OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68761526G>A | CA600239619 | CPT1A | c.2028+9C>T (n.2028+9C>T) c.2124+9C>T (n.2124+9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68761526G>T | CA2580084746 | CPT1A | c.2028+9C>A (n.2028+9C>A) c.2124+9C>A (n.2124+9C>A) | ClinVar |
| 11 | g.68761528G>C | CA6152125 | CPT1A | c.2028+7C>G (n.2028+7C>G) c.2124+7C>G (n.2124+7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761528G>T | CA2614731028 | CPT1A | c.2028+7C>A (n.2028+7C>A) c.2124+7C>A (n.2124+7C>A) | gnomAD v4 |
| 11 | g.68761529A>C | CA6152126 | CPT1A | c.2028+6T>G (n.2028+6T>G) c.2124+6T>G (n.2124+6T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761529A>G | CA223366385 | CPT1A | c.2028+6T>C (n.2028+6T>C) c.2124+6T>C (n.2124+6T>C) | dbSNP |
| 11 | g.68761529A>T | CA600239620 | CPT1A | c.2028+6T>A (n.2028+6T>A) c.2124+6T>A (n.2124+6T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68761533_68761536del | CA344980 | CPT1A | c.2028+3_2028+6del c.2124+3_2124+6del | ClinVar dbSNP |
| 11 | g.68761531T>C | CA2614731040 | CPT1A | c.2028+4A>G (n.2028+4A>G) c.2124+4A>G (n.2124+4A>G) | gnomAD v4 |
| 11 | g.68761532T>G | CA6152127 | CPT1A | c.2028+3A>C (n.2028+3A>C) c.2124+3A>C (n.2124+3A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761533A>C | CA381626353 | CPT1A | c.2028+2T>G (n.2028+2T>G) c.2124+2T>G (n.2124+2T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68761533A>G | CA381626354 | CPT1A | c.2028+2T>C (n.2028+2T>C) c.2124+2T>C (n.2124+2T>C) | |
| 11 | g.68761533A>T | CA381626355 | CPT1A | c.2028+2T>A (n.2028+2T>A) c.2124+2T>A (n.2124+2T>A) | gnomAD v4 |
| 11 | g.68761534C>A | CA381626358 | CPT1A | c.2028+1G>T (n.2028+1G>T) c.2124+1G>T (n.2124+1G>T) | |
| 11 | g.68761534C>G | CA381626356 | CPT1A | c.2028+1G>C (n.2028+1G>C) c.2124+1G>C (n.2124+1G>C) | |
| 11 | g.68761534C>T | CA381626357 | CPT1A | c.2028+1G>A (n.2028+1G>A) c.2124+1G>A (n.2124+1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68761535T>A | CA381626359 | CPT1A | c.2028A>T (p.Glu676Asp) c.2124A>T (p.Glu708Asp) | |
| 11 | g.68761535T>C | CA475182464 | CPT1A | c.2028A>G (p.Glu676=) c.2124A>G (p.Glu708=) | |
| 11 | g.68761535T>G | CA381626360 | CPT1A | c.2028A>C (p.Glu676Asp) c.2124A>C (p.Glu708Asp) | |
| 11 | g.68761536T>A | CA381626361 | CPT1A | c.2027A>T (p.Glu676Val) c.2123A>T (p.Glu708Val) | |
| 11 | g.68761536T>C | CA381626362 | CPT1A | c.2027A>G (p.Glu676Gly) c.2123A>G (p.Glu708Gly) | |
| 11 | g.68761536T>G | CA381626363 | CPT1A | c.2027A>C (p.Glu676Ala) c.2123A>C (p.Glu708Ala) | |
| 11 | g.68761537C>A | CA381626364 | CPT1A | c.2026G>T (p.Glu676Ter) c.2122G>T (p.Glu708Ter) | |
| 11 | g.68761537C>G | CA381626366 | CPT1A | c.2026G>C (p.Glu676Gln) c.2122G>C (p.Glu708Gln) | gnomAD v4 |
| 11 | g.68761537C>T | CA381626365 | CPT1A | c.2026G>A (p.Glu676Lys) c.2122G>A (p.Glu708Lys) | |
| 11 | g.68761538C>A | CA381626367 | CPT1A | c.2025G>T (p.Lys675Asn) c.2121G>T (p.Lys707Asn) | |
| 11 | g.68761538C>G | CA381626368 | CPT1A | c.2025G>C (p.Lys675Asn) c.2121G>C (p.Lys707Asn) | |
| 11 | g.68761538C>T | CA475182475 | CPT1A | c.2025G>A (p.Lys675=) c.2121G>A (p.Lys707=) | ClinVar dbSNP |
| 11 | g.68761539T>A | CA381626370 | CPT1A | c.2024A>T (p.Lys675Met) c.2120A>T (p.Lys707Met) | |
| 11 | g.68761539T>C | CA381626372 | CPT1A | c.2024A>G (p.Lys675Arg) c.2120A>G (p.Lys707Arg) | |
| 11 | g.68761539T>G | CA381626374 | CPT1A | c.2024A>C (p.Lys675Thr) c.2120A>C (p.Lys707Thr) | |
| 11 | g.68761540T>A | CA381626378 | CPT1A | c.2023A>T (p.Lys675Ter) c.2119A>T (p.Lys707Ter) | |
| 11 | g.68761540T>C | CA381626379 | CPT1A | c.2023A>G (p.Lys675Glu) c.2119A>G (p.Lys707Glu) | gnomAD v4 |
| 11 | g.68761540T>G | CA381626381 | CPT1A | c.2023A>C (p.Lys675Gln) c.2119A>C (p.Lys707Gln) | |
| 11 | g.68761541A>C | CA475182482 | CPT1A | c.2022T>G (p.Leu674=) c.2118T>G (p.Leu706=) | |
| 11 | g.68761541A>G | CA475182486 | CPT1A | c.2022T>C (p.Leu674=) c.2118T>C (p.Leu706=) | gnomAD v4 |
| 11 | g.68761541A>T | CA475182484 | CPT1A | c.2022T>A (p.Leu674=) c.2118T>A (p.Leu706=) | |
| 11 | g.68761545_68761549del | CA679631617 | CPT1A | c.2018_2022del (p.Phe673Ter) c.2114_2118del (p.Phe705Ter) | ClinVar dbSNP |
| 11 | g.68761542A>C | CA381626382 | CPT1A | c.2021T>G (p.Leu674Arg) c.2117T>G (p.Leu706Arg) | |
| 11 | g.68761542A>G | CA381626385 | CPT1A | c.2021T>C (p.Leu674Pro) c.2117T>C (p.Leu706Pro) | gnomAD v4 |
| 11 | g.68761542A>T | CA381626387 | CPT1A | c.2021T>A (p.Leu674His) c.2117T>A (p.Leu706His) | |
| 11 | g.68761543G>A | CA381626390 | CPT1A | c.2020C>T (p.Leu674Phe) c.2116C>T (p.Leu706Phe) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68761543G>C | CA381626393 | CPT1A | c.2020C>G (p.Leu674Val) c.2116C>G (p.Leu706Val) | |
| 11 | g.68761543G>T | CA223366387 | CPT1A | c.2020C>A (p.Leu674Ile) c.2116C>A (p.Leu706Ile) | dbSNP COSMIC COSMIC |
| 11 | g.68761544G>A | CA475182501 | CPT1A | c.2019C>T (p.Phe673=) c.2115C>T (p.Phe705=) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68761544G>C | CA381626396 | CPT1A | c.2019C>G (p.Phe673Leu) c.2115C>G (p.Phe705Leu) | |
| 11 | g.68761544G>T | CA381626398 | CPT1A | c.2019C>A (p.Phe673Leu) c.2115C>A (p.Phe705Leu) | |
| 11 | g.68761545A>C | CA381626401 | CPT1A | c.2018T>G (p.Phe673Cys) c.2114T>G (p.Phe705Cys) | |
| 11 | g.68761545A>G | CA381626405 | CPT1A | c.2018T>C (p.Phe673Ser) c.2114T>C (p.Phe705Ser) | |
| 11 | g.68761545A>T | CA381626403 | CPT1A | c.2018T>A (p.Phe673Tyr) c.2114T>A (p.Phe705Tyr) | |
| 11 | g.68761546A>C | CA381626408 | CPT1A | c.2017T>G (p.Phe673Val) c.2113T>G (p.Phe705Val) | |
| 11 | g.68761546A>G | CA6152128 | CPT1A | c.2017T>C (p.Phe673Leu) c.2113T>C (p.Phe705Leu) | dbSNP ExAC gnomAD v2 |
| 11 | g.68761546A>T | CA381626410 | CPT1A | c.2017T>A (p.Phe673Ile) c.2113T>A (p.Phe705Ile) | |
| 11 | g.68761547A>C | CA475182510 | CPT1A | c.2016T>G (p.Pro672=) c.2112T>G (p.Pro704=) | |
| 11 | g.68761547A>G | CA475182512 | CPT1A | c.2016T>C (p.Pro672=) c.2112T>C (p.Pro704=) | gnomAD v4 |
| 11 | g.68761547A>T | CA475182516 | CPT1A | c.2016T>A (p.Pro672=) c.2112T>A (p.Pro704=) | |
| 11 | g.68761548G>A | CA6152129 | CPT1A | c.2015C>T (p.Pro672Leu) c.2111C>T (p.Pro704Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68761548G>C | CA381626416 | CPT1A | c.2015C>G (p.Pro672Arg) c.2111C>G (p.Pro704Arg) | |
| 11 | g.68761548G>T | CA381626418 | CPT1A | c.2015C>A (p.Pro672His) c.2111C>A (p.Pro704His) | |
| 11 | g.68761551del | CA2614731100 | CPT1A | c.2015del (p.Pro672LeufsTer?) c.2111del (p.Pro704LeufsTer?) | ClinVar gnomAD v4 |
| 11 | g.68761549G>A | CA223366390 | CPT1A | c.2014C>T (p.Pro672Ser) c.2110C>T (p.Pro704Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68761549G>C | CA223366394 | CPT1A | c.2014C>G (p.Pro672Ala) c.2110C>G (p.Pro704Ala) | dbSNP |
| 11 | g.68761549G>T | CA381626424 | CPT1A | c.2014C>A (p.Pro672Thr) c.2110C>A (p.Pro704Thr) | |
| 11 | g.68761550G>A | CA6152130 | CPT1A | c.2013C>T (p.Ser671=) c.2109C>T (p.Ser703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761550G>C | CA475182531 | CPT1A | c.2013C>G (p.Ser671=) c.2109C>G (p.Ser703=) | |
| 11 | g.68761550G>T | CA475182525 | CPT1A | c.2013C>A (p.Ser671=) c.2109C>A (p.Ser703=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68761551G>A | CA381626429 | CPT1A | c.2012C>T (p.Ser671Phe) c.2108C>T (p.Ser703Phe) | |
| 11 | g.68761551G>C | CA381626431 | CPT1A | c.2012C>G (p.Ser671Cys) c.2108C>G (p.Ser703Cys) | gnomAD v4 |
| 11 | g.68761551G>T | CA381626433 | CPT1A | c.2012C>A (p.Ser671Tyr) c.2108C>A (p.Ser703Tyr) | |
| 11 | g.68761552A>C | CA381626440 | CPT1A | c.2011T>G (p.Ser671Ala) c.2107T>G (p.Ser703Ala) | |
| 11 | g.68761552A>G | CA381626438 | CPT1A | c.2011T>C (p.Ser671Pro) c.2107T>C (p.Ser703Pro) | |
| 11 | g.68761552A>T | CA381626436 | CPT1A | c.2011T>A (p.Ser671Thr) c.2107T>A (p.Ser703Thr) | dbSNP gnomAD v4 |
| 11 | g.68761553C>A | CA381626443 | CPT1A | c.2010G>T (p.Glu670Asp) c.2106G>T (p.Glu702Asp) | |
| 11 | g.68761553C>G | CA381626445 | CPT1A | c.2010G>C (p.Glu670Asp) c.2106G>C (p.Glu702Asp) | |
| 11 | g.68761553C>T | CA475182545 | CPT1A | c.2010G>A (p.Glu670=) c.2106G>A (p.Glu702=) | ClinVar dbSNP |
| 11 | g.68761554T>A | CA381626448 | CPT1A | c.2009A>T (p.Glu670Val) c.2105A>T (p.Glu702Val) | |
| 11 | g.68761554T>C | CA381626449 | CPT1A | c.2009A>G (p.Glu670Gly) c.2105A>G (p.Glu702Gly) | |
| 11 | g.68761554T>G | CA381626451 | CPT1A | c.2009A>C (p.Glu670Ala) c.2105A>C (p.Glu702Ala) | |
| 11 | g.68761555C>A | CA381626453 | CPT1A | c.2008G>T (p.Glu670Ter) c.2104G>T (p.Glu702Ter) | |
| 11 | g.68761555C>G | CA381626455 | CPT1A | c.2008G>C (p.Glu670Gln) c.2104G>C (p.Glu702Gln) | |
| 11 | g.68761555C>T | CA381626457 | CPT1A | c.2008G>A (p.Glu670Lys) c.2104G>A (p.Glu702Lys) | |
| 11 | g.68761556C>A | CA475182553 | CPT1A | c.2007G>T (p.Val669=) c.2103G>T (p.Val701=) | |
| 11 | g.68761556C>G | CA475182554 | CPT1A | c.2007G>C (p.Val669=) c.2103G>C (p.Val701=) | |
| 11 | g.68761556C>T | CA475182555 | CPT1A | c.2007G>A (p.Val669=) c.2103G>A (p.Val701=) | |
| 11 | g.68761557A>C | CA381626460 | CPT1A | c.2006T>G (p.Val669Gly) c.2102T>G (p.Val701Gly) | |
| 11 | g.68761557A>G | CA381626462 | CPT1A | c.2006T>C (p.Val669Ala) c.2102T>C (p.Val701Ala) | dbSNP gnomAD v4 |
| 11 | g.68761557A>T | CA381626464 | CPT1A | c.2006T>A (p.Val669Glu) c.2102T>A (p.Val701Glu) | |
| 11 | g.68761558C>A | CA381626469 | CPT1A | c.2005G>T (p.Val669Leu) c.2101G>T (p.Val701Leu) | ClinVar dbSNP |
| 11 | g.68761558C>G | CA381626471 | CPT1A | c.2005G>C (p.Val669Leu) c.2101G>C (p.Val701Leu) | |
| 11 | g.68761558C>T | CA381626467 | CPT1A | c.2005G>A (p.Val669Met) c.2101G>A (p.Val701Met) | dbSNP gnomAD v4 |
| 11 | g.68761559A>C | CA475182564 | CPT1A | c.2004T>G (p.Ala668=) c.2100T>G (p.Ala700=) | |
| 11 | g.68761559A>G | CA312410 | CPT1A | c.2004T>C (p.Ala668=) c.2100T>C (p.Ala700=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761559A>T | CA475182566 | CPT1A | c.2004T>A (p.Ala668=) c.2100T>A (p.Ala700=) | |
| 11 | g.68761560G>A | CA381626475 | CPT1A | c.2003C>T (p.Ala668Val) c.2099C>T (p.Ala700Val) | |
| 11 | g.68761560G>C | CA381626478 | CPT1A | c.2003C>G (p.Ala668Gly) c.2099C>G (p.Ala700Gly) | |
| 11 | g.68761560G>T | CA381626480 | CPT1A | c.2003C>A (p.Ala668Asp) c.2099C>A (p.Ala700Asp) | |
| 11 | g.68761561C>A | CA381626483 | CPT1A | c.2002G>T (p.Ala668Ser) c.2098G>T (p.Ala700Ser) | dbSNP gnomAD v4 |
| 11 | g.68761561C>G | CA381626485 | CPT1A | c.2002G>C (p.Ala668Pro) c.2098G>C (p.Ala700Pro) | |
| 11 | g.68761561C>T | CA6152131 | CPT1A | c.2002G>A (p.Ala668Thr) c.2098G>A (p.Ala700Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761562G>A | CA6152132 | CPT1A | c.2001C>T (p.Leu667=) c.2097C>T (p.Leu699=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761562G>C | CA475182576 | CPT1A | c.2001C>G (p.Leu667=) c.2097C>G (p.Leu699=) | gnomAD v4 |
| 11 | g.68761562G>T | CA475182577 | CPT1A | c.2001C>A (p.Leu667=) c.2097C>A (p.Leu699=) | gnomAD v4 |
| 11 | g.68761563A>C | CA381626490 | CPT1A | c.2000T>G (p.Leu667Arg) c.2096T>G (p.Leu699Arg) | |
| 11 | g.68761563A>G | CA381626492 | CPT1A | c.2000T>C (p.Leu667Pro) c.2096T>C (p.Leu699Pro) | |
| 11 | g.68761563A>T | CA381626495 | CPT1A | c.2000T>A (p.Leu667His) c.2096T>A (p.Leu699His) | |
| 11 | g.68761564G>A | CA381626497 | CPT1A | c.1999C>T (p.Leu667Phe) c.2095C>T (p.Leu699Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68761564G>C | CA381626500 | CPT1A | c.1999C>G (p.Leu667Val) c.2095C>G (p.Leu699Val) | |
| 11 | g.68761564G>T | CA381626502 | CPT1A | c.1999C>A (p.Leu667Ile) c.2095C>A (p.Leu699Ile) | |
| 11 | g.68761565A>C | CA381626505 | CPT1A | c.1998T>G (p.Tyr666Ter) c.2094T>G (p.Tyr698Ter) | |
| 11 | g.68761565A>G | CA475182586 | CPT1A | c.1998T>C (p.Tyr666=) c.2094T>C (p.Tyr698=) | |
| 11 | g.68761565A>T | CA381626507 | CPT1A | c.1998T>A (p.Tyr666Ter) c.2094T>A (p.Tyr698Ter) | |
| 11 | g.68761566T>A | CA381626512 | CPT1A | c.1997A>T (p.Tyr666Phe) c.2093A>T (p.Tyr698Phe) | |
| 11 | g.68761566T>C | CA381626515 | CPT1A | c.1997A>G (p.Tyr666Cys) c.2093A>G (p.Tyr698Cys) | gnomAD v4 |
| 11 | g.68761566T>G | CA381626517 | CPT1A | c.1997A>C (p.Tyr666Ser) c.2093A>C (p.Tyr698Ser) | |
| 11 | g.68761566_68761567insTTTT | CA16041534 | CPT1A | c.1997_1998insAAAA (p.Tyr666Ter) c.2093_2094insAAAA (p.Tyr698Ter) | ClinVar dbSNP |
| 11 | g.68761567A>C | CA381626520 | CPT1A | c.1996T>G (p.Tyr666Asp) c.2092T>G (p.Tyr698Asp) | |
| 11 | g.68761567A>G | CA381626522 | CPT1A | c.1996T>C (p.Tyr666His) c.2092T>C (p.Tyr698His) | |
| 11 | g.68761567A>T | CA381626524 | CPT1A | c.1996T>A (p.Tyr666Asn) c.2092T>A (p.Tyr698Asn) | |
| 11 | g.68761568T>A | CA381626526 | CPT1A | c.1995A>T (p.Lys665Asn) c.2091A>T (p.Lys697Asn) | |
| 11 | g.68761568T>C | CA475182599 | CPT1A | c.1995A>G (p.Lys665=) c.2091A>G (p.Lys697=) | gnomAD v4 |
| 11 | g.68761568T>G | CA381626529 | CPT1A | c.1995A>C (p.Lys665Asn) c.2091A>C (p.Lys697Asn) | |
| 11 | g.68761568_68761570delinsA | CA2580084747 | CPT1A | c.1993_1995delinsT (p.Lys665LeufsTer10) c.2089_2091delinsT (p.Lys697LeufsTer10) | ClinVar |
| 11 | g.68761569T>A | CA381626532 | CPT1A | c.1994A>T (p.Lys665Ile) c.2090A>T (p.Lys697Ile) | |
| 11 | g.68761569T>C | CA381626534 | CPT1A | c.1994A>G (p.Lys665Arg) c.2090A>G (p.Lys697Arg) | |
| 11 | g.68761569T>G | CA381626535 | CPT1A | c.1994A>C (p.Lys665Thr) c.2090A>C (p.Lys697Thr) | |
| 11 | g.68761570T>A | CA381626544 | CPT1A | c.1993A>T (p.Lys665Ter) c.2089A>T (p.Lys697Ter) | |
| 11 | g.68761570T>C | CA381626541 | CPT1A | c.1993A>G (p.Lys665Glu) c.2089A>G (p.Lys697Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68761570T>G | CA381626539 | CPT1A | c.1993A>C (p.Lys665Gln) c.2089A>C (p.Lys697Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68761571A>C | CA475182609 | CPT1A | c.1992T>G (p.Ser664=) c.2088T>G (p.Ser696=) | |
| 11 | g.68761571A>G | CA475182612 | CPT1A | c.1992T>C (p.Ser664=) c.2088T>C (p.Ser696=) | |
| 11 | g.68761571A>T | CA475182611 | CPT1A | c.1992T>A (p.Ser664=) c.2088T>A (p.Ser696=) | |
| 11 | g.68761572G>A | CA381626547 | CPT1A | c.1991C>T (p.Ser664Phe) c.2087C>T (p.Ser696Phe) | |
| 11 | g.68761572G>C | CA381626551 | CPT1A | c.1991C>G (p.Ser664Cys) c.2087C>G (p.Ser696Cys) | |
| 11 | g.68761572G>T | CA381626549 | CPT1A | c.1991C>A (p.Ser664Tyr) c.2087C>A (p.Ser696Tyr) | |
| 11 | g.68761573A>C | CA381626554 | CPT1A | c.1990T>G (p.Ser664Ala) c.2086T>G (p.Ser696Ala) | |
| 11 | g.68761573A>G | CA381626556 | CPT1A | c.1990T>C (p.Ser664Pro) c.2086T>C (p.Ser696Pro) | |
| 11 | g.68761573A>T | CA381626558 | CPT1A | c.1990T>A (p.Ser664Thr) c.2086T>A (p.Ser696Thr) | |
| 11 | g.68761574C>A | CA475182619 | CPT1A | c.1989G>T (p.Val663=) c.2085G>T (p.Val695=) | dbSNP |
| 11 | g.68761574C>G | CA475182621 | CPT1A | c.1989G>C (p.Val663=) c.2085G>C (p.Val695=) | |
| 11 | g.68761574C>T | CA6152133 | CPT1A | c.1989G>A (p.Val663=) c.2085G>A (p.Val695=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761575A>C | CA381626563 | CPT1A | c.1988T>G (p.Val663Gly) c.2084T>G (p.Val695Gly) | |
| 11 | g.68761575A>G | CA381626565 | CPT1A | c.1988T>C (p.Val663Ala) c.2084T>C (p.Val695Ala) | |
| 11 | g.68761575A>T | CA381626567 | CPT1A | c.1988T>A (p.Val663Glu) c.2084T>A (p.Val695Glu) | |
| 11 | g.68761576C>A | CA381626571 | CPT1A | c.1987G>T (p.Val663Leu) c.2083G>T (p.Val695Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68761576C>G | CA381626573 | CPT1A | c.1987G>C (p.Val663Leu) c.2083G>C (p.Val695Leu) | |
| 11 | g.68761576C>T | CA6152134 | CPT1A | c.1987G>A (p.Val663Met) c.2083G>A (p.Val695Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761577C>A | CA475182629 | CPT1A | c.1986G>T (p.Val662=) c.2082G>T (p.Val694=) | |
| 11 | g.68761577C>G | CA475182631 | CPT1A | c.1986G>C (p.Val662=) c.2082G>C (p.Val694=) | |
| 11 | g.68761577C>T | CA475182633 | CPT1A | c.1986G>A (p.Val662=) c.2082G>A (p.Val694=) | |
| 11 | g.68761578A>C | CA6152135 | CPT1A | c.1985T>G (p.Val662Gly) c.2081T>G (p.Val694Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761578A>G | CA381626580 | CPT1A | c.1985T>C (p.Val662Ala) c.2081T>C (p.Val694Ala) | |
| 11 | g.68761578A>T | CA381626577 | CPT1A | c.1985T>A (p.Val662Glu) c.2081T>A (p.Val694Glu) | |
| 11 | g.68761579C>A | CA381626584 | CPT1A | c.1984G>T (p.Val662Leu) c.2080G>T (p.Val694Leu) | dbSNP |
| 11 | g.68761579C>G | CA381626586 | CPT1A | c.1984G>C (p.Val662Leu) c.2080G>C (p.Val694Leu) | |
| 11 | g.68761579C>T | CA6152136 | CPT1A | c.1984G>A (p.Val662Met) c.2080G>A (p.Val694Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761579dup | CA2573147673 | CPT1A | c.1984dup (p.Val662GlyfsTer4) c.2080dup (p.Val694GlyfsTer4) | ClinVar dbSNP |
| 11 | g.68761580G>A | CA6152137 | CPT1A | c.1983C>T (p.Tyr661=) c.2079C>T (p.Tyr693=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761580G>C | CA381626592 | CPT1A | c.1983C>G (p.Tyr661Ter) c.2079C>G (p.Tyr693Ter) | |
| 11 | g.68761580G>T | CA381626595 | CPT1A | c.1983C>A (p.Tyr661Ter) c.2079C>A (p.Tyr693Ter) | |
| 11 | g.68761581T>A | CA381626598 | CPT1A | c.1982A>T (p.Tyr661Phe) c.2078A>T (p.Tyr693Phe) | |
| 11 | g.68761581T>C | CA381626599 | CPT1A | c.1982A>G (p.Tyr661Cys) c.2078A>G (p.Tyr693Cys) | |
| 11 | g.68761581T>G | CA381626602 | CPT1A | c.1982A>C (p.Tyr661Ser) c.2078A>C (p.Tyr693Ser) | COSMIC COSMIC |
| 11 | g.68761582A>C | CA381626605 | CPT1A | c.1981T>G (p.Tyr661Asp) c.2077T>G (p.Tyr693Asp) | |
| 11 | g.68761582A>G | CA381626607 | CPT1A | c.1981T>C (p.Tyr661His) c.2077T>C (p.Tyr693His) | |
| 11 | g.68761582A>T | CA381626610 | CPT1A | c.1981T>A (p.Tyr661Asn) c.2077T>A (p.Tyr693Asn) | |
| 11 | g.68761583A>C | CA475182652 | CPT1A | c.1980T>G (p.Leu660=) c.2076T>G (p.Leu692=) | |
| 11 | g.68761583A>G | CA475182654 | CPT1A | c.1980T>C (p.Leu660=) c.2076T>C (p.Leu692=) | |
| 11 | g.68761583A>T | CA475182655 | CPT1A | c.1980T>A (p.Leu660=) c.2076T>A (p.Leu692=) | |
| 11 | g.68761584A>C | CA381626615 | CPT1A | c.1979T>G (p.Leu660Arg) c.2075T>G (p.Leu692Arg) | |
| 11 | g.68761584A>G | CA381626617 | CPT1A | c.1979T>C (p.Leu660Pro) c.2075T>C (p.Leu692Pro) | |
| 11 | g.68761584A>T | CA381626613 | CPT1A | c.1979T>A (p.Leu660His) c.2075T>A (p.Leu692His) | |
| 11 | g.68761585G>A | CA381626621 | CPT1A | c.1978C>T (p.Leu660Phe) c.2074C>T (p.Leu692Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68761585G>C | CA381626623 | CPT1A | c.1978C>G (p.Leu660Val) c.2074C>G (p.Leu692Val) | |
| 11 | g.68761585G>T | CA381626625 | CPT1A | c.1978C>A (p.Leu660Ile) c.2074C>A (p.Leu692Ile) | |
| 11 | g.68761586G>A | CA475182665 | CPT1A | c.1977C>T (p.Cys659=) c.2073C>T (p.Cys691=) | gnomAD v4 |
| 11 | g.68761586G>C | CA381626626 | CPT1A | c.1977C>G (p.Cys659Trp) c.2073C>G (p.Cys691Trp) | |
| 11 | g.68761586G>T | CA381626629 | CPT1A | c.1977C>A (p.Cys659Ter) c.2073C>A (p.Cys691Ter) | |
| 11 | g.68761587C>A | CA381626632 | CPT1A | c.1976G>T (p.Cys659Phe) c.2072G>T (p.Cys691Phe) | |
| 11 | g.68761587C>G | CA381626635 | CPT1A | c.1976G>C (p.Cys659Ser) c.2072G>C (p.Cys691Ser) | |
| 11 | g.68761587C>T | CA381626637 | CPT1A | c.1976G>A (p.Cys659Tyr) c.2072G>A (p.Cys691Tyr) | |
| 11 | g.68761588A>C | CA381626640 | CPT1A | c.1975T>G (p.Cys659Gly) c.2071T>G (p.Cys691Gly) | |
| 11 | g.68761588A>G | CA381626642 | CPT1A | c.1975T>C (p.Cys659Arg) c.2071T>C (p.Cys691Arg) | gnomAD v4 |
| 11 | g.68761588A>T | CA381626644 | CPT1A | c.1975T>A (p.Cys659Ser) c.2071T>A (p.Cys691Ser) | |
| 11 | g.68761589G>A | CA475182679 | CPT1A | c.1974C>T (p.Phe658=) c.2070C>T (p.Phe690=) | dbSNP |
| 11 | g.68761589G>C | CA381626646 | CPT1A | c.1974C>G (p.Phe658Leu) c.2070C>G (p.Phe690Leu) | |
| 11 | g.68761589G>T | CA381626647 | CPT1A | c.1974C>A (p.Phe658Leu) c.2070C>A (p.Phe690Leu) | |
| 11 | g.68761590A>C | CA381626650 | CPT1A | c.1973T>G (p.Phe658Cys) c.2069T>G (p.Phe690Cys) | |
| 11 | g.68761590A>G | CA381626649 | CPT1A | c.1973T>C (p.Phe658Ser) c.2069T>C (p.Phe690Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68761590A>T | CA381626648 | CPT1A | c.1973T>A (p.Phe658Tyr) c.2069T>A (p.Phe690Tyr) | |
| 11 | g.68761591A>C | CA381626651 | CPT1A | c.1972T>G (p.Phe658Val) c.2068T>G (p.Phe690Val) | |
| 11 | g.68761591A>G | CA381626652 | CPT1A | c.1972T>C (p.Phe658Leu) c.2068T>C (p.Phe690Leu) | |
| 11 | g.68761591A>T | CA381626653 | CPT1A | c.1972T>A (p.Phe658Ile) c.2068T>A (p.Phe690Ile) | |
| 11 | g.68761593_68761594del | CA2614731248 | CPT1A | c.1971_1972del (p.Phe658LeufsTer7) c.2067_2068del (p.Phe690LeufsTer7) | gnomAD v4 |
| 11 | g.68761592G>A | CA6152138 | CPT1A | c.1971C>T (p.Leu657=) c.2067C>T (p.Leu689=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761592G>C | CA475182691 | CPT1A | c.1971C>G (p.Leu657=) c.2067C>G (p.Leu689=) | |
| 11 | g.68761592G>T | CA475182693 | CPT1A | c.1971C>A (p.Leu657=) c.2067C>A (p.Leu689=) | |
| 11 | g.68761593A>C | CA381626654 | CPT1A | c.1970T>G (p.Leu657Arg) c.2066T>G (p.Leu689Arg) | |
| 11 | g.68761593A>G | CA381626655 | CPT1A | c.1970T>C (p.Leu657Pro) c.2066T>C (p.Leu689Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68761593A>T | CA381626656 | CPT1A | c.1970T>A (p.Leu657His) c.2066T>A (p.Leu689His) | |
| 11 | g.68761594G>A | CA381626657 | CPT1A | c.1969C>T (p.Leu657Phe) c.2065C>T (p.Leu689Phe) | gnomAD v4 |
| 11 | g.68761594G>C | CA381626658 | CPT1A | c.1969C>G (p.Leu657Val) c.2065C>G (p.Leu689Val) | |
| 11 | g.68761594G>T | CA381626659 | CPT1A | c.1969C>A (p.Leu657Ile) c.2065C>A (p.Leu689Ile) | |
| 11 | g.68761595G>A | CA475182701 | CPT1A | c.1968C>T (p.His656=) c.2064C>T (p.His688=) | ClinVar gnomAD v4 |
| 11 | g.68761595G>C | CA381626660 | CPT1A | c.1968C>G (p.His656Gln) c.2064C>G (p.His688Gln) | |
| 11 | g.68761595G>T | CA381626661 | CPT1A | c.1968C>A (p.His656Gln) c.2064C>A (p.His688Gln) | |
| 11 | g.68761596T>A | CA381626664 | CPT1A | c.1967A>T (p.His656Leu) c.2063A>T (p.His688Leu) | |
| 11 | g.68761596T>C | CA381626663 | CPT1A | c.1967A>G (p.His656Arg) c.2063A>G (p.His688Arg) | ClinVar dbSNP |
| 11 | g.68761596T>G | CA381626662 | CPT1A | c.1967A>C (p.His656Pro) c.2063A>C (p.His688Pro) | dbSNP |
| 11 | g.68761597G>A | CA381626665 | CPT1A | c.1966C>T (p.His656Tyr) c.2062C>T (p.His688Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761597G>C | CA381626667 | CPT1A | c.1966C>G (p.His656Asp) c.2062C>G (p.His688Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68761597G>T | CA381626666 | CPT1A | c.1966C>A (p.His656Asn) c.2062C>A (p.His688Asn) | COSMIC COSMIC |
| 11 | g.68761598A>C | CA475182714 | CPT1A | c.1965T>G (p.Arg655=) c.2061T>G (p.Arg687=) | |
| 11 | g.68761598A>G | CA475182713 | CPT1A | c.1965T>C (p.Arg655=) c.2061T>C (p.Arg687=) | |
| 11 | g.68761598A>T | CA475182711 | CPT1A | c.1965T>A (p.Arg655=) c.2061T>A (p.Arg687=) | |
| 11 | g.68761599C>A | CA381626668 | CPT1A | c.1964G>T (p.Arg655Leu) c.2060G>T (p.Arg687Leu) | |
| 11 | g.68761599C>G | CA381626669 | CPT1A | c.1964G>C (p.Arg655Pro) c.2060G>C (p.Arg687Pro) | |
| 11 | g.68761599C>T | CA6152139 | CPT1A | c.1964G>A (p.Arg655His) c.2060G>A (p.Arg687His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761600G>A | CA6152140 | CPT1A | c.1963C>T (p.Arg655Cys) c.2059C>T (p.Arg687Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68761600G>C | CA381626670 | CPT1A | c.1963C>G (p.Arg655Gly) c.2059C>G (p.Arg687Gly) | ClinVar gnomAD v4 |
| 11 | g.68761600G>T | CA381626671 | CPT1A | c.1963C>A (p.Arg655Ser) c.2059C>A (p.Arg687Ser) | dbSNP |
| 11 | g.68761601A>C | CA381626672 | CPT1A | c.1962T>G (p.Asp654Glu) c.2058T>G (p.Asp686Glu) | |
| 11 | g.68761601A>G | CA475182724 | CPT1A | c.1962T>C (p.Asp654=) c.2058T>C (p.Asp686=) | dbSNP |
| 11 | g.68761601A>T | CA381626673 | CPT1A | c.1962T>A (p.Asp654Glu) c.2058T>A (p.Asp686Glu) | |
| 11 | g.68761602T>A | CA381626674 | CPT1A | c.1961A>T (p.Asp654Val) c.2057A>T (p.Asp686Val) | |
| 11 | g.68761602T>C | CA381626675 | CPT1A | c.1961A>G (p.Asp654Gly) c.2057A>G (p.Asp686Gly) | |
| 11 | g.68761602T>G | CA381626676 | CPT1A | c.1961A>C (p.Asp654Ala) c.2057A>C (p.Asp686Ala) | |
| 11 | g.68761603C>A | CA381626677 | CPT1A | c.1960G>T (p.Asp654Tyr) c.2056G>T (p.Asp686Tyr) | gnomAD v4 |
| 11 | g.68761603C>G | CA381626678 | CPT1A | c.1960G>C (p.Asp654His) c.2056G>C (p.Asp686His) | |
| 11 | g.68761603C>T | CA381626679 | CPT1A | c.1960G>A (p.Asp654Asn) c.2056G>A (p.Asp686Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68761604G>A | CA6152141 | CPT1A | c.1959C>T (p.Ile653=) c.2055C>T (p.Ile685=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68761604G>C | CA381626680 | CPT1A | c.1959C>G (p.Ile653Met) c.2055C>G (p.Ile685Met) | |
| 11 | g.68761604G>T | CA475182733 | CPT1A | c.1959C>A (p.Ile653=) c.2055C>A (p.Ile685=) | gnomAD v4 |
| 11 | g.68761605A>C | CA381626681 | CPT1A | c.1958T>G (p.Ile653Ser) c.2054T>G (p.Ile685Ser) | |
| 11 | g.68761605A>G | CA6152142 | CPT1A | c.1958T>C (p.Ile653Thr) c.2054T>C (p.Ile685Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761605A>T | CA381626682 | CPT1A | c.1958T>A (p.Ile653Asn) c.2054T>A (p.Ile685Asn) | |
| 11 | g.68761606T>A | CA381626683 | CPT1A | c.1957A>T (p.Ile653Phe) c.2053A>T (p.Ile685Phe) | |
| 11 | g.68761606T>C | CA381626684 | CPT1A | c.1957A>G (p.Ile653Val) c.2053A>G (p.Ile685Val) | |
| 11 | g.68761606T>G | CA381626685 | CPT1A | c.1957A>C (p.Ile653Leu) c.2053A>C (p.Ile685Leu) | |
| 11 | g.68761607C>A | CA475182742 | CPT1A | c.1956G>T (p.Gly652=) c.2052G>T (p.Gly684=) | |
| 11 | g.68761607C>G | CA475182743 | CPT1A | c.1956G>C (p.Gly652=) c.2052G>C (p.Gly684=) | |
| 11 | g.68761607C>T | CA475182744 | CPT1A | c.1956G>A (p.Gly652=) c.2052G>A (p.Gly684=) | dbSNP |
| 11 | g.68761608C>A | CA381626686 | CPT1A | c.1955G>T (p.Gly652Val) c.2051G>T (p.Gly684Val) | |
| 11 | g.68761608C>G | CA381626687 | CPT1A | c.1955G>C (p.Gly652Ala) c.2051G>C (p.Gly684Ala) | dbSNP |
| 11 | g.68761608C>T | CA381626688 | CPT1A | c.1955G>A (p.Gly652Glu) c.2051G>A (p.Gly684Glu) | |
| 11 | g.68761609C>A | CA381626689 | CPT1A | c.1954G>T (p.Gly652Trp) c.2050G>T (p.Gly684Trp) | |
| 11 | g.68761609C>G | CA381626690 | CPT1A | c.1954G>C (p.Gly652Arg) c.2050G>C (p.Gly684Arg) | |
| 11 | g.68761609C>T | CA381626691 | CPT1A | c.1954G>A (p.Gly652Arg) c.2050G>A (p.Gly684Arg) | |
| 11 | g.68761610A>C | CA475182753 | CPT1A | c.1953T>G (p.Ser651=) c.2049T>G (p.Ser683=) | |
| 11 | g.68761610A>G | CA475182754 | CPT1A | c.1953T>C (p.Ser651=) c.2049T>C (p.Ser683=) | gnomAD v4 |
| 11 | g.68761610A>T | CA475182755 | CPT1A | c.1953T>A (p.Ser651=) c.2049T>A (p.Ser683=) | |
| 11 | g.68761611G>A | CA381626694 | CPT1A | c.1952C>T (p.Ser651Phe) c.2048C>T (p.Ser683Phe) | |
| 11 | g.68761611G>C | CA381626693 | CPT1A | c.1952C>G (p.Ser651Cys) c.2048C>G (p.Ser683Cys) | |
| 11 | g.68761611G>T | CA381626692 | CPT1A | c.1952C>A (p.Ser651Tyr) c.2048C>A (p.Ser683Tyr) | |
| 11 | g.68761612A>C | CA381626695 | CPT1A | c.1951T>G (p.Ser651Ala) c.2047T>G (p.Ser683Ala) | |
| 11 | g.68761612A>G | CA381626696 | CPT1A | c.1951T>C (p.Ser651Pro) c.2047T>C (p.Ser683Pro) | |
| 11 | g.68761612A>T | CA381626697 | CPT1A | c.1951T>A (p.Ser651Thr) c.2047T>A (p.Ser683Thr) | |
| 11 | g.68761613G>A | CA475182766 | CPT1A | c.1950C>T (p.Gly650=) c.2046C>T (p.Gly682=) | |
| 11 | g.68761613G>C | CA475182764 | CPT1A | c.1950C>G (p.Gly650=) c.2046C>G (p.Gly682=) | |
| 11 | g.68761613G>T | CA475182763 | CPT1A | c.1950C>A (p.Gly650=) c.2046C>A (p.Gly682=) | |
| 11 | g.68761614C>A | CA381626698 | CPT1A | c.1949G>T (p.Gly650Val) c.2045G>T (p.Gly682Val) | COSMIC COSMIC |
| 11 | g.68761614C>G | CA381626699 | CPT1A | c.1949G>C (p.Gly650Ala) c.2045G>C (p.Gly682Ala) | |
| 11 | g.68761614C>T | CA381626700 | CPT1A | c.1949G>A (p.Gly650Asp) c.2045G>A (p.Gly682Asp) | |
| 11 | g.68761615C>A | CA381626701 | CPT1A | c.1948G>T (p.Gly650Cys) c.2044G>T (p.Gly682Cys) | gnomAD v4 |
| 11 | g.68761615C>G | CA381626702 | CPT1A | c.1948G>C (p.Gly650Arg) c.2044G>C (p.Gly682Arg) | |
| 11 | g.68761615C>T | CA6152143 | CPT1A | c.1948G>A (p.Gly650Ser) c.2044G>A (p.Gly682Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.68761616G>A | CA6152144 | CPT1A | c.1947C>T (p.Thr649=) c.2043C>T (p.Thr681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761616G>C | CA475182776 | CPT1A | c.1947C>G (p.Thr649=) c.2043C>G (p.Thr681=) | ClinVar dbSNP |
| 11 | g.68761616G>T | CA475182779 | CPT1A | c.1947C>A (p.Thr649=) c.2043C>A (p.Thr681=) | gnomAD v4 |
| 11 | g.68761617G>A | CA381626703 | CPT1A | c.1946C>T (p.Thr649Ile) c.2042C>T (p.Thr681Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68761617G>C | CA381626704 | CPT1A | c.1946C>G (p.Thr649Ser) c.2042C>G (p.Thr681Ser) | |
| 11 | g.68761617G>T | CA381626705 | CPT1A | c.1946C>A (p.Thr649Asn) c.2042C>A (p.Thr681Asn) | COSMIC COSMIC |
| 11 | g.68761618T>A | CA381626707 | CPT1A | c.1945A>T (p.Thr649Ser) c.2041A>T (p.Thr681Ser) | |
| 11 | g.68761618T>C | CA6152145 | CPT1A | c.1945A>G (p.Thr649Ala) c.2041A>G (p.Thr681Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761618T>G | CA381626706 | CPT1A | c.1945A>C (p.Thr649Pro) c.2041A>C (p.Thr681Pro) | dbSNP |
| 11 | g.68761619C>A | CA223366413 | CPT1A | c.1944G>T (p.Met648Ile) c.2040G>T (p.Met680Ile) | dbSNP gnomAD v4 |
| 11 | g.68761619C>G | CA381626708 | CPT1A | c.1944G>C (p.Met648Ile) c.2040G>C (p.Met680Ile) | |
| 11 | g.68761619C>T | CA381626709 | CPT1A | c.1944G>A (p.Met648Ile) c.2040G>A (p.Met680Ile) | |
| 11 | g.68761620A>C | CA381626710 | CPT1A | c.1943T>G (p.Met648Arg) c.2039T>G (p.Met680Arg) | |
| 11 | g.68761620A>G | CA381626711 | CPT1A | c.1943T>C (p.Met648Thr) c.2039T>C (p.Met680Thr) | gnomAD v4 |
| 11 | g.68761620A>T | CA381626712 | CPT1A | c.1943T>A (p.Met648Lys) c.2039T>A (p.Met680Lys) | |
| 11 | g.68761621T>A | CA381626713 | CPT1A | c.1942A>T (p.Met648Leu) c.2038A>T (p.Met680Leu) | |
| 11 | g.68761621T>C | CA6152146 | CPT1A | c.1942A>G (p.Met648Val) c.2038A>G (p.Met680Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761621T>G | CA381626714 | CPT1A | c.1942A>C (p.Met648Leu) c.2038A>C (p.Met680Leu) | |
| 11 | g.68761622G>A | CA6152147 | CPT1A | c.1941C>T (p.Ala647=) c.2037C>T (p.Ala679=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68761622G>C | CA312407 | CPT1A | c.1941C>G (p.Ala647=) c.2037C>G (p.Ala679=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761622G>T | CA475182798 | CPT1A | c.1941C>A (p.Ala647=) c.2037C>A (p.Ala679=) | |
| 11 | g.68761623G>A | CA381626717 | CPT1A | c.1940C>T (p.Ala647Val) c.2036C>T (p.Ala679Val) | |
| 11 | g.68761623G>C | CA381626716 | CPT1A | c.1940C>G (p.Ala647Gly) c.2036C>G (p.Ala679Gly) | |
| 11 | g.68761623G>T | CA381626715 | CPT1A | c.1940C>A (p.Ala647Asp) c.2036C>A (p.Ala679Asp) | |
| 11 | g.68761624C>A | CA381626718 | CPT1A | c.1939G>T (p.Ala647Ser) c.2035G>T (p.Ala679Ser) | |
| 11 | g.68761624C>G | CA381626719 | CPT1A | c.1939G>C (p.Ala647Pro) c.2035G>C (p.Ala679Pro) | |
| 11 | g.68761624C>T | CA6152148 | CPT1A | c.1939G>A (p.Ala647Thr) c.2035G>A (p.Ala679Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68761625G>A | CA6152149 | CPT1A | c.1938C>T (p.Leu646=) c.2034C>T (p.Leu678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68761625G>C | CA475182808 | CPT1A | c.1938C>G (p.Leu646=) c.2034C>G (p.Leu678=) | |
| 11 | g.68761625G>T | CA475182810 | CPT1A | c.1938C>A (p.Leu646=) c.2034C>A (p.Leu678=) | ClinVar |
| 11 | g.68761626A>C | CA381626720 | CPT1A | c.1937T>G (p.Leu646Arg) c.2033T>G (p.Leu678Arg) | |
| 11 | g.68761626A>G | CA381626721 | CPT1A | c.1937T>C (p.Leu646Pro) c.2033T>C (p.Leu678Pro) | |
| 11 | g.68761626A>T | CA381626722 | CPT1A | c.1937T>A (p.Leu646His) c.2033T>A (p.Leu678His) |