Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.172448249_172448270del | CA2524707107 | GHSR | c.144_165del (p.Thr49TrpfsTer?) | |
3 | g.172448251_172448254delinsCGAA | CA1420511847 | GHSR | c.160_163delinsTTCG (p.Phe54=) | |
3 | g.172448254_172448256del | CA2706520 | GHSR | c.160_162del (p.Phe54del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448254A>C | CA355516385 | GHSR | c.160T>G (p.Phe54Val) | |
3 | g.172448254A>G | CA355516386 | GHSR | c.160T>C (p.Phe54Leu) | |
3 | g.172448254A>T | CA355516388 | GHSR | c.160T>A (p.Phe54Ile) | |
3 | g.172448255G>A | CA436965586 | GHSR | c.159C>T (p.Leu53=) | gnomAD v4 |
3 | g.172448255G>C | CA436965587 | GHSR | c.159C>G (p.Leu53=) | gnomAD v4 |
3 | g.172448255G>T | CA436965588 | GHSR | c.159C>A (p.Leu53=) | |
3 | g.172448256A= | CA1420511850 | GHSR | c.158T= (p.Leu53=) | |
3 | g.172448256A>C | CA355516394 | GHSR | c.158T>G (p.Leu53Arg) | |
3 | g.172448256A>G | CA355516395 | GHSR | c.158T>C (p.Leu53Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448256A>T | CA355516391 | GHSR | c.158T>A (p.Leu53His) | gnomAD v4 |
3 | g.172448257G>A | CA355516401 | GHSR | c.157C>T (p.Leu53Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.172448257G>C | CA355516397 | GHSR | c.157C>G (p.Leu53Val) | |
3 | g.172448257G= | CA1420511851 | GHSR | c.157C= (p.Leu53=) | |
3 | g.172448257G>T | CA355516399 | GHSR | c.157C>A (p.Leu53Ile) | |
3 | g.172448258T>A | CA436965592 | GHSR | c.156A>T (p.Ala52=) | |
3 | g.172448258T>C | CA436965590 | GHSR | c.156A>G (p.Ala52=) | |
3 | g.172448258T>G | CA436965591 | GHSR | c.156A>C (p.Ala52=) | |
3 | g.172448259G>A | CA87786194 | GHSR | c.155C>T (p.Ala52Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448259G>C | CA355516405 | GHSR | c.155C>G (p.Ala52Gly) | |
3 | g.172448259G= | CA1420511852 | GHSR | c.155C= (p.Ala52=) | |
3 | g.172448259G>T | CA355516407 | GHSR | c.155C>A (p.Ala52Glu) | gnomAD v4 |
3 | g.172448260C>A | CA87786216 | GHSR | c.154G>T (p.Ala52Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448260C= | CA1420511853 | GHSR | c.154G= (p.Ala52=) | |
3 | g.172448260C>G | CA355516411 | GHSR | c.154G>C (p.Ala52Pro) | |
3 | g.172448260C>T | CA355516414 | GHSR | c.154G>A (p.Ala52Thr) | gnomAD v4 |
3 | g.172448261C>A | CA436965593 | GHSR | c.153G>T (p.Val51=) | |
3 | g.172448261C= | CA1420511854 | GHSR | c.153G= (p.Val51=) | |
3 | g.172448261C>G | CA436965594 | GHSR | c.153G>C (p.Val51=) | |
3 | g.172448261C>T | CA2706521 | GHSR | c.153G>A (p.Val51=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.172448262A>C | CA355516417 | GHSR | c.152T>G (p.Val51Gly) | |
3 | g.172448262A>G | CA355516419 | GHSR | c.152T>C (p.Val51Ala) | |
3 | g.172448262A>T | CA355516421 | GHSR | c.152T>A (p.Val51Glu) | |
3 | g.172448263C>A | CA2706522 | GHSR | c.151G>T (p.Val51Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448263C= | CA1420511855 | GHSR | c.151G= (p.Val51=) | |
3 | g.172448263C>G | CA355516426 | GHSR | c.151G>C (p.Val51Leu) | COSMIC COSMIC |
3 | g.172448263C>T | CA355516423 | GHSR | c.151G>A (p.Val51Met) | gnomAD v4 COSMIC COSMIC |
3 | g.172448264G>A | CA436965597 | GHSR | c.150C>T (p.Cys50=) | gnomAD v4 COSMIC COSMIC |
3 | g.172448264G>C | CA355516430 | GHSR | c.150C>G (p.Cys50Trp) | |
3 | g.172448264G= | CA1420511856 | GHSR | c.150C= (p.Cys50=) | |
3 | g.172448264G>T | CA355516435 | GHSR | c.150C>A (p.Cys50Ter) | dbSNP gnomAD v2 |
3 | g.172448265C>A | CA355516439 | GHSR | c.149G>T (p.Cys50Phe) | |
3 | g.172448265C>G | CA355516440 | GHSR | c.149G>C (p.Cys50Ser) | |
3 | g.172448265C>T | CA355516443 | GHSR | c.149G>A (p.Cys50Tyr) | gnomAD v4 |
3 | g.172448266A>C | CA355516450 | GHSR | c.148T>G (p.Cys50Gly) | |
3 | g.172448266A>G | CA355516446 | GHSR | c.148T>C (p.Cys50Arg) | |
3 | g.172448266A>T | CA355516448 | GHSR | c.148T>A (p.Cys50Ser) | |
3 | g.172448267G>A | CA436965603 | GHSR | c.147C>T (p.Thr49=) | gnomAD v4 |