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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42184561C= | CA2260368448 | HCRT | c.22-33G= (n.22-33G=) | |
| 17 | g.42184561C>T | CA2260368449 | HCRT | c.22-33G>A (n.22-33G>A) | dbSNP |
| 17 | g.42184562T>A | CA2637931041 | HCRT | c.22-34A>T (n.22-34A>T) | gnomAD v4 |
| 17 | g.42184562T>C | CA626041357 | HCRT | c.22-34A>G (n.22-34A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42184562T= | CA2260368450 | HCRT | c.22-34A= (n.22-34A=) | |
| 17 | g.42184563T>C | CA290717942 | HCRT | c.22-35A>G (n.22-35A>G) | dbSNP gnomAD v4 COSMIC |
| 17 | g.42184563T>G | CA2809514607 | HCRT | c.22-35A>C (n.22-35A>C) | |
| 17 | g.42184563T= | CA2260368451 | HCRT | c.22-35A= (n.22-35A=) | |
| 17 | g.42184564C>A | CA290717943 | HCRT | c.22-36G>T (n.22-36G>T) | dbSNP gnomAD v4 |
| 17 | g.42184564C= | CA2260368452 | HCRT | c.22-36G= (n.22-36G=) | |
| 17 | g.42184564C>T | CA290717944 | HCRT | c.22-36G>A (n.22-36G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184565C>A | CA2637931042 | HCRT | c.22-37G>T (n.22-37G>T) | gnomAD v4 |
| 17 | g.42184565C>T | CA2576273574 | HCRT | c.22-37G>A (n.22-37G>A) | gnomAD v4 |
| 17 | g.42184566C= | CA2260368453 | HCRT | c.22-38G= (n.22-38G=) | |
| 17 | g.42184566C>T | CA626041360 | HCRT | c.22-38G>A (n.22-38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184567A= | CA2260368454 | HCRT | c.22-39T= (n.22-39T=) | |
| 17 | g.42184567A>C | CA2733697514 | HCRT | c.22-39T>G (n.22-39T>G) | dbSNP |
| 17 | g.42184567A>G | CA2260368455 | HCRT | c.22-39T>C (n.22-39T>C) | dbSNP |
| 17 | g.42184567A>T | CA2637931043 | HCRT | c.22-39T>A (n.22-39T>A) | gnomAD v4 |
| 17 | g.42184568C>A | CA2637931045 | HCRT | c.22-40G>T (n.22-40G>T) | gnomAD v4 |
| 17 | g.42184568C= | CA2260368456 | HCRT | c.22-40G= (n.22-40G=) | |
| 17 | g.42184568C>T | CA626041361 | HCRT | c.22-40G>A (n.22-40G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42184568dup | CA2637931044 | HCRT | c.22-40dup (n.22-40dup) | gnomAD v4 |
| 17 | g.42184569G>A | CA772085928 | HCRT | c.22-41C>T (n.22-41C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184569G>C | CA8573290 | HCRT | c.22-41C>G (n.22-41C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42184569G= | CA2260368457 | HCRT | c.22-41C= (n.22-41C=) | |
| 17 | g.42184570G>A | CA2637931046 | HCRT | c.22-42C>T (n.22-42C>T) | gnomAD v4 |
| 17 | g.42184571C>A | CA2637931047 | HCRT | c.22-43G>T (n.22-43G>T) | gnomAD v4 |
| 17 | g.42184571C>T | CA2637931048 | HCRT | c.22-43G>A (n.22-43G>A) | gnomAD v4 |
| 17 | g.42184572G>A | CA626041363 | HCRT | c.22-44C>T (n.22-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184572G>C | CA2637931049 | HCRT | c.22-44C>G (n.22-44C>G) | gnomAD v4 |
| 17 | g.42184572G= | CA2260368458 | HCRT | c.22-44C= (n.22-44C=) | |
| 17 | g.42184572G>T | CA2637931050 | HCRT | c.22-44C>A (n.22-44C>A) | gnomAD v4 |
| 17 | g.42184574C>T | CA2637931051 | HCRT | c.22-46G>A (n.22-46G>A) | gnomAD v4 |
| 17 | g.42184575C>A | CA983804227 | HCRT | c.22-47G>T (n.22-47G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184575C= | CA2260368459 | HCRT | c.22-47G= (n.22-47G=) | |
| 17 | g.42184575C>G | CA2637931052 | HCRT | c.22-47G>C (n.22-47G>C) | gnomAD v4 |
| 17 | g.42184575C>T | CA2576273575 | HCRT | c.22-47G>A (n.22-47G>A) | gnomAD v4 |
| 17 | g.42184576G>A | CA2260368460 | HCRT | c.22-48C>T (n.22-48C>T) | dbSNP gnomAD v4 |
| 17 | g.42184576G>C | CA2733697520 | HCRT | c.22-48C>G (n.22-48C>G) | dbSNP |
| 17 | g.42184576G= | CA2260368461 | HCRT | c.22-48C= (n.22-48C=) | |
| 17 | g.42184577C>A | CA290717945 | HCRT | c.22-49G>T (n.22-49G>T) | dbSNP gnomAD v4 |
| 17 | g.42184577C= | CA2260368462 | HCRT | c.22-49G= (n.22-49G=) | |
| 17 | g.42184578C= | CA2260368463 | HCRT | c.22-50G= (n.22-50G=) | |
| 17 | g.42184578C>T | CA8573291 | HCRT | c.22-50G>A (n.22-50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42184579A= | CA2260368464 | HCRT | c.22-51T= (n.22-51T=) | |
| 17 | g.42184579A>C | CA2260368465 | HCRT | c.22-51T>G (n.22-51T>G) | dbSNP gnomAD v4 |
| 17 | g.42184579A>G | CA2637931053 | HCRT | c.22-51T>C (n.22-51T>C) | gnomAD v4 |
| 17 | g.42184582A= | CA2260368466 | HCRT | c.22-54T= (n.22-54T=) | |
| 17 | g.42184582A>G | CA290717947 | HCRT | c.22-54T>C (n.22-54T>C) | dbSNP gnomAD v4 |
| 17 | g.42184583G>A | CA2637931054 | HCRT | c.22-55C>T (n.22-55C>T) | gnomAD v4 |
| 17 | g.42184584C>A | CA2637931055 | HCRT | c.22-56G>T (n.22-56G>T) | gnomAD v4 |
| 17 | g.42184584C= | CA2260368467 | HCRT | c.22-56G= (n.22-56G=) | |
| 17 | g.42184584C>T | CA2260368468 | HCRT | c.22-56G>A (n.22-56G>A) | dbSNP gnomAD v4 |
| 17 | g.42184586C>G | CA2637931056 | HCRT | c.22-58G>C (n.22-58G>C) | gnomAD v4 |
| 17 | g.42184586C>T | CA2576273576 | HCRT | c.22-58G>A (n.22-58G>A) | |
| 17 | g.42184587C>A | CA2637931057 | HCRT | c.22-59G>T (n.22-59G>T) | gnomAD v4 |
| 17 | g.42184587C>T | CA2637931058 | HCRT | c.22-59G>A (n.22-59G>A) | gnomAD v4 |
| 17 | g.42184588C>T | CA2637931059 | HCRT | c.22-60G>A (n.22-60G>A) | gnomAD v4 |
| 17 | g.42184590C>A | CA2637931060 | HCRT | c.22-62G>T (n.22-62G>T) | gnomAD v4 |
| 17 | g.42184590C= | CA2260368469 | HCRT | c.22-62G= (n.22-62G=) | |
| 17 | g.42184590C>T | CA2260368470 | HCRT | c.22-62G>A (n.22-62G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184591G>A | CA2637931061 | HCRT | c.22-63C>T (n.22-63C>T) | gnomAD v4 |
| 17 | g.42184591G= | CA2260368471 | HCRT | c.22-63C= (n.22-63C=) | |
| 17 | g.42184591G>T | CA983804235 | HCRT | c.22-63C>A (n.22-63C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184592C>A | CA983804244 | HCRT | c.22-64G>T (n.22-64G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184592C= | CA2260368472 | HCRT | c.22-64G= (n.22-64G=) | |
| 17 | g.42184592C>T | CA2637931063 | HCRT | c.22-64G>A (n.22-64G>A) | gnomAD v4 |
| 17 | g.42184594del | CA2637931062 | HCRT | c.22-64del (n.22-64del) | gnomAD v4 |
| 17 | g.42184594C>A | CA2809514608 | HCRT | c.22-66G>T (n.22-66G>T) | |
| 17 | g.42184595A= | CA2260368473 | HCRT | c.22-67T= (n.22-67T=) | |
| 17 | g.42184595A>G | CA290717948 | HCRT | c.22-67T>C (n.22-67T>C) | dbSNP gnomAD v4 |
| 17 | g.42184596G>A | CA772085949 | HCRT | c.22-68C>T (n.22-68C>T) | dbSNP gnomAD v4 |
| 17 | g.42184596G= | CA2260368474 | HCRT | c.22-68C= (n.22-68C=) | |
| 17 | g.42184596G>T | CA2576273577 | HCRT | c.22-68C>A (n.22-68C>A) | |
| 17 | g.42184597G>C | CA290717949 | HCRT | c.22-69C>G (n.22-69C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184597G= | CA2260368475 | HCRT | c.22-69C= (n.22-69C=) | |
| 17 | g.42184597G>T | CA2637931064 | HCRT | c.22-69C>A (n.22-69C>A) | gnomAD v4 |
| 17 | g.42184598A>G | CA2637931065 | HCRT | c.22-70T>C (n.22-70T>C) | gnomAD v4 |
| 17 | g.42184599C>A | CA290717952 | HCRT | c.22-71G>T (n.22-71G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184599C= | CA2260368476 | HCRT | c.22-71G= (n.22-71G=) | |
| 17 | g.42184600C>A | CA2637931066 | HCRT | c.22-72G>T (n.22-72G>T) | gnomAD v4 |
| 17 | g.42184601T>A | CA2637931067 | HCRT | c.22-73A>T (n.22-73A>T) | gnomAD v4 |
| 17 | g.42184601T>C | CA2637931068 | HCRT | c.22-73A>G (n.22-73A>G) | gnomAD v4 |
| 17 | g.42184602G>C | CA2260368478 | HCRT | c.22-74C>G (n.22-74C>G) | dbSNP |
| 17 | g.42184602G= | CA2260368477 | HCRT | c.22-74C= (n.22-74C=) | |
| 17 | g.42184602G>T | CA2637931069 | HCRT | c.22-74C>A (n.22-74C>A) | gnomAD v4 |
| 17 | g.42184603C>A | CA2637931070 | HCRT | c.22-75G>T (n.22-75G>T) | gnomAD v4 |
| 17 | g.42184606dup | CA2576273578 | HCRT | c.22-75dup (n.22-75dup) | |
| 17 | g.42184604C>G | CA2576273579 | HCRT | c.22-76G>C (n.22-76G>C) | gnomAD v4 |
| 17 | g.42184604C>T | CA2838825228 | HCRT | c.22-76G>A (n.22-76G>A) | |
| 17 | g.42184605C= | CA2260368479 | HCRT | c.22-77G= (n.22-77G=) | |
| 17 | g.42184605C>T | CA2260368480 | HCRT | c.22-77G>A (n.22-77G>A) | dbSNP gnomAD v4 |
| 17 | g.42184606C>A | CA2637931071 | HCRT | c.22-78G>T (n.22-78G>T) | gnomAD v4 |
| 17 | g.42184606C= | CA2260368481 | HCRT | c.22-78G= (n.22-78G=) | |
| 17 | g.42184606C>G | CA2260368482 | HCRT | c.22-78G>C (n.22-78G>C) | dbSNP |
| 17 | g.42184606C>T | CA290717953 | HCRT | c.22-78G>A (n.22-78G>A) | dbSNP gnomAD v4 |
| 17 | g.42184607T>C | CA2637931072 | HCRT | c.22-79A>G (n.22-79A>G) | gnomAD v4 |
| 17 | g.42184608C>A | CA2637931073 | HCRT | c.22-80G>T (n.22-80G>T) | gnomAD v4 |
| 17 | g.42184608C>T | CA2637931074 | HCRT | c.22-80G>A (n.22-80G>A) | gnomAD v4 |
| 17 | g.42184609T>A | CA2260368484 | HCRT | c.22-81A>T (n.22-81A>T) | dbSNP |
| 17 | g.42184609T>G | CA2637931075 | HCRT | c.22-81A>C (n.22-81A>C) | gnomAD v4 |
| 17 | g.42184609T= | CA2260368483 | HCRT | c.22-81A= (n.22-81A=) | |
| 17 | g.42184610G>A | CA2637931076 | HCRT | c.22-82C>T (n.22-82C>T) | gnomAD v4 |
| 17 | g.42184610G= | CA2260368485 | HCRT | c.22-82C= (n.22-82C=) | |
| 17 | g.42184610G>T | CA772085952 | HCRT | c.22-82C>A (n.22-82C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184611G>T | CA2637931077 | HCRT | c.22-83C>A (n.22-83C>A) | gnomAD v4 |
| 17 | g.42184611_42184617delinsGCTCCGC | CA2260368486 | HCRT | c.22-89_22-83delinsGCGGAGC (n.22-89_22-83delinsGCGGAGC) | |
| 17 | g.42184612C>A | CA2637931079 | HCRT | c.22-84G>T (n.22-84G>T) | gnomAD v4 |
| 17 | g.42184612C>T | CA2637931078 | HCRT | c.22-84G>A (n.22-84G>A) | gnomAD v4 |
| 17 | g.42184612_42184617del | CA290717955 | HCRT | c.22-89_22-84del (n.22-89_22-84del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184614C>A | CA2637931080 | HCRT | c.22-86G>T (n.22-86G>T) | gnomAD v4 |
| 17 | g.42184614C>T | CA2637931081 | HCRT | c.22-86G>A (n.22-86G>A) | gnomAD v4 |
| 17 | g.42184615C>A | CA2637931082 | HCRT | c.22-87G>T (n.22-87G>T) | gnomAD v4 |
| 17 | g.42184615C>T | CA2637931083 | HCRT | c.22-87G>A (n.22-87G>A) | gnomAD v4 |
| 17 | g.42184616G>A | CA2637931084 | HCRT | c.22-88C>T (n.22-88C>T) | gnomAD v4 |
| 17 | g.42184616G>T | CA2637931085 | HCRT | c.22-88C>A (n.22-88C>A) | gnomAD v4 |
| 17 | g.42184617C>A | CA2637931086 | HCRT | c.22-89G>T (n.22-89G>T) | gnomAD v4 |
| 17 | g.42184617C>G | CA2637931087 | HCRT | c.22-89G>C (n.22-89G>C) | gnomAD v4 |
| 17 | g.42184617C>T | CA2637931088 | HCRT | c.22-89G>A (n.22-89G>A) | gnomAD v4 |
| 17 | g.42184618G>A | CA772085956 | HCRT | c.22-90C>T (n.22-90C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184618G>C | CA2637931089 | HCRT | c.22-90C>G (n.22-90C>G) | gnomAD v4 |
| 17 | g.42184618G= | CA2260368487 | HCRT | c.22-90C= (n.22-90C=) | |
| 17 | g.42184618G>T | CA772085957 | HCRT | c.22-90C>A (n.22-90C>A) | dbSNP gnomAD v4 |
| 17 | g.42184619C>A | CA2637931091 | HCRT | c.22-91G>T (n.22-91G>T) | gnomAD v4 |
| 17 | g.42184619C>T | CA2637931092 | HCRT | c.22-91G>A (n.22-91G>A) | gnomAD v4 |
| 17 | g.42184623del | CA2637931090 | HCRT | c.22-91del (n.22-91del) | gnomAD v4 |
| 17 | g.42184620C>A | CA2637931093 | HCRT | c.22-92G>T (n.22-92G>T) | gnomAD v4 |
| 17 | g.42184621C>A | CA2637931094 | HCRT | c.22-93G>T (n.22-93G>T) | gnomAD v4 |
| 17 | g.42184621C>T | CA2637931095 | HCRT | c.22-93G>A (n.22-93G>A) | gnomAD v4 |
| 17 | g.42184622C>A | CA2843347152 | HCRT | c.22-94G>T (n.22-94G>T) | |
| 17 | g.42184622C>T | CA2637931096 | HCRT | c.22-94G>A (n.22-94G>A) | gnomAD v4 |
| 17 | g.42184623C>T | CA2576273580 | HCRT | c.22-95G>A (n.22-95G>A) | gnomAD v4 |
| 17 | g.42184624T>C | CA2637931097 | HCRT | c.22-96A>G (n.22-96A>G) | gnomAD v4 |
| 17 | g.42184625C= | CA2260368488 | HCRT | c.22-97G= (n.22-97G=) | |
| 17 | g.42184625C>G | CA290717957 | HCRT | c.22-97G>C (n.22-97G>C) | dbSNP gnomAD v4 |
| 17 | g.42184625C>T | CA290717958 | HCRT | c.22-97G>A (n.22-97G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184626C>A | CA2637931098 | HCRT | c.22-98G>T (n.22-98G>T) | gnomAD v4 |
| 17 | g.42184626C= | CA2260368489 | HCRT | c.22-98G= (n.22-98G=) | |
| 17 | g.42184626C>G | CA772085961 | HCRT | c.22-98G>C (n.22-98G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184627A= | CA2260368490 | HCRT | c.22-99T= (n.22-99T=) | |
| 17 | g.42184627A>C | CA2809514609 | HCRT | c.22-99T>G (n.22-99T>G) | |
| 17 | g.42184627A>G | CA2260368491 | HCRT | c.22-99T>C (n.22-99T>C) | dbSNP gnomAD v4 |
| 17 | g.42184628A= | CA2260368492 | HCRT | c.22-100T= (n.22-100T=) | |
| 17 | g.42184628A>G | CA772085966 | HCRT | c.22-100T>C (n.22-100T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184629G>A | CA772085968 | HCRT | c.22-101C>T (n.22-101C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184629G= | CA2260368493 | HCRT | c.22-101C= (n.22-101C=) | |
| 17 | g.42184629G>T | CA2260368494 | HCRT | c.22-101C>A (n.22-101C>A) | dbSNP gnomAD v4 |
| 17 | g.42184630C>A | CA290717960 | HCRT | c.22-102G>T (n.22-102G>T) | dbSNP gnomAD v4 |
| 17 | g.42184630C= | CA2260368495 | HCRT | c.22-102G= (n.22-102G=) | |
| 17 | g.42184630C>T | CA290717961 | HCRT | c.22-102G>A (n.22-102G>A) | dbSNP gnomAD v4 |
| 17 | g.42184631C>A | CA2637931099 | HCRT | c.22-103G>T (n.22-103G>T) | gnomAD v4 |
| 17 | g.42184631C>T | CA2637931100 | HCRT | c.22-103G>A (n.22-103G>A) | gnomAD v4 |
| 17 | g.42184631_42184632insAGAAAGGAG | CA2637931102 | HCRT | c.22-104_22-103insCTCCTTTCT (n.22-104_22-103insCTCCTTTCT) | gnomAD v4 |
| 17 | g.42184632T>A | CA290717962 | HCRT | c.22-104A>T (n.22-104A>T) | dbSNP gnomAD v4 |
| 17 | g.42184632T>C | CA2637931101 | HCRT | c.22-104A>G (n.22-104A>G) | gnomAD v4 |
| 17 | g.42184632T= | CA2260368496 | HCRT | c.22-104A= (n.22-104A=) | |
| 17 | g.42184633G>A | CA2637931103 | HCRT | c.22-105C>T (n.22-105C>T) | gnomAD v4 |
| 17 | g.42184633G>T | CA2637931104 | HCRT | c.22-105C>A (n.22-105C>A) | gnomAD v4 |
| 17 | g.42184634C>A | CA2637931105 | HCRT | c.22-106G>T (n.22-106G>T) | gnomAD v4 |
| 17 | g.42184634C>T | CA2637931106 | HCRT | c.22-106G>A (n.22-106G>A) | gnomAD v4 |
| 17 | g.42184636C>A | CA2637931107 | HCRT | c.22-108G>T (n.22-108G>T) | gnomAD v4 |
| 17 | g.42184636C>T | CA2637931108 | HCRT | c.22-108G>A (n.22-108G>A) | gnomAD v4 |
| 17 | g.42184637T>A | CA2637931109 | HCRT | c.22-109A>T (n.22-109A>T) | gnomAD v4 |
| 17 | g.42184637T>C | CA2637931110 | HCRT | c.22-109A>G (n.22-109A>G) | gnomAD v4 |
| 17 | g.42184638C>A | CA2637931111 | HCRT | c.22-110G>T (n.22-110G>T) | gnomAD v4 |
| 17 | g.42184639C= | CA2260368497 | HCRT | c.22-111G= (n.22-111G=) | |
| 17 | g.42184639C>G | CA2637931112 | HCRT | c.22-111G>C (n.22-111G>C) | gnomAD v4 |
| 17 | g.42184639C>T | CA290717963 | HCRT | c.22-111G>A (n.22-111G>A) | dbSNP gnomAD v4 |
| 17 | g.42184640T>C | CA2637931113 | HCRT | c.22-112A>G (n.22-112A>G) | gnomAD v4 |
| 17 | g.42184642T>C | CA2809514610 | HCRT | c.22-114A>G (n.22-114A>G) | |
| 17 | g.42184643C>A | CA2637931114 | HCRT | c.22-115G>T (n.22-115G>T) | gnomAD v4 |
| 17 | g.42184643C>T | CA2637931115 | HCRT | c.22-115G>A (n.22-115G>A) | gnomAD v4 |
| 17 | g.42184644T>A | CA290717964 | HCRT | c.22-116A>T (n.22-116A>T) | dbSNP |
| 17 | g.42184644T>C | CA2809514611 | HCRT | c.22-116A>G (n.22-116A>G) | |
| 17 | g.42184644T= | CA2260368498 | HCRT | c.22-116A= (n.22-116A=) | |
| 17 | g.42184645G>A | CA2637931116 | HCRT | c.22-117C>T (n.22-117C>T) | gnomAD v4 |
| 17 | g.42184645G>T | CA2637931117 | HCRT | c.22-117C>A (n.22-117C>A) | gnomAD v4 |
| 17 | g.42184646G>A | CA2637931118 | HCRT | c.22-118C>T (n.22-118C>T) | gnomAD v4 |
| 17 | g.42184646G>C | CA2637931119 | HCRT | c.22-118C>G (n.22-118C>G) | gnomAD v4 |
| 17 | g.42184646G>T | CA2637931120 | HCRT | c.22-118C>A (n.22-118C>A) | gnomAD v4 |
| 17 | g.42184647C>A | CA2637931121 | HCRT | c.22-119G>T (n.22-119G>T) | gnomAD v4 |
| 17 | g.42184647C>T | CA2637931122 | HCRT | c.22-119G>A (n.22-119G>A) | gnomAD v4 |
| 17 | g.42184648T>C | CA290717965 | HCRT | c.22-120A>G (n.22-120A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184648T= | CA2260368499 | HCRT | c.22-120A= (n.22-120A=) | |
| 17 | g.42184649G>A | CA290717967 | HCRT | c.22-121C>T (n.22-121C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184649G= | CA2260368500 | HCRT | c.22-121C= (n.22-121C=) | |
| 17 | g.42184649G>T | CA2637931123 | HCRT | c.22-121C>A (n.22-121C>A) | gnomAD v4 |
| 17 | g.42184651C>A | CA2637931124 | HCRT | c.22-123G>T (n.22-123G>T) | gnomAD v4 |
| 17 | g.42184651C= | CA2260368501 | HCRT | c.22-123G= (n.22-123G=) | |
| 17 | g.42184651C>G | CA290717968 | HCRT | c.22-123G>C (n.22-123G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42184651_42184655delinsCACTT | CA2260368502 | HCRT | c.22-127_22-123delinsAAGTG (n.22-127_22-123delinsAAGTG) | |
| 17 | g.42184652A>G | CA2637931125 | HCRT | c.22-124T>C (n.22-124T>C) | gnomAD v4 |
| 17 | g.42184653_42184656del | CA983804258 | HCRT | c.22-127_22-124del (n.22-127_22-124del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184653C>A | CA2637931127 | HCRT | c.22-125G>T (n.22-125G>T) | gnomAD v4 |
| 17 | g.42184653C>G | CA2637931126 | HCRT | c.22-125G>C (n.22-125G>C) | gnomAD v4 |
| 17 | g.42184654T>C | CA2637931128 | HCRT | c.22-126A>G (n.22-126A>G) | gnomAD v4 |
| 17 | g.42184655T>C | CA2637931129 | HCRT | c.22-127A>G (n.22-127A>G) | gnomAD v4 |
| 17 | g.42184657G>T | CA2637931130 | HCRT | c.22-129C>A (n.22-129C>A) | gnomAD v4 |
| 17 | g.42184658T>A | CA2637931131 | HCRT | c.22-130A>T (n.22-130A>T) | gnomAD v4 |
| 17 | g.42184659_42184662delinsTCTC | CA2260368503 | HCRT | c.22-134_22-131delinsGAGA (n.22-134_22-131delinsGAGA) | |
| 17 | g.42184660C>A | CA2637931132 | HCRT | c.22-132G>T (n.22-132G>T) | gnomAD v4 |
| 17 | g.42184660C= | CA2260368504 | HCRT | c.22-132G= (n.22-132G=) | |
| 17 | g.42184660C>T | CA772085983 | HCRT | c.22-132G>A (n.22-132G>A) | dbSNP gnomAD v4 |
| 17 | g.42184662_42184664del | CA772085987 | HCRT | c.22-134_22-132del (n.22-134_22-132del) | dbSNP gnomAD v4 |
| 17 | g.42184661T>A | CA2637931133 | HCRT | c.22-133A>T (n.22-133A>T) | gnomAD v4 |
| 17 | g.42184661T>C | CA983804260 | HCRT | c.22-133A>G (n.22-133A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42184661T= | CA2260368505 | HCRT | c.22-133A= (n.22-133A=) |