Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.172448249_172448270del | CA2524707107 | GHSR | c.144_165del (p.Thr49TrpfsTer?) | |
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) | ClinVar 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 |
3 | g.172448267G>C | CA436965605 | GHSR | c.147C>G (p.Thr49=) | |
3 | g.172448267G>T | CA436965607 | GHSR | c.147C>A (p.Thr49=) | |
3 | g.172448268G>A | CA2706523 | GHSR | c.146C>T (p.Thr49Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448268G>C | CA355516453 | GHSR | c.146C>G (p.Thr49Ser) | |
3 | g.172448268G= | CA1420511857 | GHSR | c.146C= (p.Thr49=) | |
3 | g.172448268G>T | CA355516455 | GHSR | c.146C>A (p.Thr49Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448269T>A | CA355516457 | GHSR | c.145A>T (p.Thr49Ser) | |
3 | g.172448269T>C | CA355516458 | GHSR | c.145A>G (p.Thr49Ala) | |
3 | g.172448269T>G | CA355516459 | GHSR | c.145A>C (p.Thr49Pro) | |
3 | g.172448270G>A | CA2706524 | GHSR | c.144C>T (p.Ala48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.172448270G>C | CA436965610 | GHSR | c.144C>G (p.Ala48=) | |
3 | g.172448270G= | CA1420511858 | GHSR | c.144C= (p.Ala48=) | |
3 | g.172448270G>T | CA436965611 | GHSR | c.144C>A (p.Ala48=) | |
3 | g.172448270_172448283del | CA645535948 | GHSR | c.131_144del (p.Ala44AspfsTer?) | COSMIC COSMIC |
3 | g.172448271G>A | CA355516469 | GHSR | c.143C>T (p.Ala48Val) | |
3 | g.172448271G>C | CA355516464 | GHSR | c.143C>G (p.Ala48Gly) | |
3 | g.172448271G= | CA1420511859 | GHSR | c.143C= (p.Ala48=) | |
3 | g.172448271G>T | CA355516466 | GHSR | c.143C>A (p.Ala48Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.172448272C>A | CA355516471 | GHSR | c.142G>T (p.Ala48Ser) | |
3 | g.172448272C>G | CA355516473 | GHSR | c.142G>C (p.Ala48Pro) | |
3 | g.172448272C>T | CA355516474 | GHSR | c.142G>A (p.Ala48Thr) | |
3 | g.172448273T>A | CA436965613 | GHSR | c.141A>T (p.Thr47=) | |
3 | g.172448273T>C | CA436965615 | GHSR | c.141A>G (p.Thr47=) | |
3 | g.172448273T>G | CA436965617 | GHSR | c.141A>C (p.Thr47=) | |
3 | g.172448273_172448274insAGGGTGACTTCATATGAGATTGTTTGGGCTACTGCTCGCAT | CA2668560153 | GHSR | c.141_142insTGCGAGCAGTAGCCCAAACAATCTCATATGAAGTCACCCTA (p.Ala48CysfsTer4) | gnomAD v4 |
3 | g.172448274G>A | CA355516480 | GHSR | c.140C>T (p.Thr47Ile) | |
3 | g.172448274G>C | CA355516478 | GHSR | c.140C>G (p.Thr47Arg) | |
3 | g.172448274G>T | CA355516476 | GHSR | c.140C>A (p.Thr47Lys) | gnomAD v4 |
3 | g.172448274_172448279del | CA2541600003 | GHSR | c.135_140del (p.Val46_Thr47del) | |
3 | g.172448275T>A | CA355516483 | GHSR | c.139A>T (p.Thr47Ser) | |
3 | g.172448275T>C | CA355516485 | GHSR | c.139A>G (p.Thr47Ala) | |
3 | g.172448275T>G | CA355516487 | GHSR | c.139A>C (p.Thr47Pro) | |
3 | g.172448276G>A | CA436965619 | GHSR | c.138C>T (p.Val46=) | dbSNP |
3 | g.172448276G>C | CA436965621 | GHSR | c.138C>G (p.Val46=) | |
3 | g.172448276G= | CA1420511860 | GHSR | c.138C= (p.Val46=) | |
3 | g.172448276G>T | CA436965623 | GHSR | c.138C>A (p.Val46=) | |
3 | g.172448277A= | CA1420511861 | GHSR | c.137T= (p.Val46=) | |
3 | g.172448277A>C | CA355516489 | GHSR | c.137T>G (p.Val46Gly) |