Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169259118C>A | CA349158362 | LRP2 | c.2420G>T (p.Ser807Ile) c.2009G>T (p.Ser670Ile) c.131G>T (p.Ser44Ile) | COSMIC |
2 | g.169259118C>G | CA349158363 | LRP2 | c.2420G>C (p.Ser807Thr) c.2009G>C (p.Ser670Thr) c.131G>C (p.Ser44Thr) | |
2 | g.169259118C>T | CA349158364 | LRP2 | c.2420G>A (p.Ser807Asn) c.2009G>A (p.Ser670Asn) c.131G>A (p.Ser44Asn) | gnomAD v4 COSMIC |
2 | g.169259119T>A | CA349158367 | LRP2 | c.2419A>T (p.Ser807Cys) c.2008A>T (p.Ser670Cys) c.130A>T (p.Ser44Cys) | |
2 | g.169259119T>C | CA349158368 | LRP2 | c.2419A>G (p.Ser807Gly) c.2008A>G (p.Ser670Gly) c.130A>G (p.Ser44Gly) | |
2 | g.169259119T>G | CA349158371 | LRP2 | c.2419A>C (p.Ser807Arg) c.2008A>C (p.Ser670Arg) c.130A>C (p.Ser44Arg) | |
2 | g.169259120C>A | CA349158372 | LRP2 | c.2418G>T (p.Lys806Asn) c.2007G>T (p.Lys669Asn) c.129G>T (p.Lys43Asn) | |
2 | g.169259120C>G | CA349158375 | LRP2 | c.2418G>C (p.Lys806Asn) c.2007G>C (p.Lys669Asn) c.129G>C (p.Lys43Asn) | |
2 | g.169259120C>T | CA429921066 | LRP2 | c.2418G>A (p.Lys806=) c.2007G>A (p.Lys669=) c.129G>A (p.Lys43=) | ClinVar |
2 | g.169259121T>A | CA349158377 | LRP2 | c.2417A>T (p.Lys806Met) c.2006A>T (p.Lys669Met) c.128A>T (p.Lys43Met) | |
2 | g.169259121T>C | CA349158379 | LRP2 | c.2417A>G (p.Lys806Arg) c.2006A>G (p.Lys669Arg) c.128A>G (p.Lys43Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169259121T>G | CA349158381 | LRP2 | c.2417A>C (p.Lys806Thr) c.2006A>C (p.Lys669Thr) c.128A>C (p.Lys43Thr) | |
2 | g.169259121T= | CA1306353761 | LRP2 | c.2417A= (p.Lys806=) c.2006A= (p.Lys669=) c.128A= (p.Lys43=) | |
2 | g.169259122T>A | CA349158385 | LRP2 | c.2416A>T (p.Lys806Ter) c.2005A>T (p.Lys669Ter) c.127A>T (p.Lys43Ter) | |
2 | g.169259122T>C | CA349158386 | LRP2 | c.2416A>G (p.Lys806Glu) c.2005A>G (p.Lys669Glu) c.127A>G (p.Lys43Glu) | |
2 | g.169259122T>G | CA349158394 | LRP2 | c.2416A>C (p.Lys806Gln) c.2005A>C (p.Lys669Gln) c.127A>C (p.Lys43Gln) | |
2 | g.169259123G>A | CA429921074 | LRP2 | c.2415C>T (p.Tyr805=) c.2004C>T (p.Tyr668=) c.126C>T (p.Tyr42=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259123G>C | CA349158395 | LRP2 | c.2415C>G (p.Tyr805Ter) c.2004C>G (p.Tyr668Ter) c.126C>G (p.Tyr42Ter) | |
2 | g.169259123G>T | CA349158396 | LRP2 | c.2415C>A (p.Tyr805Ter) c.2004C>A (p.Tyr668Ter) c.126C>A (p.Tyr42Ter) | COSMIC |
2 | g.169259124T>A | CA349158398 | LRP2 | c.2414A>T (p.Tyr805Phe) c.2003A>T (p.Tyr668Phe) c.125A>T (p.Tyr42Phe) | |
2 | g.169259124T>C | CA349158400 | LRP2 | c.2414A>G (p.Tyr805Cys) c.2003A>G (p.Tyr668Cys) c.125A>G (p.Tyr42Cys) | |
2 | g.169259124T>G | CA349158402 | LRP2 | c.2414A>C (p.Tyr805Ser) c.2003A>C (p.Tyr668Ser) c.125A>C (p.Tyr42Ser) | |
2 | g.169259125A= | CA1306353762 | LRP2 | c.2413T= (p.Tyr805=) c.2002T= (p.Tyr668=) c.124T= (p.Tyr42=) | |
2 | g.169259125A>C | CA349158405 | LRP2 | c.2413T>G (p.Tyr805Asp) c.2002T>G (p.Tyr668Asp) c.124T>G (p.Tyr42Asp) | |
2 | g.169259125A>G | CA1955307 | LRP2 | c.2413T>C (p.Tyr805His) c.2002T>C (p.Tyr668His) c.124T>C (p.Tyr42His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259125A>T | CA349158403 | LRP2 | c.2413T>A (p.Tyr805Asn) c.2002T>A (p.Tyr668Asn) c.124T>A (p.Tyr42Asn) | |
2 | g.169259126A>C | CA349158407 | LRP2 | c.2412T>G (p.His804Gln) c.2001T>G (p.His667Gln) c.123T>G (p.His41Gln) | |
2 | g.169259126A>G | CA429921081 | LRP2 | c.2412T>C (p.His804=) c.2001T>C (p.His667=) c.123T>C (p.His41=) | |
2 | g.169259126A>T | CA349158409 | LRP2 | c.2412T>A (p.His804Gln) c.2001T>A (p.His667Gln) c.123T>A (p.His41Gln) | |
2 | g.169259127T>A | CA349158411 | LRP2 | c.2411A>T (p.His804Leu) c.2000A>T (p.His667Leu) c.122A>T (p.His41Leu) | |
2 | g.169259127T>C | CA349158412 | LRP2 | c.2411A>G (p.His804Arg) c.2000A>G (p.His667Arg) c.122A>G (p.His41Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259127T>G | CA349158414 | LRP2 | c.2411A>C (p.His804Pro) c.2000A>C (p.His667Pro) c.122A>C (p.His41Pro) | |
2 | g.169259127T= | CA1306353763 | LRP2 | c.2411A= (p.His804=) c.2000A= (p.His667=) c.122A= (p.His41=) | |
2 | g.169259128G>A | CA349158415 | LRP2 | c.2410C>T (p.His804Tyr) c.1999C>T (p.His667Tyr) c.121C>T (p.His41Tyr) | dbSNP |
2 | g.169259128G>C | CA349158417 | LRP2 | c.2410C>G (p.His804Asp) c.1999C>G (p.His667Asp) c.121C>G (p.His41Asp) | |
2 | g.169259128G= | CA1306353764 | LRP2 | c.2410C= (p.His804=) c.1999C= (p.His667=) c.121C= (p.His41=) | |
2 | g.169259128G>T | CA1955308 | LRP2 | c.2410C>A (p.His804Asn) c.1999C>A (p.His667Asn) c.121C>A (p.His41Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169259129A= | CA1306353765 | LRP2 | c.2409T= (p.Ser803=) c.1998T= (p.Ser666=) c.120T= (p.Ser40=) | |
2 | g.169259129A>C | CA59921096 | LRP2 | c.2409T>G (p.Ser803=) c.1998T>G (p.Ser666=) c.120T>G (p.Ser40=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259129A>G | CA429921086 | LRP2 | c.2409T>C (p.Ser803=) c.1998T>C (p.Ser666=) c.120T>C (p.Ser40=) | |
2 | g.169259129A>T | CA429921087 | LRP2 | c.2409T>A (p.Ser803=) c.1998T>A (p.Ser666=) c.120T>A (p.Ser40=) | |
2 | g.169259130G>A | CA349158420 | LRP2 | c.2408C>T (p.Ser803Phe) c.1997C>T (p.Ser666Phe) c.119C>T (p.Ser40Phe) | gnomAD v4 |
2 | g.169259130G>C | CA349158421 | LRP2 | c.2408C>G (p.Ser803Cys) c.1997C>G (p.Ser666Cys) c.119C>G (p.Ser40Cys) | |
2 | g.169259130G= | CA1306353766 | LRP2 | c.2408C= (p.Ser803=) c.1997C= (p.Ser666=) c.119C= (p.Ser40=) | |
2 | g.169259130G>T | CA349158423 | LRP2 | c.2408C>A (p.Ser803Tyr) c.1997C>A (p.Ser666Tyr) c.119C>A (p.Ser40Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169259131A= | CA1306353767 | LRP2 | c.2407T= (p.Ser803=) c.1996T= (p.Ser666=) c.118T= (p.Ser40=) | |
2 | g.169259131A>C | CA349158426 | LRP2 | c.2407T>G (p.Ser803Ala) c.1996T>G (p.Ser666Ala) c.118T>G (p.Ser40Ala) | |
2 | g.169259131A>G | CA1955309 | LRP2 | c.2407T>C (p.Ser803Pro) c.1996T>C (p.Ser666Pro) c.118T>C (p.Ser40Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169259131A>T | CA349158424 | LRP2 | c.2407T>A (p.Ser803Thr) c.1996T>A (p.Ser666Thr) c.118T>A (p.Ser40Thr) | |
2 | g.169259132G>A | CA429921089 | LRP2 | c.2406C>T (p.Asp802=) c.1995C>T (p.Asp665=) c.117C>T (p.Asp39=) | dbSNP gnomAD v4 |