UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207630601A>C | CA344543335 | CR1 | c.7437A>C (p.Gln2479His) c.6087A>C (p.Gln2029His) c.1955A>C c.7367+7533A>C (n.7367+7533A>C) c.7452A>C (p.Gln2484His) c.6102A>C (p.Gln2034His) | |
| 1 | g.207630601A>G | CA422963685 | CR1 | c.7437A>G (p.Gln2479=) c.6087A>G (p.Gln2029=) c.1955A>G c.7367+7533A>G (n.7367+7533A>G) c.7452A>G (p.Gln2484=) c.6102A>G (p.Gln2034=) | |
| 1 | g.207630601A>T | CA344543336 | CR1 | c.7437A>T (p.Gln2479His) c.6087A>T (p.Gln2029His) c.1955A>T c.7367+7533A>T (n.7367+7533A>T) c.7452A>T (p.Gln2484His) c.6102A>T (p.Gln2034His) | |
| 1 | g.207630602A= | CA1143526823 | CR1 | c.7438A= (p.Thr2480=) c.6088A= (p.Thr2030=) c.1956A= c.7367+7534A= (n.7367+7534A=) c.7453A= (p.Thr2485=) c.6103A= (p.Thr2035=) | |
| 1 | g.207630602A>C | CA344543338 | CR1 | c.7438A>C (p.Thr2480Pro) c.6088A>C (p.Thr2030Pro) c.1956A>C c.7367+7534A>C (n.7367+7534A>C) c.7453A>C (p.Thr2485Pro) c.6103A>C (p.Thr2035Pro) | |
| 1 | g.207630602A>G | CA1370778 | CR1 | c.7438A>G (p.Thr2480Ala) c.6088A>G (p.Thr2030Ala) c.1956A>G c.7367+7534A>G (n.7367+7534A>G) c.7453A>G (p.Thr2485Ala) c.6103A>G (p.Thr2035Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630602A>T | CA344543337 | CR1 | c.7438A>T (p.Thr2480Ser) c.6088A>T (p.Thr2030Ser) c.1956A>T c.7367+7534A>T (n.7367+7534A>T) c.7453A>T (p.Thr2485Ser) c.6103A>T (p.Thr2035Ser) | |
| 1 | g.207630603C>A | CA344543339 | CR1 | c.7439C>A (p.Thr2480Lys) c.6089C>A (p.Thr2030Lys) c.1957C>A c.7367+7535C>A (n.7367+7535C>A) c.7454C>A (p.Thr2485Lys) c.6104C>A (p.Thr2035Lys) | gnomAD v4 |
| 1 | g.207630603C>G | CA344543341 | CR1 | c.7439C>G (p.Thr2480Arg) c.6089C>G (p.Thr2030Arg) c.1957C>G c.7367+7535C>G (n.7367+7535C>G) c.7454C>G (p.Thr2485Arg) c.6104C>G (p.Thr2035Arg) | |
| 1 | g.207630603C>T | CA344543340 | CR1 | c.7439C>T (p.Thr2480Ile) c.6089C>T (p.Thr2030Ile) c.1957C>T c.7367+7535C>T (n.7367+7535C>T) c.7454C>T (p.Thr2485Ile) c.6104C>T (p.Thr2035Ile) | |
| 1 | g.207630604A>C | CA422963700 | CR1 | c.7440A>C (p.Thr2480=) c.6090A>C (p.Thr2030=) c.1958A>C c.7367+7536A>C (n.7367+7536A>C) c.7455A>C (p.Thr2485=) c.6105A>C (p.Thr2035=) | gnomAD v4 |
| 1 | g.207630604A>G | CA422963701 | CR1 | c.7440A>G (p.Thr2480=) c.6090A>G (p.Thr2030=) c.1958A>G c.7367+7536A>G (n.7367+7536A>G) c.7455A>G (p.Thr2485=) c.6105A>G (p.Thr2035=) | gnomAD v4 |
| 1 | g.207630604A>T | CA422963703 | CR1 | c.7440A>T (p.Thr2480=) c.6090A>T (p.Thr2030=) c.1958A>T c.7367+7536A>T (n.7367+7536A>T) c.7455A>T (p.Thr2485=) c.6105A>T (p.Thr2035=) | |
| 1 | g.207630606del | CA2650271175 | CR1 | c.7442del (p.Asn2481MetfsTer16) c.6092del (p.Asn2031MetfsTer16) c.7442del (p.Asn2481MetfsTer?) c.1960del c.7367+7538del (n.7367+7538del) c.7457del (p.Asn2486MetfsTer11) c.6107del (p.Asn2036MetfsTer11) | gnomAD v4 |
| 1 | g.207630605A>C | CA344543342 | CR1 | c.7441A>C (p.Asn2481His) c.6091A>C (p.Asn2031His) c.1959A>C c.7367+7537A>C (n.7367+7537A>C) c.7456A>C (p.Asn2486His) c.6106A>C (p.Asn2036His) | |
| 1 | g.207630605A>G | CA344543343 | CR1 | c.7441A>G (p.Asn2481Asp) c.6091A>G (p.Asn2031Asp) c.1959A>G c.7367+7537A>G (n.7367+7537A>G) c.7456A>G (p.Asn2486Asp) c.6106A>G (p.Asn2036Asp) | |
| 1 | g.207630605A>T | CA344543344 | CR1 | c.7441A>T (p.Asn2481Tyr) c.6091A>T (p.Asn2031Tyr) c.1959A>T c.7367+7537A>T (n.7367+7537A>T) c.7456A>T (p.Asn2486Tyr) c.6106A>T (p.Asn2036Tyr) | |
| 1 | g.207630606A>C | CA344543345 | CR1 | c.7442A>C (p.Asn2481Thr) c.6092A>C (p.Asn2031Thr) c.1960A>C c.7367+7538A>C (n.7367+7538A>C) c.7457A>C (p.Asn2486Thr) c.6107A>C (p.Asn2036Thr) | |
| 1 | g.207630606A>G | CA344543346 | CR1 | c.7442A>G (p.Asn2481Ser) c.6092A>G (p.Asn2031Ser) c.1960A>G c.7367+7538A>G (n.7367+7538A>G) c.7457A>G (p.Asn2486Ser) c.6107A>G (p.Asn2036Ser) | |
| 1 | g.207630606A>T | CA344543347 | CR1 | c.7442A>T (p.Asn2481Ile) c.6092A>T (p.Asn2031Ile) c.1960A>T c.7367+7538A>T (n.7367+7538A>T) c.7457A>T (p.Asn2486Ile) c.6107A>T (p.Asn2036Ile) | |
| 1 | g.207630607T>A | CA344543348 | CR1 | c.7443T>A (p.Asn2481Lys) c.6093T>A (p.Asn2031Lys) c.1961T>A c.7367+7539T>A (n.7367+7539T>A) c.7458T>A (p.Asn2486Lys) c.6108T>A (p.Asn2036Lys) | |
| 1 | g.207630607T>C | CA422963715 | CR1 | c.7443T>C (p.Asn2481=) c.6093T>C (p.Asn2031=) c.1961T>C c.7367+7539T>C (n.7367+7539T>C) c.7458T>C (p.Asn2486=) c.6108T>C (p.Asn2036=) | COSMIC COSMIC |
| 1 | g.207630607T>G | CA344543349 | CR1 | c.7443T>G (p.Asn2481Lys) c.6093T>G (p.Asn2031Lys) c.1961T>G c.7367+7539T>G (n.7367+7539T>G) c.7458T>G (p.Asn2486Lys) c.6108T>G (p.Asn2036Lys) | |
| 1 | g.207630608G>A | CA36659474 | CR1 | c.7444G>A (p.Glu2482Lys) c.6094G>A (p.Glu2032Lys) c.1962G>A c.7367+7540G>A (n.7367+7540G>A) c.7459G>A (p.Glu2487Lys) c.6109G>A (p.Glu2037Lys) | dbSNP |
| 1 | g.207630608G>C | CA344543350 | CR1 | c.7444G>C (p.Glu2482Gln) c.6094G>C (p.Glu2032Gln) c.1962G>C c.7367+7540G>C (n.7367+7540G>C) c.7459G>C (p.Glu2487Gln) c.6109G>C (p.Glu2037Gln) | |
| 1 | g.207630608G= | CA2483464706 | CR1 | c.7444G= (p.Glu2482=) c.6094G= (p.Glu2032=) c.1962G= c.7367+7540G= (n.7367+7540G=) c.7459G= (p.Glu2487=) c.6109G= (p.Glu2037=) | |
| 1 | g.207630608G>T | CA344543351 | CR1 | c.7444G>T (p.Glu2482Ter) c.6094G>T (p.Glu2032Ter) c.1962G>T c.7367+7540G>T (n.7367+7540G>T) c.7459G>T (p.Glu2487Ter) c.6109G>T (p.Glu2037Ter) | |
| 1 | g.207630609A>C | CA344543354 | CR1 | c.7445A>C (p.Glu2482Ala) c.6095A>C (p.Glu2032Ala) c.1963A>C c.7367+7541A>C (n.7367+7541A>C) c.7460A>C (p.Glu2487Ala) c.6110A>C (p.Glu2037Ala) | |
| 1 | g.207630609A>G | CA344543352 | CR1 | c.7445A>G (p.Glu2482Gly) c.6095A>G (p.Glu2032Gly) c.1963A>G c.7367+7541A>G (n.7367+7541A>G) c.7460A>G (p.Glu2487Gly) c.6110A>G (p.Glu2037Gly) | |
| 1 | g.207630609A>T | CA344543353 | CR1 | c.7445A>T (p.Glu2482Val) c.6095A>T (p.Glu2032Val) c.1963A>T c.7367+7541A>T (n.7367+7541A>T) c.7460A>T (p.Glu2487Val) c.6110A>T (p.Glu2037Val) | |
| 1 | g.207630610A>C | CA344543355 | CR1 | c.7446A>C (p.Glu2482Asp) c.6096A>C (p.Glu2032Asp) c.1964A>C c.7367+7542A>C (n.7367+7542A>C) c.7461A>C (p.Glu2487Asp) c.6111A>C (p.Glu2037Asp) | COSMIC COSMIC |
| 1 | g.207630610A>G | CA422963725 | CR1 | c.7446A>G (p.Glu2482=) c.6096A>G (p.Glu2032=) c.1964A>G c.7367+7542A>G (n.7367+7542A>G) c.7461A>G (p.Glu2487=) c.6111A>G (p.Glu2037=) | |
| 1 | g.207630610A>T | CA344543356 | CR1 | c.7446A>T (p.Glu2482Asp) c.6096A>T (p.Glu2032Asp) c.1964A>T c.7367+7542A>T (n.7367+7542A>T) c.7461A>T (p.Glu2487Asp) c.6111A>T (p.Glu2037Asp) | |
| 1 | g.207630611G>A | CA344543357 | CR1 | c.7447G>A (p.Glu2483Lys) c.6097G>A (p.Glu2033Lys) c.1965G>A c.7367+7543G>A (n.7367+7543G>A) c.7462G>A (p.Glu2488Lys) c.6112G>A (p.Glu2038Lys) | |
| 1 | g.207630611G>C | CA344543358 | CR1 | c.7447G>C (p.Glu2483Gln) c.6097G>C (p.Glu2033Gln) c.1965G>C c.7367+7543G>C (n.7367+7543G>C) c.7462G>C (p.Glu2488Gln) c.6112G>C (p.Glu2038Gln) | gnomAD v4 |
| 1 | g.207630611G>T | CA344543359 | CR1 | c.7447G>T (p.Glu2483Ter) c.6097G>T (p.Glu2033Ter) c.1965G>T c.7367+7543G>T (n.7367+7543G>T) c.7462G>T (p.Glu2488Ter) c.6112G>T (p.Glu2038Ter) | |
| 1 | g.207630612A>C | CA344543360 | CR1 | c.7448A>C (p.Glu2483Ala) c.6098A>C (p.Glu2033Ala) c.1966A>C c.7367+7544A>C (n.7367+7544A>C) c.7463A>C (p.Glu2488Ala) c.6113A>C (p.Glu2038Ala) | |
| 1 | g.207630612A>G | CA344543361 | CR1 | c.7448A>G (p.Glu2483Gly) c.6098A>G (p.Glu2033Gly) c.1966A>G c.7367+7544A>G (n.7367+7544A>G) c.7463A>G (p.Glu2488Gly) c.6113A>G (p.Glu2038Gly) | gnomAD v4 |
| 1 | g.207630612A>T | CA344543362 | CR1 | c.7448A>T (p.Glu2483Val) c.6098A>T (p.Glu2033Val) c.1966A>T c.7367+7544A>T (n.7367+7544A>T) c.7463A>T (p.Glu2488Val) c.6113A>T (p.Glu2038Val) | |
| 1 | g.207630613A= | CA1143098072 | CR1 | c.7449A= (p.Glu2483=) c.6099A= (p.Glu2033=) c.1967A= c.7367+7545A= (n.7367+7545A=) c.7464A= (p.Glu2488=) c.6114A= (p.Glu2038=) | |
| 1 | g.207630613A>C | CA344543363 | CR1 | c.7449A>C (p.Glu2483Asp) c.6099A>C (p.Glu2033Asp) c.1967A>C c.7367+7545A>C (n.7367+7545A>C) c.7464A>C (p.Glu2488Asp) c.6114A>C (p.Glu2038Asp) | |
| 1 | g.207630613A>G | CA422963741 | CR1 | c.7449A>G (p.Glu2483=) c.6099A>G (p.Glu2033=) c.1967A>G c.7367+7545A>G (n.7367+7545A>G) c.7464A>G (p.Glu2488=) c.6114A>G (p.Glu2038=) | gnomAD v4 |
| 1 | g.207630613A>T | CA1370779 | CR1 | c.7449A>T (p.Glu2483Asp) c.6099A>T (p.Glu2033Asp) c.1967A>T c.7367+7545A>T (n.7367+7545A>T) c.7464A>T (p.Glu2488Asp) c.6114A>T (p.Glu2038Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630614A>C | CA344543365 | CR1 | c.7450A>C (p.Asn2484His) c.6100A>C (p.Asn2034His) c.1968A>C c.7367+7546A>C (n.7367+7546A>C) c.7465A>C (p.Asn2489His) c.6115A>C (p.Asn2039His) | |
| 1 | g.207630614A>G | CA344543367 | CR1 | c.7450A>G (p.Asn2484Asp) c.6100A>G (p.Asn2034Asp) c.1968A>G c.7367+7546A>G (n.7367+7546A>G) c.7465A>G (p.Asn2489Asp) c.6115A>G (p.Asn2039Asp) | |
| 1 | g.207630614A>T | CA344543364 | CR1 | c.7450A>T (p.Asn2484Tyr) c.6100A>T (p.Asn2034Tyr) c.1968A>T c.7367+7546A>T (n.7367+7546A>T) c.7465A>T (p.Asn2489Tyr) c.6115A>T (p.Asn2039Tyr) | |
| 1 | g.207630615A>C | CA344543371 | CR1 | c.7451A>C (p.Asn2484Thr) c.6101A>C (p.Asn2034Thr) c.1969A>C c.7367+7547A>C (n.7367+7547A>C) c.7466A>C (p.Asn2489Thr) c.6116A>C (p.Asn2039Thr) | |
| 1 | g.207630615A>G | CA344543373 | CR1 | c.7451A>G (p.Asn2484Ser) c.6101A>G (p.Asn2034Ser) c.1969A>G c.7367+7547A>G (n.7367+7547A>G) c.7466A>G (p.Asn2489Ser) c.6116A>G (p.Asn2039Ser) | |
| 1 | g.207630615A>T | CA344543375 | CR1 | c.7451A>T (p.Asn2484Ile) c.6101A>T (p.Asn2034Ile) c.1969A>T c.7367+7547A>T (n.7367+7547A>T) c.7466A>T (p.Asn2489Ile) c.6116A>T (p.Asn2039Ile) | |
| 1 | g.207630616T>A | CA344543378 | CR1 | c.7452T>A (p.Asn2484Lys) c.6102T>A (p.Asn2034Lys) c.1970T>A c.7367+7548T>A (n.7367+7548T>A) c.7467T>A (p.Asn2489Lys) c.6117T>A (p.Asn2039Lys) | |
| 1 | g.207630616T>C | CA422963749 | CR1 | c.7452T>C (p.Asn2484=) c.6102T>C (p.Asn2034=) c.1970T>C c.7367+7548T>C (n.7367+7548T>C) c.7467T>C (p.Asn2489=) c.6117T>C (p.Asn2039=) | |
| 1 | g.207630616T>G | CA344543380 | CR1 | c.7452T>G (p.Asn2484Lys) c.6102T>G (p.Asn2034Lys) c.1970T>G c.7367+7548T>G (n.7367+7548T>G) c.7467T>G (p.Asn2489Lys) c.6117T>G (p.Asn2039Lys) | |
| 1 | g.207630617A= | CA2483464707 | CR1 | c.7453A= (p.Ser2485=) c.6103A= (p.Ser2035=) c.1971A= c.7367+7549A= (n.7367+7549A=) c.7468A= (p.Ser2490=) c.6118A= (p.Ser2040=) | |
| 1 | g.207630617A>C | CA344543383 | CR1 | c.7453A>C (p.Ser2485Arg) c.6103A>C (p.Ser2035Arg) c.1971A>C c.7367+7549A>C (n.7367+7549A>C) c.7468A>C (p.Ser2490Arg) c.6118A>C (p.Ser2040Arg) | |
| 1 | g.207630617A>G | CA344543385 | CR1 | c.7453A>G (p.Ser2485Gly) c.6103A>G (p.Ser2035Gly) c.1971A>G c.7367+7549A>G (n.7367+7549A>G) c.7468A>G (p.Ser2490Gly) c.6118A>G (p.Ser2040Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630617A>T | CA344543387 | CR1 | c.7453A>T (p.Ser2485Cys) c.6103A>T (p.Ser2035Cys) c.1971A>T c.7367+7549A>T (n.7367+7549A>T) c.7468A>T (p.Ser2490Cys) c.6118A>T (p.Ser2040Cys) | |
| 1 | g.207630618G>A | CA344543390 | CR1 | c.7454G>A (p.Ser2485Asn) c.6104G>A (p.Ser2035Asn) c.1972G>A c.7367+7550G>A (n.7367+7550G>A) c.7469G>A (p.Ser2490Asn) c.6119G>A (p.Ser2040Asn) | gnomAD v4 |
| 1 | g.207630618G>C | CA344543393 | CR1 | c.7454G>C (p.Ser2485Thr) c.6104G>C (p.Ser2035Thr) c.1972G>C c.7367+7550G>C (n.7367+7550G>C) c.7469G>C (p.Ser2490Thr) c.6119G>C (p.Ser2040Thr) | |
| 1 | g.207630618G>T | CA344543395 | CR1 | c.7454G>T (p.Ser2485Ile) c.6104G>T (p.Ser2035Ile) c.1972G>T c.7367+7550G>T (n.7367+7550G>T) c.7469G>T (p.Ser2490Ile) c.6119G>T (p.Ser2040Ile) | |
| 1 | g.207630619C>A | CA344543398 | CR1 | c.7455C>A (p.Ser2485Arg) c.6105C>A (p.Ser2035Arg) c.1973C>A c.7367+7551C>A (n.7367+7551C>A) c.7470C>A (p.Ser2490Arg) c.6120C>A (p.Ser2040Arg) | gnomAD v4 |
| 1 | g.207630619C>G | CA344543400 | CR1 | c.7455C>G (p.Ser2485Arg) c.6105C>G (p.Ser2035Arg) c.1973C>G c.7367+7551C>G (n.7367+7551C>G) c.7470C>G (p.Ser2490Arg) c.6120C>G (p.Ser2040Arg) | |
| 1 | g.207630619C>T | CA422963762 | CR1 | c.7455C>T (p.Ser2485=) c.6105C>T (p.Ser2035=) c.1973C>T c.7367+7551C>T (n.7367+7551C>T) c.7470C>T (p.Ser2490=) c.6120C>T (p.Ser2040=) | |
| 1 | g.207630620A>C | CA422963765 | CR1 | c.7456A>C (p.Arg2486=) c.6106A>C (p.Arg2036=) c.1974A>C c.7367+7552A>C (n.7367+7552A>C) c.7471A>C (p.Arg2491=) c.6121A>C (p.Arg2041=) | |
| 1 | g.207630620A>G | CA344543406 | CR1 | c.7456A>G (p.Arg2486Gly) c.6106A>G (p.Arg2036Gly) c.1974A>G c.7367+7552A>G (n.7367+7552A>G) c.7471A>G (p.Arg2491Gly) c.6121A>G (p.Arg2041Gly) | gnomAD v4 |
| 1 | g.207630620A>T | CA344543403 | CR1 | c.7456A>T (p.Arg2486Trp) c.6106A>T (p.Arg2036Trp) c.1974A>T c.7367+7552A>T (n.7367+7552A>T) c.7471A>T (p.Arg2491Trp) c.6121A>T (p.Arg2041Trp) | COSMIC COSMIC |
| 1 | g.207630621G>A | CA344543410 | CR1 | c.7457G>A (p.Arg2486Lys) c.6107G>A (p.Arg2036Lys) c.1975G>A c.7367+7553G>A (n.7367+7553G>A) c.7472G>A (p.Arg2491Lys) c.6122G>A (p.Arg2041Lys) | |
| 1 | g.207630621G>C | CA344543412 | CR1 | c.7457G>C (p.Arg2486Thr) c.6107G>C (p.Arg2036Thr) c.1975G>C c.7367+7553G>C (n.7367+7553G>C) c.7472G>C (p.Arg2491Thr) c.6122G>C (p.Arg2041Thr) | |
| 1 | g.207630621G>T | CA344543414 | CR1 | c.7457G>T (p.Arg2486Met) c.6107G>T (p.Arg2036Met) c.1975G>T c.7367+7553G>T (n.7367+7553G>T) c.7472G>T (p.Arg2491Met) c.6122G>T (p.Arg2041Met) | |
| 1 | g.207630622G>A | CA344543416 | CR1 | c.7457+1G>A (n.7457+1G>A) c.6107+1G>A (n.6107+1G>A) c.1976G>A c.7367+7554G>A (n.7367+7554G>A) c.7472+1G>A (n.7472+1G>A) c.6122+1G>A (n.6122+1G>A) | gnomAD v4 |
| 1 | g.207630622G>C | CA344543418 | CR1 | c.7457+1G>C (n.7457+1G>C) c.6107+1G>C (n.6107+1G>C) c.1976G>C c.7367+7554G>C (n.7367+7554G>C) c.7472+1G>C (n.7472+1G>C) c.6122+1G>C (n.6122+1G>C) | |
| 1 | g.207630622G>T | CA344543420 | CR1 | c.7457+1G>T (n.7457+1G>T) c.6107+1G>T (n.6107+1G>T) c.1976G>T c.7367+7554G>T (n.7367+7554G>T) c.7472+1G>T (n.7472+1G>T) c.6122+1G>T (n.6122+1G>T) | |
| 1 | g.207630623T>A | CA344543424 | CR1 | c.7457+2T>A (n.7457+2T>A) c.6107+2T>A (n.6107+2T>A) c.1977T>A c.7367+7555T>A (n.7367+7555T>A) c.7472+2T>A (n.7472+2T>A) c.6122+2T>A (n.6122+2T>A) | |
| 1 | g.207630623T>C | CA344543426 | CR1 | c.7457+2T>C (n.7457+2T>C) c.6107+2T>C (n.6107+2T>C) c.1977T>C c.7367+7555T>C (n.7367+7555T>C) c.7472+2T>C (n.7472+2T>C) c.6122+2T>C (n.6122+2T>C) | |
| 1 | g.207630623T>G | CA344543428 | CR1 | c.7457+2T>G (n.7457+2T>G) c.6107+2T>G (n.6107+2T>G) c.1977T>G c.7367+7555T>G (n.7367+7555T>G) c.7472+2T>G (n.7472+2T>G) c.6122+2T>G (n.6122+2T>G) | |
| 1 | g.207630624A= | CA2483464708 | CR1 | c.7457+3A= (n.7457+3A=) c.6107+3A= (n.6107+3A=) c.1978A= c.7367+7556A= (n.7367+7556A=) c.7472+3A= (n.7472+3A=) c.6122+3A= (n.6122+3A=) | |
| 1 | g.207630624A>C | CA2739673264 | CR1 | c.7457+3A>C (n.7457+3A>C) c.6107+3A>C (n.6107+3A>C) c.1978A>C c.7367+7556A>C (n.7367+7556A>C) c.7472+3A>C (n.7472+3A>C) c.6122+3A>C (n.6122+3A>C) | |
| 1 | g.207630624A>G | CA2483464709 | CR1 | c.7457+3A>G (n.7457+3A>G) c.6107+3A>G (n.6107+3A>G) c.1978A>G c.7367+7556A>G (n.7367+7556A>G) c.7472+3A>G (n.7472+3A>G) c.6122+3A>G (n.6122+3A>G) | dbSNP |
| 1 | g.207630624A>T | CA2739673265 | CR1 | c.7457+3A>T (n.7457+3A>T) c.6107+3A>T (n.6107+3A>T) c.1978A>T c.7367+7556A>T (n.7367+7556A>T) c.7472+3A>T (n.7472+3A>T) c.6122+3A>T (n.6122+3A>T) | |
| 1 | g.207630625C>A | CA2650271176 | CR1 | c.7457+4C>A (n.7457+4C>A) c.6107+4C>A (n.6107+4C>A) c.1979C>A c.7367+7557C>A (n.7367+7557C>A) c.7472+4C>A (n.7472+4C>A) c.6122+4C>A (n.6122+4C>A) | gnomAD v4 |
| 1 | g.207630625C>G | CA2739673266 | CR1 | c.7457+4C>G (n.7457+4C>G) c.6107+4C>G (n.6107+4C>G) c.1979C>G c.7367+7557C>G (n.7367+7557C>G) c.7472+4C>G (n.7472+4C>G) c.6122+4C>G (n.6122+4C>G) | |
| 1 | g.207630625C>T | CA2739673267 | CR1 | c.7457+4C>T (n.7457+4C>T) c.6107+4C>T (n.6107+4C>T) c.1979C>T c.7367+7557C>T (n.7367+7557C>T) c.7472+4C>T (n.7472+4C>T) c.6122+4C>T (n.6122+4C>T) | |
| 1 | g.207630626C>A | CA2650271177 | CR1 | c.7457+5C>A (n.7457+5C>A) c.6107+5C>A (n.6107+5C>A) c.1980C>A c.7367+7558C>A (n.7367+7558C>A) c.7472+5C>A (n.7472+5C>A) c.6122+5C>A (n.6122+5C>A) | gnomAD v4 |
| 1 | g.207630626C= | CA2483464711 | CR1 | c.7457+5C= (n.7457+5C=) c.6107+5C= (n.6107+5C=) c.1980C= c.7367+7558C= (n.7367+7558C=) c.7472+5C= (n.7472+5C=) c.6122+5C= (n.6122+5C=) | |
| 1 | g.207630626C>T | CA730647349 | CR1 | c.7457+5C>T (n.7457+5C>T) c.6107+5C>T (n.6107+5C>T) c.1980C>T c.7367+7558C>T (n.7367+7558C>T) c.7472+5C>T (n.7472+5C>T) c.6122+5C>T (n.6122+5C>T) | dbSNP |
| 1 | g.207630626_207630628delinsCTA | CA2483464710 | CR1 | c.7457+5_7457+7delinsCTA (n.7457+5_7457+7delinsCTA) c.6107+5_6107+7delinsCTA (n.6107+5_6107+7delinsCTA) c.7367+7558_7367+7560delinsCTA (n.7367+7558_7367+7560delinsCTA) c.7472+5_7472+7delinsCTA (n.7472+5_7472+7delinsCTA) c.6122+5_6122+7delinsCTA (n.6122+5_6122+7delinsCTA) | |
| 1 | g.207630627T>A | CA2650271178 | CR1 | c.7457+6T>A (n.7457+6T>A) c.6107+6T>A (n.6107+6T>A) c.1981T>A c.7367+7559T>A (n.7367+7559T>A) c.7472+6T>A (n.7472+6T>A) c.6122+6T>A (n.6122+6T>A) | gnomAD v4 |
| 1 | g.207630631_207630632del | CA1370780 | CR1 | c.7457+10_7457+11del (n.7457+10_7457+11del) c.6107+10_6107+11del (n.6107+10_6107+11del) c.7367+7563_7367+7564del (n.7367+7563_7367+7564del) c.7472+10_7472+11del (n.7472+10_7472+11del) c.6122+10_6122+11del (n.6122+10_6122+11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207630628A= | CA2483464712 | CR1 | c.7457+7A= (n.7457+7A=) c.6107+7A= (n.6107+7A=) c.7367+7560A= (n.7367+7560A=) c.7472+7A= (n.7472+7A=) c.6122+7A= (n.6122+7A=) | |
| 1 | g.207630628A>G | CA528604741 | CR1 | c.7457+7A>G (n.7457+7A>G) c.6107+7A>G (n.6107+7A>G) c.7367+7560A>G (n.7367+7560A>G) c.7472+7A>G (n.7472+7A>G) c.6122+7A>G (n.6122+7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207630629T>C | CA1011629510 | CR1 | c.7457+8T>C (n.7457+8T>C) c.6107+8T>C (n.6107+8T>C) c.7367+7561T>C (n.7367+7561T>C) c.7472+8T>C (n.7472+8T>C) c.6122+8T>C (n.6122+8T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207630629T= | CA2483464713 | CR1 | c.7457+8T= (n.7457+8T=) c.6107+8T= (n.6107+8T=) c.7367+7561T= (n.7367+7561T=) c.7472+8T= (n.7472+8T=) c.6122+8T= (n.6122+8T=) | |
| 1 | g.207630630A= | CA2483464714 | CR1 | c.7457+9A= (n.7457+9A=) c.6107+9A= (n.6107+9A=) c.7367+7562A= (n.7367+7562A=) c.7472+9A= (n.7472+9A=) c.6122+9A= (n.6122+9A=) | |
| 1 | g.207630630A>G | CA1370781 | CR1 | c.7457+9A>G (n.7457+9A>G) c.6107+9A>G (n.6107+9A>G) c.7367+7562A>G (n.7367+7562A>G) c.7472+9A>G (n.7472+9A>G) c.6122+9A>G (n.6122+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207630634_207630637del | CA2650271179 | CR1 | c.7457+13_7457+16del (n.7457+13_7457+16del) c.6107+13_6107+16del (n.6107+13_6107+16del) c.7367+7566_7367+7569del (n.7367+7566_7367+7569del) c.7472+13_7472+16del (n.7472+13_7472+16del) c.6122+13_6122+16del (n.6122+13_6122+16del) | gnomAD v4 |
| 1 | g.207630631T>C | CA1370782 | CR1 | c.7457+10T>C (n.7457+10T>C) c.6107+10T>C (n.6107+10T>C) c.7367+7563T>C (n.7367+7563T>C) c.7472+10T>C (n.7472+10T>C) c.6122+10T>C (n.6122+10T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630631T= | CA1143752754 | CR1 | c.7457+10T= (n.7457+10T=) c.6107+10T= (n.6107+10T=) c.7367+7563T= (n.7367+7563T=) c.7472+10T= (n.7472+10T=) c.6122+10T= (n.6122+10T=) | |
| 1 | g.207630633C>A | CA2650271180 | CR1 | c.7457+12C>A (n.7457+12C>A) c.6107+12C>A (n.6107+12C>A) c.7367+7565C>A (n.7367+7565C>A) c.7472+12C>A (n.7472+12C>A) c.6122+12C>A (n.6122+12C>A) | gnomAD v4 |
| 1 | g.207630633C= | CA2483464716 | CR1 | c.7457+12C= (n.7457+12C=) c.6107+12C= (n.6107+12C=) c.7367+7565C= (n.7367+7565C=) c.7472+12C= (n.7472+12C=) c.6122+12C= (n.6122+12C=) | |
| 1 | g.207630633C>T | CA2483464715 | CR1 | c.7457+12C>T (n.7457+12C>T) c.6107+12C>T (n.6107+12C>T) c.7367+7565C>T (n.7367+7565C>T) c.7472+12C>T (n.7472+12C>T) c.6122+12C>T (n.6122+12C>T) | dbSNP gnomAD v4 |
| 1 | g.207630634A= | CA1142473145 | CR1 | c.7457+13A= (n.7457+13A=) c.6107+13A= (n.6107+13A=) c.7367+7566A= (n.7367+7566A=) c.7472+13A= (n.7472+13A=) c.6122+13A= (n.6122+13A=) | |
| 1 | g.207630634A>C | CA2483464717 | CR1 | c.7457+13A>C (n.7457+13A>C) c.6107+13A>C (n.6107+13A>C) c.7367+7566A>C (n.7367+7566A>C) c.7472+13A>C (n.7472+13A>C) c.6122+13A>C (n.6122+13A>C) | dbSNP gnomAD v4 |
| 1 | g.207630634A>G | CA2650271181 | CR1 | c.7457+13A>G (n.7457+13A>G) c.6107+13A>G (n.6107+13A>G) c.7367+7566A>G (n.7367+7566A>G) c.7472+13A>G (n.7472+13A>G) c.6122+13A>G (n.6122+13A>G) | gnomAD v4 |
| 1 | g.207630634A>T | CA1370783 | CR1 | c.7457+13A>T (n.7457+13A>T) c.6107+13A>T (n.6107+13A>T) c.7367+7566A>T (n.7367+7566A>T) c.7472+13A>T (n.7472+13A>T) c.6122+13A>T (n.6122+13A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630635T>A | CA1370784 | CR1 | c.7457+14T>A (n.7457+14T>A) c.6107+14T>A (n.6107+14T>A) c.7367+7567T>A (n.7367+7567T>A) c.7472+14T>A (n.7472+14T>A) c.6122+14T>A (n.6122+14T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630635T= | CA1141692397 | CR1 | c.7457+14T= (n.7457+14T=) c.6107+14T= (n.6107+14T=) c.7367+7567T= (n.7367+7567T=) c.7472+14T= (n.7472+14T=) c.6122+14T= (n.6122+14T=) | |
| 1 | g.207630637C>A | CA730647358 | CR1 | c.7457+16C>A (n.7457+16C>A) c.6107+16C>A (n.6107+16C>A) c.7367+7569C>A (n.7367+7569C>A) c.7472+16C>A (n.7472+16C>A) c.6122+16C>A (n.6122+16C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207630637C= | CA2483464718 | CR1 | c.7457+16C= (n.7457+16C=) c.6107+16C= (n.6107+16C=) c.7367+7569C= (n.7367+7569C=) c.7472+16C= (n.7472+16C=) c.6122+16C= (n.6122+16C=) | |
| 1 | g.207630637C>G | CA528604755 | CR1 | c.7457+16C>G (n.7457+16C>G) c.6107+16C>G (n.6107+16C>G) c.7367+7569C>G (n.7367+7569C>G) c.7472+16C>G (n.7472+16C>G) c.6122+16C>G (n.6122+16C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630637C>T | CA2483464719 | CR1 | c.7457+16C>T (n.7457+16C>T) c.6107+16C>T (n.6107+16C>T) c.7367+7569C>T (n.7367+7569C>T) c.7472+16C>T (n.7472+16C>T) c.6122+16C>T (n.6122+16C>T) | dbSNP gnomAD v4 |
| 1 | g.207630638T>C | CA528604756 | CR1 | c.7457+17T>C (n.7457+17T>C) c.6107+17T>C (n.6107+17T>C) c.7367+7570T>C (n.7367+7570T>C) c.7472+17T>C (n.7472+17T>C) c.6122+17T>C (n.6122+17T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630638T= | CA2483464720 | CR1 | c.7457+17T= (n.7457+17T=) c.6107+17T= (n.6107+17T=) c.7367+7570T= (n.7367+7570T=) c.7472+17T= (n.7472+17T=) c.6122+17T= (n.6122+17T=) | |
| 1 | g.207630639G>A | CA2650271182 | CR1 | c.7457+18G>A (n.7457+18G>A) c.6107+18G>A (n.6107+18G>A) c.7367+7571G>A (n.7367+7571G>A) c.7472+18G>A (n.7472+18G>A) c.6122+18G>A (n.6122+18G>A) | gnomAD v4 |
| 1 | g.207630639G>T | CA2650271183 | CR1 | c.7457+18G>T (n.7457+18G>T) c.6107+18G>T (n.6107+18G>T) c.7367+7571G>T (n.7367+7571G>T) c.7472+18G>T (n.7472+18G>T) c.6122+18G>T (n.6122+18G>T) | gnomAD v4 |
| 1 | g.207630641A= | CA2483464721 | CR1 | c.7457+20A= (n.7457+20A=) c.6107+20A= (n.6107+20A=) c.7367+7573A= (n.7367+7573A=) c.7472+20A= (n.7472+20A=) c.6122+20A= (n.6122+20A=) | |
| 1 | g.207630641A>G | CA2650271184 | CR1 | c.7457+20A>G (n.7457+20A>G) c.6107+20A>G (n.6107+20A>G) c.7367+7573A>G (n.7367+7573A>G) c.7472+20A>G (n.7472+20A>G) c.6122+20A>G (n.6122+20A>G) | gnomAD v4 |
| 1 | g.207630641A>T | CA2483464722 | CR1 | c.7457+20A>T (n.7457+20A>T) c.6107+20A>T (n.6107+20A>T) c.7367+7573A>T (n.7367+7573A>T) c.7472+20A>T (n.7472+20A>T) c.6122+20A>T (n.6122+20A>T) | dbSNP |
| 1 | g.207630642T>A | CA730647362 | CR1 | c.7457+21T>A (n.7457+21T>A) c.6107+21T>A (n.6107+21T>A) c.7367+7574T>A (n.7367+7574T>A) c.7472+21T>A (n.7472+21T>A) c.6122+21T>A (n.6122+21T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207630642T>C | CA2650271185 | CR1 | c.7457+21T>C (n.7457+21T>C) c.6107+21T>C (n.6107+21T>C) c.7367+7574T>C (n.7367+7574T>C) c.7472+21T>C (n.7472+21T>C) c.6122+21T>C (n.6122+21T>C) | gnomAD v4 |
| 1 | g.207630642T= | CA2483464723 | CR1 | c.7457+21T= (n.7457+21T=) c.6107+21T= (n.6107+21T=) c.7367+7574T= (n.7367+7574T=) c.7472+21T= (n.7472+21T=) c.6122+21T= (n.6122+21T=) | |
| 1 | g.207630643T>C | CA2650271186 | CR1 | c.7457+22T>C (n.7457+22T>C) c.6107+22T>C (n.6107+22T>C) c.7367+7575T>C (n.7367+7575T>C) c.7472+22T>C (n.7472+22T>C) c.6122+22T>C (n.6122+22T>C) | gnomAD v4 |
| 1 | g.207630644C>A | CA2650271187 | CR1 | c.7457+23C>A (n.7457+23C>A) c.6107+23C>A (n.6107+23C>A) c.7367+7576C>A (n.7367+7576C>A) c.7472+23C>A (n.7472+23C>A) c.6122+23C>A (n.6122+23C>A) | gnomAD v4 |
| 1 | g.207630645A>G | CA2650271189 | CR1 | c.7457+24A>G (n.7457+24A>G) c.6107+24A>G (n.6107+24A>G) c.7367+7577A>G (n.7367+7577A>G) c.7472+24A>G (n.7472+24A>G) c.6122+24A>G (n.6122+24A>G) | gnomAD v4 |
| 1 | g.207630648del | CA2650271188 | CR1 | c.7457+27del (n.7457+27del) c.6107+27del (n.6107+27del) c.7367+7580del (n.7367+7580del) c.7472+27del (n.7472+27del) c.6122+27del (n.6122+27del) | gnomAD v4 |
| 1 | g.207630646A>T | CA2650271190 | CR1 | c.7457+25A>T (n.7457+25A>T) c.6107+25A>T (n.6107+25A>T) c.7367+7578A>T (n.7367+7578A>T) c.7472+25A>T (n.7472+25A>T) c.6122+25A>T (n.6122+25A>T) | gnomAD v4 |
| 1 | g.207630648A>G | CA2650271191 | CR1 | c.7457+27A>G (n.7457+27A>G) c.6107+27A>G (n.6107+27A>G) c.7367+7580A>G (n.7367+7580A>G) c.7472+27A>G (n.7472+27A>G) c.6122+27A>G (n.6122+27A>G) | gnomAD v4 |
| 1 | g.207630649T>G | CA2650271192 | CR1 | c.7457+28T>G (n.7457+28T>G) c.6107+28T>G (n.6107+28T>G) c.7367+7581T>G (n.7367+7581T>G) c.7472+28T>G (n.7472+28T>G) c.6122+28T>G (n.6122+28T>G) | gnomAD v4 |
| 1 | g.207630650G>A | CA2650271193 | CR1 | c.7457+29G>A (n.7457+29G>A) c.6107+29G>A (n.6107+29G>A) c.7367+7582G>A (n.7367+7582G>A) c.7472+29G>A (n.7472+29G>A) c.6122+29G>A (n.6122+29G>A) | gnomAD v4 |
| 1 | g.207630652T>C | CA2650271194 | CR1 | c.7457+31T>C (n.7457+31T>C) c.6107+31T>C (n.6107+31T>C) c.7367+7584T>C (n.7367+7584T>C) c.7472+31T>C (n.7472+31T>C) c.6122+31T>C (n.6122+31T>C) | gnomAD v4 |
| 1 | g.207630655del | CA2650271197 | CR1 | c.7457+34del (n.7457+34del) c.6107+34del (n.6107+34del) c.7367+7587del (n.7367+7587del) c.7472+34del (n.7472+34del) c.6122+34del (n.6122+34del) | gnomAD v4 |
| 1 | g.207630655C>A | CA2650271196 | CR1 | c.7457+34C>A (n.7457+34C>A) c.6107+34C>A (n.6107+34C>A) c.7367+7587C>A (n.7367+7587C>A) c.7472+34C>A (n.7472+34C>A) c.6122+34C>A (n.6122+34C>A) | gnomAD v4 |
| 1 | g.207630655C>G | CA2650271198 | CR1 | c.7457+34C>G (n.7457+34C>G) c.6107+34C>G (n.6107+34C>G) c.7367+7587C>G (n.7367+7587C>G) c.7472+34C>G (n.7472+34C>G) c.6122+34C>G (n.6122+34C>G) | gnomAD v4 |
| 1 | g.207630655C>T | CA2650271195 | CR1 | c.7457+34C>T (n.7457+34C>T) c.6107+34C>T (n.6107+34C>T) c.7367+7587C>T (n.7367+7587C>T) c.7472+34C>T (n.7472+34C>T) c.6122+34C>T (n.6122+34C>T) | gnomAD v4 |
| 1 | g.207630656A= | CA1143510716 | CR1 | c.7457+35A= (n.7457+35A=) c.6107+35A= (n.6107+35A=) c.7367+7588A= (n.7367+7588A=) c.7472+35A= (n.7472+35A=) c.6122+35A= (n.6122+35A=) | |
| 1 | g.207630656A>G | CA36659484 | CR1 | c.7457+35A>G (n.7457+35A>G) c.6107+35A>G (n.6107+35A>G) c.7367+7588A>G (n.7367+7588A>G) c.7472+35A>G (n.7472+35A>G) c.6122+35A>G (n.6122+35A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207630657A>G | CA2574123303 | CR1 | c.7457+36A>G (n.7457+36A>G) c.6107+36A>G (n.6107+36A>G) c.7367+7589A>G (n.7367+7589A>G) c.7472+36A>G (n.7472+36A>G) c.6122+36A>G (n.6122+36A>G) | gnomAD v4 |
| 1 | g.207630658C>A | CA2650271200 | CR1 | c.7457+37C>A (n.7457+37C>A) c.6107+37C>A (n.6107+37C>A) c.7367+7590C>A (n.7367+7590C>A) c.7472+37C>A (n.7472+37C>A) c.6122+37C>A (n.6122+37C>A) | gnomAD v4 |
| 1 | g.207630658C>T | CA2650271199 | CR1 | c.7457+37C>T (n.7457+37C>T) c.6107+37C>T (n.6107+37C>T) c.7367+7590C>T (n.7367+7590C>T) c.7472+37C>T (n.7472+37C>T) c.6122+37C>T (n.6122+37C>T) | gnomAD v4 |
| 1 | g.207630661C>A | CA528604759 | CR1 | c.7457+40C>A (n.7457+40C>A) c.6107+40C>A (n.6107+40C>A) c.7367+7593C>A (n.7367+7593C>A) c.7472+40C>A (n.7472+40C>A) c.6122+40C>A (n.6122+40C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207630661C= | CA2483464724 | CR1 | c.7457+40C= (n.7457+40C=) c.6107+40C= (n.6107+40C=) c.7367+7593C= (n.7367+7593C=) c.7472+40C= (n.7472+40C=) c.6122+40C= (n.6122+40C=) | |
| 1 | g.207630661C>T | CA528604761 | CR1 | c.7457+40C>T (n.7457+40C>T) c.6107+40C>T (n.6107+40C>T) c.7367+7593C>T (n.7367+7593C>T) c.7472+40C>T (n.7472+40C>T) c.6122+40C>T (n.6122+40C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630662T>A | CA2650271201 | CR1 | c.7457+41T>A (n.7457+41T>A) c.6107+41T>A (n.6107+41T>A) c.7367+7594T>A (n.7367+7594T>A) c.7472+41T>A (n.7472+41T>A) c.6122+41T>A (n.6122+41T>A) | gnomAD v4 |
| 1 | g.207630662T>C | CA2650271202 | CR1 | c.7457+41T>C (n.7457+41T>C) c.6107+41T>C (n.6107+41T>C) c.7367+7594T>C (n.7367+7594T>C) c.7472+41T>C (n.7472+41T>C) c.6122+41T>C (n.6122+41T>C) | gnomAD v4 |
| 1 | g.207630663C>A | CA528604763 | CR1 | c.7457+42C>A (n.7457+42C>A) c.6107+42C>A (n.6107+42C>A) c.7367+7595C>A (n.7367+7595C>A) c.7472+42C>A (n.7472+42C>A) c.6122+42C>A (n.6122+42C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207630663C= | CA2483464725 | CR1 | c.7457+42C= (n.7457+42C=) c.6107+42C= (n.6107+42C=) c.7367+7595C= (n.7367+7595C=) c.7472+42C= (n.7472+42C=) c.6122+42C= (n.6122+42C=) | |
| 1 | g.207630663C>T | CA2650271203 | CR1 | c.7457+42C>T (n.7457+42C>T) c.6107+42C>T (n.6107+42C>T) c.7367+7595C>T (n.7367+7595C>T) c.7472+42C>T (n.7472+42C>T) c.6122+42C>T (n.6122+42C>T) | gnomAD v4 |
| 1 | g.207630664A>C | CA2650271204 | CR1 | c.7457+43A>C (n.7457+43A>C) c.6107+43A>C (n.6107+43A>C) c.7367+7596A>C (n.7367+7596A>C) c.7472+43A>C (n.7472+43A>C) c.6122+43A>C (n.6122+43A>C) | gnomAD v4 |
| 1 | g.207630665A= | CA2483464726 | CR1 | c.7457+44A= (n.7457+44A=) c.6107+44A= (n.6107+44A=) c.7367+7597A= (n.7367+7597A=) c.7472+44A= (n.7472+44A=) c.6122+44A= (n.6122+44A=) | |
| 1 | g.207630665A>C | CA1370786 | CR1 | c.7457+44A>C (n.7457+44A>C) c.6107+44A>C (n.6107+44A>C) c.7367+7597A>C (n.7367+7597A>C) c.7472+44A>C (n.7472+44A>C) c.6122+44A>C (n.6122+44A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207630665A>G | CA1370785 | CR1 | c.7457+44A>G (n.7457+44A>G) c.6107+44A>G (n.6107+44A>G) c.7367+7597A>G (n.7367+7597A>G) c.7472+44A>G (n.7472+44A>G) c.6122+44A>G (n.6122+44A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630665A>T | CA2650271205 | CR1 | c.7457+44A>T (n.7457+44A>T) c.6107+44A>T (n.6107+44A>T) c.7367+7597A>T (n.7367+7597A>T) c.7472+44A>T (n.7472+44A>T) c.6122+44A>T (n.6122+44A>T) | gnomAD v4 |
| 1 | g.207630666A= | CA2483464727 | CR1 | c.7457+45A= (n.7457+45A=) c.6107+45A= (n.6107+45A=) c.7367+7598A= (n.7367+7598A=) c.7472+45A= (n.7472+45A=) c.6122+45A= (n.6122+45A=) | |
| 1 | g.207630666A>C | CA2650271206 | CR1 | c.7457+45A>C (n.7457+45A>C) c.6107+45A>C (n.6107+45A>C) c.7367+7598A>C (n.7367+7598A>C) c.7472+45A>C (n.7472+45A>C) c.6122+45A>C (n.6122+45A>C) | gnomAD v4 |
| 1 | g.207630666A>G | CA2483464728 | CR1 | c.7457+45A>G (n.7457+45A>G) c.6107+45A>G (n.6107+45A>G) c.7367+7598A>G (n.7367+7598A>G) c.7472+45A>G (n.7472+45A>G) c.6122+45A>G (n.6122+45A>G) | dbSNP gnomAD v4 |
| 1 | g.207630667T>A | CA528604768 | CR1 | c.7457+46T>A (n.7457+46T>A) c.6107+46T>A (n.6107+46T>A) c.7367+7599T>A (n.7367+7599T>A) c.7472+46T>A (n.7472+46T>A) c.6122+46T>A (n.6122+46T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207630667T>C | CA730647375 | CR1 | c.7457+46T>C (n.7457+46T>C) c.6107+46T>C (n.6107+46T>C) c.7367+7599T>C (n.7367+7599T>C) c.7472+46T>C (n.7472+46T>C) c.6122+46T>C (n.6122+46T>C) | dbSNP |
| 1 | g.207630667T= | CA2483464729 | CR1 | c.7457+46T= (n.7457+46T=) c.6107+46T= (n.6107+46T=) c.7367+7599T= (n.7367+7599T=) c.7472+46T= (n.7472+46T=) c.6122+46T= (n.6122+46T=) | |
| 1 | g.207630668A>C | CA2650271207 | CR1 | c.7457+47A>C (n.7457+47A>C) c.6107+47A>C (n.6107+47A>C) c.7367+7600A>C (n.7367+7600A>C) c.7472+47A>C (n.7472+47A>C) c.6122+47A>C (n.6122+47A>C) | gnomAD v4 |
| 1 | g.207630668A>G | CA2650271208 | CR1 | c.7457+47A>G (n.7457+47A>G) c.6107+47A>G (n.6107+47A>G) c.7367+7600A>G (n.7367+7600A>G) c.7472+47A>G (n.7472+47A>G) c.6122+47A>G (n.6122+47A>G) | gnomAD v4 |
| 1 | g.207630669T>A | CA528604771 | CR1 | c.7457+48T>A (n.7457+48T>A) c.6107+48T>A (n.6107+48T>A) c.7367+7601T>A (n.7367+7601T>A) c.7472+48T>A (n.7472+48T>A) c.6122+48T>A (n.6122+48T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207630669T>C | CA2650271209 | CR1 | c.7457+48T>C (n.7457+48T>C) c.6107+48T>C (n.6107+48T>C) c.7367+7601T>C (n.7367+7601T>C) c.7472+48T>C (n.7472+48T>C) c.6122+48T>C (n.6122+48T>C) | gnomAD v4 |
| 1 | g.207630669T>G | CA646378428 | CR1 | c.7457+48T>G (n.7457+48T>G) c.6107+48T>G (n.6107+48T>G) c.7367+7601T>G (n.7367+7601T>G) c.7472+48T>G (n.7472+48T>G) c.6122+48T>G (n.6122+48T>G) | COSMIC |
| 1 | g.207630669T= | CA2483464730 | CR1 | c.7457+48T= (n.7457+48T=) c.6107+48T= (n.6107+48T=) c.7367+7601T= (n.7367+7601T=) c.7472+48T= (n.7472+48T=) c.6122+48T= (n.6122+48T=) | |
| 1 | g.207630670C>A | CA528604774 | CR1 | c.7457+49C>A (n.7457+49C>A) c.6107+49C>A (n.6107+49C>A) c.7367+7602C>A (n.7367+7602C>A) c.7472+49C>A (n.7472+49C>A) c.6122+49C>A (n.6122+49C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207630670C= | CA2483464731 | CR1 | c.7457+49C= (n.7457+49C=) c.6107+49C= (n.6107+49C=) c.7367+7602C= (n.7367+7602C=) c.7472+49C= (n.7472+49C=) c.6122+49C= (n.6122+49C=) | |
| 1 | g.207630671A>C | CA2650271211 | CR1 | c.7457+50A>C (n.7457+50A>C) c.6107+50A>C (n.6107+50A>C) c.7367+7603A>C (n.7367+7603A>C) c.7472+50A>C (n.7472+50A>C) c.6122+50A>C (n.6122+50A>C) | gnomAD v4 |
| 1 | g.207630675del | CA2650271210 | CR1 | c.7457+54del (n.7457+54del) c.6107+54del (n.6107+54del) c.7367+7607del (n.7367+7607del) c.7472+54del (n.7472+54del) c.6122+54del (n.6122+54del) | gnomAD v4 |
| 1 | g.207630672A>T | CA2574123306 | CR1 | c.7457+51A>T (n.7457+51A>T) c.6107+51A>T (n.6107+51A>T) c.7367+7604A>T (n.7367+7604A>T) c.7472+51A>T (n.7472+51A>T) c.6122+51A>T (n.6122+51A>T) | |
| 1 | g.207630673A>C | CA2650271212 | CR1 | c.7457+52A>C (n.7457+52A>C) c.6107+52A>C (n.6107+52A>C) c.7367+7605A>C (n.7367+7605A>C) c.7472+52A>C (n.7472+52A>C) c.6122+52A>C (n.6122+52A>C) | gnomAD v4 |
| 1 | g.207630674A>C | CA2650271213 | CR1 | c.7457+53A>C (n.7457+53A>C) c.6107+53A>C (n.6107+53A>C) c.7367+7606A>C (n.7367+7606A>C) c.7472+53A>C (n.7472+53A>C) c.6122+53A>C (n.6122+53A>C) | gnomAD v4 |
| 1 | g.207630674A>G | CA2650271214 | CR1 | c.7457+53A>G (n.7457+53A>G) c.6107+53A>G (n.6107+53A>G) c.7367+7606A>G (n.7367+7606A>G) c.7472+53A>G (n.7472+53A>G) c.6122+53A>G (n.6122+53A>G) | gnomAD v4 |
| 1 | g.207630675A>C | CA2650271215 | CR1 | c.7457+54A>C (n.7457+54A>C) c.6107+54A>C (n.6107+54A>C) c.7367+7607A>C (n.7367+7607A>C) c.7472+54A>C (n.7472+54A>C) c.6122+54A>C (n.6122+54A>C) | gnomAD v4 |
| 1 | g.207630676T>C | CA2574123307 | CR1 | c.7457+55T>C (n.7457+55T>C) c.6107+55T>C (n.6107+55T>C) c.7367+7608T>C (n.7367+7608T>C) c.7472+55T>C (n.7472+55T>C) c.6122+55T>C (n.6122+55T>C) | gnomAD v4 |
| 1 | g.207630677G>A | CA2650271216 | CR1 | c.7457+56G>A (n.7457+56G>A) c.6107+56G>A (n.6107+56G>A) c.7367+7609G>A (n.7367+7609G>A) c.7472+56G>A (n.7472+56G>A) c.6122+56G>A (n.6122+56G>A) | gnomAD v4 |
| 1 | g.207630677G>T | CA2650271217 | CR1 | c.7457+56G>T (n.7457+56G>T) c.6107+56G>T (n.6107+56G>T) c.7367+7609G>T (n.7367+7609G>T) c.7472+56G>T (n.7472+56G>T) c.6122+56G>T (n.6122+56G>T) | gnomAD v4 |
| 1 | g.207630678G>T | CA2650271218 | CR1 | c.7457+57G>T (n.7457+57G>T) c.6107+57G>T (n.6107+57G>T) c.7367+7610G>T (n.7367+7610G>T) c.7472+57G>T (n.7472+57G>T) c.6122+57G>T (n.6122+57G>T) | gnomAD v4 |
| 1 | g.207630680A>G | CA2574123308 | CR1 | c.7457+59A>G (n.7457+59A>G) c.6107+59A>G (n.6107+59A>G) c.7367+7612A>G (n.7367+7612A>G) c.7472+59A>G (n.7472+59A>G) c.6122+59A>G (n.6122+59A>G) | gnomAD v4 |
| 1 | g.207630681A>G | CA2650271219 | CR1 | c.7457+60A>G (n.7457+60A>G) c.6107+60A>G (n.6107+60A>G) c.7367+7613A>G (n.7367+7613A>G) c.7472+60A>G (n.7472+60A>G) c.6122+60A>G (n.6122+60A>G) | gnomAD v4 |
| 1 | g.207630682C>A | CA2650271220 | CR1 | c.7457+61C>A (n.7457+61C>A) c.6107+61C>A (n.6107+61C>A) c.7367+7614C>A (n.7367+7614C>A) c.7472+61C>A (n.7472+61C>A) c.6122+61C>A (n.6122+61C>A) | gnomAD v4 |
| 1 | g.207630682C= | CA2483464732 | CR1 | c.7457+61C= (n.7457+61C=) c.6107+61C= (n.6107+61C=) c.7367+7614C= (n.7367+7614C=) c.7472+61C= (n.7472+61C=) c.6122+61C= (n.6122+61C=) | |
| 1 | g.207630682C>G | CA2483464733 | CR1 | c.7457+61C>G (n.7457+61C>G) c.6107+61C>G (n.6107+61C>G) c.7367+7614C>G (n.7367+7614C>G) c.7472+61C>G (n.7472+61C>G) c.6122+61C>G (n.6122+61C>G) | dbSNP gnomAD v4 |
| 1 | g.207630682C>T | CA2483464734 | CR1 | c.7457+61C>T (n.7457+61C>T) c.6107+61C>T (n.6107+61C>T) c.7367+7614C>T (n.7367+7614C>T) c.7472+61C>T (n.7472+61C>T) c.6122+61C>T (n.6122+61C>T) | dbSNP |
| 1 | g.207630684G>A | CA2483464736 | CR1 | c.7457+63G>A (n.7457+63G>A) c.6107+63G>A (n.6107+63G>A) c.7367+7616G>A (n.7367+7616G>A) c.7472+63G>A (n.7472+63G>A) c.6122+63G>A (n.6122+63G>A) | dbSNP gnomAD v4 |
| 1 | g.207630684G>C | CA2650271221 | CR1 | c.7457+63G>C (n.7457+63G>C) c.6107+63G>C (n.6107+63G>C) c.7367+7616G>C (n.7367+7616G>C) c.7472+63G>C (n.7472+63G>C) c.6122+63G>C (n.6122+63G>C) | gnomAD v4 |
| 1 | g.207630684G= | CA2483464735 | CR1 | c.7457+63G= (n.7457+63G=) c.6107+63G= (n.6107+63G=) c.7367+7616G= (n.7367+7616G=) c.7472+63G= (n.7472+63G=) c.6122+63G= (n.6122+63G=) | |
| 1 | g.207630684G>T | CA2650271222 | CR1 | c.7457+63G>T (n.7457+63G>T) c.6107+63G>T (n.6107+63G>T) c.7367+7616G>T (n.7367+7616G>T) c.7472+63G>T (n.7472+63G>T) c.6122+63G>T (n.6122+63G>T) | gnomAD v4 |
| 1 | g.207630685G>A | CA36659488 | CR1 | c.7457+64G>A (n.7457+64G>A) c.6107+64G>A (n.6107+64G>A) c.7367+7617G>A (n.7367+7617G>A) c.7472+64G>A (n.7472+64G>A) c.6122+64G>A (n.6122+64G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630685G= | CA1141188373 | CR1 | c.7457+64G= (n.7457+64G=) c.6107+64G= (n.6107+64G=) c.7367+7617G= (n.7367+7617G=) c.7472+64G= (n.7472+64G=) c.6122+64G= (n.6122+64G=) | |
| 1 | g.207630686A>C | CA2650271223 | CR1 | c.7457+65A>C (n.7457+65A>C) c.6107+65A>C (n.6107+65A>C) c.7367+7618A>C (n.7367+7618A>C) c.7472+65A>C (n.7472+65A>C) c.6122+65A>C (n.6122+65A>C) | gnomAD v4 |
| 1 | g.207630686A>G | CA2650271224 | CR1 | c.7457+65A>G (n.7457+65A>G) c.6107+65A>G (n.6107+65A>G) c.7367+7618A>G (n.7367+7618A>G) c.7472+65A>G (n.7472+65A>G) c.6122+65A>G (n.6122+65A>G) | gnomAD v4 |
| 1 | g.207630687C>A | CA2650271225 | CR1 | c.7457+66C>A (n.7457+66C>A) c.6107+66C>A (n.6107+66C>A) c.7367+7619C>A (n.7367+7619C>A) c.7472+66C>A (n.7472+66C>A) c.6122+66C>A (n.6122+66C>A) | gnomAD v4 |
| 1 | g.207630687C= | CA2483464737 | CR1 | c.7457+66C= (n.7457+66C=) c.6107+66C= (n.6107+66C=) c.7367+7619C= (n.7367+7619C=) c.7472+66C= (n.7472+66C=) c.6122+66C= (n.6122+66C=) | |
| 1 | g.207630687C>G | CA36659491 | CR1 | c.7457+66C>G (n.7457+66C>G) c.6107+66C>G (n.6107+66C>G) c.7367+7619C>G (n.7367+7619C>G) c.7472+66C>G (n.7472+66C>G) c.6122+66C>G (n.6122+66C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630689T>C | CA2650271226 | CR1 | c.7457+68T>C (n.7457+68T>C) c.6107+68T>C (n.6107+68T>C) c.7367+7621T>C (n.7367+7621T>C) c.7472+68T>C (n.7472+68T>C) c.6122+68T>C (n.6122+68T>C) | gnomAD v4 |
| 1 | g.207630690G>A | CA2650271227 | CR1 | c.7457+69G>A (n.7457+69G>A) c.6107+69G>A (n.6107+69G>A) c.7367+7622G>A (n.7367+7622G>A) c.7472+69G>A (n.7472+69G>A) c.6122+69G>A (n.6122+69G>A) | gnomAD v4 |
| 1 | g.207630690G>T | CA2650271228 | CR1 | c.7457+69G>T (n.7457+69G>T) c.6107+69G>T (n.6107+69G>T) c.7367+7622G>T (n.7367+7622G>T) c.7472+69G>T (n.7472+69G>T) c.6122+69G>T (n.6122+69G>T) | gnomAD v4 |
| 1 | g.207630691A= | CA2483464738 | CR1 | c.7457+70A= (n.7457+70A=) c.6107+70A= (n.6107+70A=) c.7367+7623A= (n.7367+7623A=) c.7472+70A= (n.7472+70A=) c.6122+70A= (n.6122+70A=) | |
| 1 | g.207630691A>C | CA730647378 | CR1 | c.7457+70A>C (n.7457+70A>C) c.6107+70A>C (n.6107+70A>C) c.7367+7623A>C (n.7367+7623A>C) c.7472+70A>C (n.7472+70A>C) c.6122+70A>C (n.6122+70A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207630691A>G | CA2650271229 | CR1 | c.7457+70A>G (n.7457+70A>G) c.6107+70A>G (n.6107+70A>G) c.7367+7623A>G (n.7367+7623A>G) c.7472+70A>G (n.7472+70A>G) c.6122+70A>G (n.6122+70A>G) | gnomAD v4 |
| 1 | g.207630693T>C | CA730647387 | CR1 | c.7457+72T>C (n.7457+72T>C) c.6107+72T>C (n.6107+72T>C) c.7367+7625T>C (n.7367+7625T>C) c.7472+72T>C (n.7472+72T>C) c.6122+72T>C (n.6122+72T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207630693T= | CA2483464739 | CR1 | c.7457+72T= (n.7457+72T=) c.6107+72T= (n.6107+72T=) c.7367+7625T= (n.7367+7625T=) c.7472+72T= (n.7472+72T=) c.6122+72T= (n.6122+72T=) | |
| 1 | g.207630694A>G | CA2650271230 | CR1 | c.7457+73A>G (n.7457+73A>G) c.6107+73A>G (n.6107+73A>G) c.7367+7626A>G (n.7367+7626A>G) c.7472+73A>G (n.7472+73A>G) c.6122+73A>G (n.6122+73A>G) | gnomAD v4 |
| 1 | g.207630695T>A | CA2650271231 | CR1 | c.7457+74T>A (n.7457+74T>A) c.6107+74T>A (n.6107+74T>A) c.7367+7627T>A (n.7367+7627T>A) c.7472+74T>A (n.7472+74T>A) c.6122+74T>A (n.6122+74T>A) | gnomAD v4 |
| 1 | g.207630695T>C | CA2650271232 | CR1 | c.7457+74T>C (n.7457+74T>C) c.6107+74T>C (n.6107+74T>C) c.7367+7627T>C (n.7367+7627T>C) c.7472+74T>C (n.7472+74T>C) c.6122+74T>C (n.6122+74T>C) | gnomAD v4 |
| 1 | g.207630696G>A | CA2650271233 | CR1 | c.7457+75G>A (n.7457+75G>A) c.6107+75G>A (n.6107+75G>A) c.7367+7628G>A (n.7367+7628G>A) c.7472+75G>A (n.7472+75G>A) c.6122+75G>A (n.6122+75G>A) | gnomAD v4 |
| 1 | g.207630698T= | CA2483464740 | CR1 | c.7457+77T= (n.7457+77T=) c.6107+77T= (n.6107+77T=) c.7367+7630T= (n.7367+7630T=) c.7472+77T= (n.7472+77T=) c.6122+77T= (n.6122+77T=) | |
| 1 | g.207630699A>G | CA2697951533 | CR1 | c.7457+78A>G (n.7457+78A>G) c.6107+78A>G (n.6107+78A>G) c.7367+7631A>G (n.7367+7631A>G) c.7472+78A>G (n.7472+78A>G) c.6122+78A>G (n.6122+78A>G) | dbSNP |
| 1 | g.207630699dup | CA528604779 | CR1 | c.7457+78dup (n.7457+78dup) c.6107+78dup (n.6107+78dup) c.7367+7631dup (n.7367+7631dup) c.7472+78dup (n.7472+78dup) c.6122+78dup (n.6122+78dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207630700T>C | CA1011629526 | CR1 | c.7457+79T>C (n.7457+79T>C) c.6107+79T>C (n.6107+79T>C) c.7367+7632T>C (n.7367+7632T>C) c.7472+79T>C (n.7472+79T>C) c.6122+79T>C (n.6122+79T>C) | dbSNP |
| 1 | g.207630700T= | CA2483464741 | CR1 | c.7457+79T= (n.7457+79T=) c.6107+79T= (n.6107+79T=) c.7367+7632T= (n.7367+7632T=) c.7472+79T= (n.7472+79T=) c.6122+79T= (n.6122+79T=) | |
| 1 | g.207630701T>A | CA2650271234 | CR1 | c.7457+80T>A (n.7457+80T>A) c.6107+80T>A (n.6107+80T>A) c.7367+7633T>A (n.7367+7633T>A) c.7472+80T>A (n.7472+80T>A) c.6122+80T>A (n.6122+80T>A) | gnomAD v4 |
| 1 | g.207630701T>C | CA36659493 | CR1 | c.7457+80T>C (n.7457+80T>C) c.6107+80T>C (n.6107+80T>C) c.7367+7633T>C (n.7367+7633T>C) c.7472+80T>C (n.7472+80T>C) c.6122+80T>C (n.6122+80T>C) | dbSNP gnomAD v3 |
| 1 | g.207630701T>G | CA2650271235 | CR1 | c.7457+80T>G (n.7457+80T>G) c.6107+80T>G (n.6107+80T>G) c.7367+7633T>G (n.7367+7633T>G) c.7472+80T>G (n.7472+80T>G) c.6122+80T>G (n.6122+80T>G) | gnomAD v4 |
| 1 | g.207630701T= | CA1144681297 | CR1 | c.7457+80T= (n.7457+80T=) c.6107+80T= (n.6107+80T=) c.7367+7633T= (n.7367+7633T=) c.7472+80T= (n.7472+80T=) c.6122+80T= (n.6122+80T=) |