu91=) c.66A>G (p.Glu22=) c.297A>G (p.Glu99=) | |
4 | g.99428514T>G | CA357498601 | ADH7 | c.237A>C (p.Glu79Asp) c.273A>C (p.Glu91Asp) c.66A>C (p.Glu22Asp) c.297A>C (p.Glu99Asp) | |
4 | g.99428515T>A | CA357498602 | ADH7 | c.236A>T (p.Glu79Val) c.272A>T (p.Glu91Val) c.65A>T (p.Glu22Val) c.296A>T (p.Glu99Val) | |
4 | g.99428515T>C | CA357498603 | ADH7 | c.236A>G (p.Glu79Gly) c.272A>G (p.Glu91Gly) c.65A>G (p.Glu22Gly) c.296A>G (p.Glu99Gly) | |
4 | g.99428515T>G | CA357498604 | ADH7 | c.236A>C (p.Glu79Ala) c.272A>C (p.Glu91Ala) c.65A>C (p.Glu22Ala) c.296A>C (p.Glu99Ala) | |
4 | g.99428516C>A | CA357498607 | ADH7 | c.235G>T (p.Glu79Ter) c.271G>T (p.Glu91Ter) c.64G>T (p.Glu22Ter) c.295G>T (p.Glu99Ter) | |
4 | g.99428516C>G | CA357498606 | ADH7 | c.235G>C (p.Glu79Gln) c.271G>C (p.Glu91Gln) c.64G>C (p.Glu22Gln) c.295G>C (p.Glu99Gln) | |
4 | g.99428516C>T | CA357498605 | ADH7 | c.235G>A (p.Glu79Lys) c.271G>A (p.Glu91Lys) c.64G>A (p.Glu22Lys) c.295G>A (p.Glu99Lys) | gnomAD v4 |
4 | g.99428517T>A | CA440318626 | ADH7 | c.234A>T (p.Gly78=) c.270A>T (p.Gly90=) c.63A>T (p.Gly21=) c.294A>T (p.Gly98=) | |
4 | g.99428517T>C | CA440318630 | ADH7 | c.234A>G (p.Gly78=) c.270A>G (p.Gly90=) c.63A>G (p.Gly21=) c.294A>G (p.Gly98=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99428517T>G | CA440318627 | ADH7 | c.234A>C (p.Gly78=) c.270A>C (p.Gly90=) c.63A>C (p.Gly21=) c.294A>C (p.Gly98=) | |
4 | g.99428517T= | CA1480005272 | ADH7 | c.234A= (p.Gly78=) c.270A= (p.Gly90=) c.63A= (p.Gly21=) c.294A= (p.Gly98=) | |
4 | g.99428518C>A | CA357498608 | ADH7 | c.233G>T (p.Gly78Val) c.269G>T (p.Gly90Val) c.62G>T (p.Gly21Val) c.293G>T (p.Gly98Val) | |
4 | g.99428518C>G | CA357498609 | ADH7 | c.233G>C (p.Gly78Ala) c.269G>C (p.Gly90Ala) c.62G>C (p.Gly21Ala) c.293G>C (p.Gly98Ala) | |
4 | g.99428518C>T | CA357498610 | ADH7 | c.233G>A (p.Gly78Glu) c.269G>A (p.Gly90Glu) c.62G>A (p.Gly21Glu) c.293G>A (p.Gly98Glu) | |
4 | g.99428519C>A | CA357498611 | ADH7 | c.232G>T (p.Gly78Ter) c.268G>T (p.Gly90Ter) c.61G>T (p.Gly21Ter) c.292G>T (p.Gly98Ter) | |
4 | g.99428519C>G | CA357498612 | ADH7 | c.232G>C (p.Gly78Arg) c.268G>C (p.Gly90Arg) c.61G>C (p.Gly21Arg) c.292G>C (p.Gly98Arg) | |
4 | g.99428519C>T | CA357498613 | ADH7 | c.232G>A (p.Gly78Arg) c.268G>A (p.Gly90Arg) c.61G>A (p.Gly21Arg) c.292G>A (p.Gly98Arg) | gnomAD v4 |
4 | g.99428520A= | CA1480005276 | ADH7 | c.231T= (p.Ile77=) c.267T= (p.Ile89=) c.60T= (p.Ile20=) c.291T= (p.Ile97=) | |
4 | g.99428520A>C | CA357498614 | ADH7 | c.231T>G (p.Ile77Met) c.267T>G (p.Ile89Met) c.60T>G (p.Ile20Met) c.291T>G (p.Ile97Met) | |
4 | g.99428520A>G | CA440318645 | ADH7 | c.231T>C (p.Ile77=) c.267T>C (p.Ile89=) c.60T>C (p.Ile20=) c.291T>C (p.Ile97=) | dbSNP |
4 | g.99428520A>T | CA440318647 | ADH7 | c.231T>A (p.Ile77=) c.267T>A (p.Ile89=) c.60T>A (p.Ile20=) c.291T>A (p.Ile97=) | gnomAD v4 |
4 | g.99428521A= | CA1480005280 | ADH7 | c.230T= (p.Ile77=) c.266T= (p.Ile89=) c.59T= (p.Ile20=) c.290T= (p.Ile97=) | |
4 | g.99428521A>C | CA357498615 | ADH7 | c.230T>G (p.Ile77Ser) c.266T>G (p.Ile89Ser) c.59T>G (p.Ile20Ser) c.290T>G (p.Ile97Ser) | |
4 | g.99428521A>G | CA3020902 | ADH7 | c.230T>C (p.Ile77Thr) c.266T>C (p.Ile89Thr) c.59T>C (p.Ile20Thr) c.290T>C (p.Ile97Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99428521A>T | CA357498616 | ADH7 | c.230T>A (p.Ile77Asn) c.266T>A (p.Ile89Asn) c.59T>A (p.Ile20Asn) c.290T>A (p.Ile97Asn) | |
4 | g.99428522T>A | CA357498617 | ADH7 | c.229A>T (p.Ile77Phe) c.265A>T (p.Ile89Phe) c.58A>T (p.Ile20Phe) c.289A>T (p.Ile97Phe) | gnomAD v4 |
4 | g.99428522T>C | CA357498618 | ADH7 | c.229A>G (p.Ile77Val) c.265A>G (p.Ile89Val) c.58A>G (p.Ile20Val) c.289A>G (p.Ile97Val) | COSMIC COSMIC |
4 | g.99428522T>G | CA357498619 | ADH7 | c.229A>C (p.Ile77Leu) c.265A>C (p.Ile89Leu) c.58A>C (p.Ile20Leu) c.289A>C (p.Ile97Leu) | |
4 | g.99428523G>A | CA440318662 | ADH7 | c.228C>T (p.Ser76=) c.264C>T (p.Ser88=) c.57C>T (p.Ser19=) c.288C>T (p.Ser96=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99428523G>C | CA357498621 | ADH7 | c.228C>G (p.Ser76Arg) c.264C>G (p.Ser88Arg) c.57C>G (p.Ser19Arg) c.288C>G (p.Ser96Arg) | |
4 | g.99428523G= | CA1480005282 | ADH7 | c.228C= (p.Ser76=) c.264C= (p.Ser88=) c.57C= (p.Ser19=) c.288C= (p.Ser96=) | |
4 | g.99428523G>T | CA357498620 | ADH7 | c.228C>A (p.Ser76Arg) c.264C>A (p.Ser88Arg) c.57C>A (p.Ser19Arg) c.288C>A (p.Ser96Arg) | |
4 | g.99428524C>A | CA357498622 | ADH7 | c.227G>T (p.Ser76Ile) c.263G>T (p.Ser88Ile) c.56G>T (p.Ser19Ile) c.287G>T (p.Ser96Ile) | |
4 | g.99428524C= | CA1480005284 | ADH7 | c.227G= (p.Ser76=) c.263G= (p.Ser88=) c.56G= (p.Ser19=) c.287G= (p.Ser96=) | |
4 | g.99428524C>G | CA357498623 | ADH7 | c.227G>C (p.Ser76Thr) c.263G>C (p.Ser88Thr) c.56G>C (p.Ser19Thr) c.287G>C (p.Ser96Thr) | |
4 | g.99428524C>T | CA357498624 | ADH7 | c.227G>A (p.Ser76Asn) c.263G>A (p.Ser88Asn) c.56G>A (p.Ser19Asn) c.287G>A (p.Ser96Asn) | dbSNP gnomAD v4 |
4 | g.99428525T>A | CA357498625 | ADH7 | c.226A>T (p.Ser76Cys) c.262A>T (p.Ser88Cys) c.55A>T (p.Ser19Cys) c.286A>T (p.Ser96Cys) |