WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60865385T>A | CA371309459 | CHD7 | n.1622T>A n.553T>A c.*1505T>A (n.*1505T>A) c.8446T>A (p.Leu2816Met) c.2299T>A (p.Leu767Met) n.492T>A c.8536T>A (p.Leu2846Met) c.8533T>A (p.Leu2845Met) c.8314T>A (p.Leu2772Met) c.6523T>A (p.Leu2175Met) c.6073T>A (p.Leu2025Met) c.5281T>A (p.Leu1761Met) c.8443T>A (p.Leu2815Met) | |
| 8 | g.60865385T>C | CA244937 | CHD7 | n.1622T>C n.553T>C c.*1505T>C (n.*1505T>C) c.8446T>C (p.Leu2816=) c.2299T>C (p.Leu767=) n.492T>C c.8536T>C (p.Leu2846=) c.8533T>C (p.Leu2845=) c.8314T>C (p.Leu2772=) c.6523T>C (p.Leu2175=) c.6073T>C (p.Leu2025=) c.5281T>C (p.Leu1761=) c.8443T>C (p.Leu2815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60865385T>G | CA371309463 | CHD7 | n.1622T>G n.553T>G c.*1505T>G (n.*1505T>G) c.8446T>G (p.Leu2816Val) c.2299T>G (p.Leu767Val) n.492T>G c.8536T>G (p.Leu2846Val) c.8533T>G (p.Leu2845Val) c.8314T>G (p.Leu2772Val) c.6523T>G (p.Leu2175Val) c.6073T>G (p.Leu2025Val) c.5281T>G (p.Leu1761Val) c.8443T>G (p.Leu2815Val) | |
| 8 | g.60865385T= | CA1788130203 | CHD7 | n.1622T= n.553T= c.*1505T= (n.*1505T=) c.8446T= (p.Leu2816=) c.2299T= (p.Leu767=) n.492T= c.8536T= (p.Leu2846=) c.8533T= (p.Leu2845=) c.8314T= (p.Leu2772=) c.6523T= (p.Leu2175=) c.6073T= (p.Leu2025=) c.5281T= (p.Leu1761=) c.8443T= (p.Leu2815=) | |
| 8 | g.60865386T>A | CA371309477 | CHD7 | n.1623T>A n.554T>A c.*1506T>A (n.*1506T>A) c.8447T>A (p.Leu2816Ter) c.2300T>A (p.Leu767Ter) n.493T>A c.8537T>A (p.Leu2846Ter) c.8534T>A (p.Leu2845Ter) c.8315T>A (p.Leu2772Ter) c.6524T>A (p.Leu2175Ter) c.6074T>A (p.Leu2025Ter) c.5282T>A (p.Leu1761Ter) c.8444T>A (p.Leu2815Ter) | |
| 8 | g.60865386T>C | CA371309472 | CHD7 | n.1623T>C n.554T>C c.*1506T>C (n.*1506T>C) c.8447T>C (p.Leu2816Ser) c.2300T>C (p.Leu767Ser) n.493T>C c.8537T>C (p.Leu2846Ser) c.8534T>C (p.Leu2845Ser) c.8315T>C (p.Leu2772Ser) c.6524T>C (p.Leu2175Ser) c.6074T>C (p.Leu2025Ser) c.5282T>C (p.Leu1761Ser) c.8444T>C (p.Leu2815Ser) | |
| 8 | g.60865386T>G | CA371309468 | CHD7 | n.1623T>G n.554T>G c.*1506T>G (n.*1506T>G) c.8447T>G (p.Leu2816Trp) c.2300T>G (p.Leu767Trp) n.493T>G c.8537T>G (p.Leu2846Trp) c.8534T>G (p.Leu2845Trp) c.8315T>G (p.Leu2772Trp) c.6524T>G (p.Leu2175Trp) c.6074T>G (p.Leu2025Trp) c.5282T>G (p.Leu1761Trp) c.8444T>G (p.Leu2815Trp) | |
| 8 | g.60865387G>A | CA461106040 | CHD7 | n.1624G>A n.555G>A c.*1507G>A (n.*1507G>A) c.8448G>A (p.Leu2816=) c.2301G>A (p.Leu767=) n.494G>A c.8538G>A (p.Leu2846=) c.8535G>A (p.Leu2845=) c.8316G>A (p.Leu2772=) c.6525G>A (p.Leu2175=) c.6075G>A (p.Leu2025=) c.5283G>A (p.Leu1761=) c.8445G>A (p.Leu2815=) | |
| 8 | g.60865387G>C | CA371309482 | CHD7 | n.1624G>C n.555G>C c.*1507G>C (n.*1507G>C) c.8448G>C (p.Leu2816Phe) c.2301G>C (p.Leu767Phe) n.494G>C c.8538G>C (p.Leu2846Phe) c.8535G>C (p.Leu2845Phe) c.8316G>C (p.Leu2772Phe) c.6525G>C (p.Leu2175Phe) c.6075G>C (p.Leu2025Phe) c.5283G>C (p.Leu1761Phe) c.8445G>C (p.Leu2815Phe) | |
| 8 | g.60865387G>T | CA371309485 | CHD7 | n.1624G>T n.555G>T c.*1507G>T (n.*1507G>T) c.8448G>T (p.Leu2816Phe) c.2301G>T (p.Leu767Phe) n.494G>T c.8538G>T (p.Leu2846Phe) c.8535G>T (p.Leu2845Phe) c.8316G>T (p.Leu2772Phe) c.6525G>T (p.Leu2175Phe) c.6075G>T (p.Leu2025Phe) c.5283G>T (p.Leu1761Phe) c.8445G>T (p.Leu2815Phe) | |
| 8 | g.60865388A>C | CA371309490 | CHD7 | n.1625A>C n.556A>C c.*1508A>C (n.*1508A>C) c.8449A>C (p.Asn2817His) c.2302A>C (p.Asn768His) n.495A>C c.8539A>C (p.Asn2847His) c.8536A>C (p.Asn2846His) c.8317A>C (p.Asn2773His) c.6526A>C (p.Asn2176His) c.6076A>C (p.Asn2026His) c.5284A>C (p.Asn1762His) c.8446A>C (p.Asn2816His) | |
| 8 | g.60865388A>G | CA371309494 | CHD7 | n.1625A>G n.556A>G c.*1508A>G (n.*1508A>G) c.8449A>G (p.Asn2817Asp) c.2302A>G (p.Asn768Asp) n.495A>G c.8539A>G (p.Asn2847Asp) c.8536A>G (p.Asn2846Asp) c.8317A>G (p.Asn2773Asp) c.6526A>G (p.Asn2176Asp) c.6076A>G (p.Asn2026Asp) c.5284A>G (p.Asn1762Asp) c.8446A>G (p.Asn2816Asp) | |
| 8 | g.60865388A>T | CA371309500 | CHD7 | n.1625A>T n.556A>T c.*1508A>T (n.*1508A>T) c.8449A>T (p.Asn2817Tyr) c.2302A>T (p.Asn768Tyr) n.495A>T c.8539A>T (p.Asn2847Tyr) c.8536A>T (p.Asn2846Tyr) c.8317A>T (p.Asn2773Tyr) c.6526A>T (p.Asn2176Tyr) c.6076A>T (p.Asn2026Tyr) c.5284A>T (p.Asn1762Tyr) c.8446A>T (p.Asn2816Tyr) | |
| 8 | g.60865389A>C | CA371309506 | CHD7 | n.1626A>C n.557A>C c.*1509A>C (n.*1509A>C) c.8450A>C (p.Asn2817Thr) c.2303A>C (p.Asn768Thr) n.496A>C c.8540A>C (p.Asn2847Thr) c.8537A>C (p.Asn2846Thr) c.8318A>C (p.Asn2773Thr) c.6527A>C (p.Asn2176Thr) c.6077A>C (p.Asn2026Thr) c.5285A>C (p.Asn1762Thr) c.8447A>C (p.Asn2816Thr) | |
| 8 | g.60865389A>G | CA371309512 | CHD7 | n.1626A>G n.557A>G c.*1509A>G (n.*1509A>G) c.8450A>G (p.Asn2817Ser) c.2303A>G (p.Asn768Ser) n.496A>G c.8540A>G (p.Asn2847Ser) c.8537A>G (p.Asn2846Ser) c.8318A>G (p.Asn2773Ser) c.6527A>G (p.Asn2176Ser) c.6077A>G (p.Asn2026Ser) c.5285A>G (p.Asn1762Ser) c.8447A>G (p.Asn2816Ser) | gnomAD v4 COSMIC |
| 8 | g.60865389A>T | CA371309516 | CHD7 | n.1626A>T n.557A>T c.*1509A>T (n.*1509A>T) c.8450A>T (p.Asn2817Ile) c.2303A>T (p.Asn768Ile) n.496A>T c.8540A>T (p.Asn2847Ile) c.8537A>T (p.Asn2846Ile) c.8318A>T (p.Asn2773Ile) c.6527A>T (p.Asn2176Ile) c.6077A>T (p.Asn2026Ile) c.5285A>T (p.Asn1762Ile) c.8447A>T (p.Asn2816Ile) | COSMIC |
| 8 | g.60865390T>A | CA371309523 | CHD7 | n.1627T>A n.558T>A c.*1510T>A (n.*1510T>A) c.8451T>A (p.Asn2817Lys) c.2304T>A (p.Asn768Lys) n.497T>A c.8541T>A (p.Asn2847Lys) c.8538T>A (p.Asn2846Lys) c.8319T>A (p.Asn2773Lys) c.6528T>A (p.Asn2176Lys) c.6078T>A (p.Asn2026Lys) c.5286T>A (p.Asn1762Lys) c.8448T>A (p.Asn2816Lys) | |
| 8 | g.60865390T>C | CA461106049 | CHD7 | n.1627T>C n.558T>C c.*1510T>C (n.*1510T>C) c.8451T>C (p.Asn2817=) c.2304T>C (p.Asn768=) n.497T>C c.8541T>C (p.Asn2847=) c.8538T>C (p.Asn2846=) c.8319T>C (p.Asn2773=) c.6528T>C (p.Asn2176=) c.6078T>C (p.Asn2026=) c.5286T>C (p.Asn1762=) c.8448T>C (p.Asn2816=) | gnomAD v4 |
| 8 | g.60865390T>G | CA371309538 | CHD7 | n.1627T>G n.558T>G c.*1510T>G (n.*1510T>G) c.8451T>G (p.Asn2817Lys) c.2304T>G (p.Asn768Lys) n.497T>G c.8541T>G (p.Asn2847Lys) c.8538T>G (p.Asn2846Lys) c.8319T>G (p.Asn2773Lys) c.6528T>G (p.Asn2176Lys) c.6078T>G (p.Asn2026Lys) c.5286T>G (p.Asn1762Lys) c.8448T>G (p.Asn2816Lys) | |
| 8 | g.60865390T= | CA1788130218 | CHD7 | n.1627T= n.558T= c.*1510T= (n.*1510T=) c.8451T= (p.Asn2817=) c.2304T= (p.Asn768=) n.497T= c.8541T= (p.Asn2847=) c.8538T= (p.Asn2846=) c.8319T= (p.Asn2773=) c.6528T= (p.Asn2176=) c.6078T= (p.Asn2026=) c.5286T= (p.Asn1762=) c.8448T= (p.Asn2816=) | |
| 8 | g.60865391_60865398dup | CA2695203182 | CHD7 | n.1628_1635dup n.559_566dup c.*1511_*1518dup (n.*1511_*1518dup) c.8452_8459dup (p.Ser2821ThrfsTer?) c.2305_2312dup (p.Ser772ThrfsTer?) n.498_505dup c.8542_8549dup (p.Ser2851ThrfsTer?) c.8539_8546dup (p.Ser2850ThrfsTer?) c.8320_8327dup (p.Ser2777ThrfsTer?) c.6529_6536dup (p.Ser2180ThrfsTer?) c.6079_6086dup (p.Ser2030ThrfsTer?) c.5287_5294dup (p.Ser1766ThrfsTer?) c.8449_8456dup (p.Ser2820ThrfsTer?) | |
| 8 | g.60865391A>C | CA371309544 | CHD7 | n.1628A>C n.559A>C c.*1511A>C (n.*1511A>C) c.8452A>C (p.Asn2818His) c.2305A>C (p.Asn769His) n.498A>C c.8542A>C (p.Asn2848His) c.8539A>C (p.Asn2847His) c.8320A>C (p.Asn2774His) c.6529A>C (p.Asn2177His) c.6079A>C (p.Asn2027His) c.5287A>C (p.Asn1763His) c.8449A>C (p.Asn2817His) | |
| 8 | g.60865391A>G | CA371309549 | CHD7 | n.1628A>G n.559A>G c.*1511A>G (n.*1511A>G) c.8452A>G (p.Asn2818Asp) c.2305A>G (p.Asn769Asp) n.498A>G c.8542A>G (p.Asn2848Asp) c.8539A>G (p.Asn2847Asp) c.8320A>G (p.Asn2774Asp) c.6529A>G (p.Asn2177Asp) c.6079A>G (p.Asn2027Asp) c.5287A>G (p.Asn1763Asp) c.8449A>G (p.Asn2817Asp) | gnomAD v4 |
| 8 | g.60865391A>T | CA371309552 | CHD7 | n.1628A>T n.559A>T c.*1511A>T (n.*1511A>T) c.8452A>T (p.Asn2818Tyr) c.2305A>T (p.Asn769Tyr) n.498A>T c.8542A>T (p.Asn2848Tyr) c.8539A>T (p.Asn2847Tyr) c.8320A>T (p.Asn2774Tyr) c.6529A>T (p.Asn2177Tyr) c.6079A>T (p.Asn2027Tyr) c.5287A>T (p.Asn1763Tyr) c.8449A>T (p.Asn2817Tyr) | |
| 8 | g.60865391_60865393dup | CA582403679 | CHD7 | n.1628_1630dup n.559_561dup c.*1511_*1513dup (n.*1511_*1513dup) c.8452_8454dup (p.Asn2818_Pro2819insAsn) c.2305_2307dup (p.Asn769_Pro770insAsn) n.498_500dup c.8542_8544dup (p.Asn2848_Pro2849insAsn) c.8539_8541dup (p.Asn2847_Pro2848insAsn) c.8320_8322dup (p.Asn2774_Pro2775insAsn) c.6529_6531dup (p.Asn2177_Pro2178insAsn) c.6079_6081dup (p.Asn2027_Pro2028insAsn) c.5287_5289dup (p.Asn1763_Pro1764insAsn) c.8449_8451dup (p.Asn2817_Pro2818insAsn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60865392_60865402dup | CA275232 | CHD7 | n.1629_1639dup n.560_570dup c.*1512_*1522dup (n.*1512_*1522dup) c.8453_8463dup (p.Ala2822ThrfsTer?) c.2306_2316dup (p.Ala773ThrfsTer?) n.499_509dup c.8543_8553dup (p.Ala2852ThrfsTer?) c.8540_8550dup (p.Ala2851ThrfsTer?) c.8321_8331dup (p.Ala2778ThrfsTer?) c.6530_6540dup (p.Ala2181ThrfsTer?) c.6080_6090dup (p.Ala2031ThrfsTer?) c.5288_5298dup (p.Ala1767ThrfsTer?) c.8450_8460dup (p.Ala2821ThrfsTer?) | ClinVar dbSNP |
| 8 | g.60865392A= | CA1788130238 | CHD7 | n.1629A= n.560A= c.*1512A= (n.*1512A=) c.8453A= (p.Asn2818=) c.2306A= (p.Asn769=) n.499A= c.8543A= (p.Asn2848=) c.8540A= (p.Asn2847=) c.8321A= (p.Asn2774=) c.6530A= (p.Asn2177=) c.6080A= (p.Asn2027=) c.5288A= (p.Asn1763=) c.8450A= (p.Asn2817=) | |
| 8 | g.60865392A>C | CA371309562 | CHD7 | n.1629A>C n.560A>C c.*1512A>C (n.*1512A>C) c.8453A>C (p.Asn2818Thr) c.2306A>C (p.Asn769Thr) n.499A>C c.8543A>C (p.Asn2848Thr) c.8540A>C (p.Asn2847Thr) c.8321A>C (p.Asn2774Thr) c.6530A>C (p.Asn2177Thr) c.6080A>C (p.Asn2027Thr) c.5288A>C (p.Asn1763Thr) c.8450A>C (p.Asn2817Thr) | dbSNP |
| 8 | g.60865392A>G | CA4761019 | CHD7 | n.1629A>G n.560A>G c.*1512A>G (n.*1512A>G) c.8453A>G (p.Asn2818Ser) c.2306A>G (p.Asn769Ser) n.499A>G c.8543A>G (p.Asn2848Ser) c.8540A>G (p.Asn2847Ser) c.8321A>G (p.Asn2774Ser) c.6530A>G (p.Asn2177Ser) c.6080A>G (p.Asn2027Ser) c.5288A>G (p.Asn1763Ser) c.8450A>G (p.Asn2817Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60865392A>T | CA371309558 | CHD7 | n.1629A>T n.560A>T c.*1512A>T (n.*1512A>T) c.8453A>T (p.Asn2818Ile) c.2306A>T (p.Asn769Ile) n.499A>T c.8543A>T (p.Asn2848Ile) c.8540A>T (p.Asn2847Ile) c.8321A>T (p.Asn2774Ile) c.6530A>T (p.Asn2177Ile) c.6080A>T (p.Asn2027Ile) c.5288A>T (p.Asn1763Ile) c.8450A>T (p.Asn2817Ile) | |
| 8 | g.60865393C>A | CA371309568 | CHD7 | n.1630C>A n.561C>A c.*1513C>A (n.*1513C>A) c.8454C>A (p.Asn2818Lys) c.2307C>A (p.Asn769Lys) n.500C>A c.8544C>A (p.Asn2848Lys) c.8541C>A (p.Asn2847Lys) c.8322C>A (p.Asn2774Lys) c.6531C>A (p.Asn2177Lys) c.6081C>A (p.Asn2027Lys) c.5289C>A (p.Asn1763Lys) c.8451C>A (p.Asn2817Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60865393C= | CA1788130248 | CHD7 | n.1630C= n.561C= c.*1513C= (n.*1513C=) c.8454C= (p.Asn2818=) c.2307C= (p.Asn769=) n.500C= c.8544C= (p.Asn2848=) c.8541C= (p.Asn2847=) c.8322C= (p.Asn2774=) c.6531C= (p.Asn2177=) c.6081C= (p.Asn2027=) c.5289C= (p.Asn1763=) c.8451C= (p.Asn2817=) | |
| 8 | g.60865393C>G | CA371309570 | CHD7 | n.1630C>G n.561C>G c.*1513C>G (n.*1513C>G) c.8454C>G (p.Asn2818Lys) c.2307C>G (p.Asn769Lys) n.500C>G c.8544C>G (p.Asn2848Lys) c.8541C>G (p.Asn2847Lys) c.8322C>G (p.Asn2774Lys) c.6531C>G (p.Asn2177Lys) c.6081C>G (p.Asn2027Lys) c.5289C>G (p.Asn1763Lys) c.8451C>G (p.Asn2817Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60865393C>T | CA461106053 | CHD7 | n.1630C>T n.561C>T c.*1513C>T (n.*1513C>T) c.8454C>T (p.Asn2818=) c.2307C>T (p.Asn769=) n.500C>T c.8544C>T (p.Asn2848=) c.8541C>T (p.Asn2847=) c.8322C>T (p.Asn2774=) c.6531C>T (p.Asn2177=) c.6081C>T (p.Asn2027=) c.5289C>T (p.Asn1763=) c.8451C>T (p.Asn2817=) | ClinVar gnomAD v4 |
| 8 | g.60865395del | CA2573053046 | CHD7 | n.1632del n.563del c.*1515del (n.*1515del) c.8456del (p.Pro2819LeufsTer?) c.2309del (p.Pro770LeufsTer?) n.502del c.8546del (p.Pro2849LeufsTer?) c.8543del (p.Pro2848LeufsTer?) c.8324del (p.Pro2775LeufsTer?) c.6533del (p.Pro2178LeufsTer?) c.6083del (p.Pro2028LeufsTer?) c.5291del (p.Pro1764LeufsTer?) c.8453del (p.Pro2818LeufsTer?) | ClinVar dbSNP |
| 8 | g.60865394C>A | CA371309577 | CHD7 | n.1631C>A n.562C>A c.*1514C>A (n.*1514C>A) c.8455C>A (p.Pro2819Thr) c.2308C>A (p.Pro770Thr) n.501C>A c.8545C>A (p.Pro2849Thr) c.8542C>A (p.Pro2848Thr) c.8323C>A (p.Pro2775Thr) c.6532C>A (p.Pro2178Thr) c.6082C>A (p.Pro2028Thr) c.5290C>A (p.Pro1764Thr) c.8452C>A (p.Pro2818Thr) | |
| 8 | g.60865394C>G | CA371309581 | CHD7 | n.1631C>G n.562C>G c.*1514C>G (n.*1514C>G) c.8455C>G (p.Pro2819Ala) c.2308C>G (p.Pro770Ala) n.501C>G c.8545C>G (p.Pro2849Ala) c.8542C>G (p.Pro2848Ala) c.8323C>G (p.Pro2775Ala) c.6532C>G (p.Pro2178Ala) c.6082C>G (p.Pro2028Ala) c.5290C>G (p.Pro1764Ala) c.8452C>G (p.Pro2818Ala) | |
| 8 | g.60865394C>T | CA371309584 | CHD7 | n.1631C>T n.562C>T c.*1514C>T (n.*1514C>T) c.8455C>T (p.Pro2819Ser) c.2308C>T (p.Pro770Ser) n.501C>T c.8545C>T (p.Pro2849Ser) c.8542C>T (p.Pro2848Ser) c.8323C>T (p.Pro2775Ser) c.6532C>T (p.Pro2178Ser) c.6082C>T (p.Pro2028Ser) c.5290C>T (p.Pro1764Ser) c.8452C>T (p.Pro2818Ser) | gnomAD v4 COSMIC |
| 8 | g.60865394_60865396delinsCCT | CA1788130256 | CHD7 | n.1631_1633delinsCCT n.562_564delinsCCT c.*1514_*1516delinsCCT (n.*1514_*1516delinsCCT) c.8455_8457delinsCCT (p.Pro2819=) c.2308_2310delinsCCT (p.Pro770=) n.501_503delinsCCT c.8545_8547delinsCCT (p.Pro2849=) c.8542_8544delinsCCT (p.Pro2848=) c.8323_8325delinsCCT (p.Pro2775=) c.6532_6534delinsCCT (p.Pro2178=) c.6082_6084delinsCCT (p.Pro2028=) c.5290_5292delinsCCT (p.Pro1764=) c.8452_8454delinsCCT (p.Pro2818=) | |
| 8 | g.60865395C>A | CA371309591 | CHD7 | n.1632C>A n.563C>A c.*1515C>A (n.*1515C>A) c.8456C>A (p.Pro2819His) c.2309C>A (p.Pro770His) n.502C>A c.8546C>A (p.Pro2849His) c.8543C>A (p.Pro2848His) c.8324C>A (p.Pro2775His) c.6533C>A (p.Pro2178His) c.6083C>A (p.Pro2028His) c.5291C>A (p.Pro1764His) c.8453C>A (p.Pro2818His) | |
| 8 | g.60865395C>G | CA371309594 | CHD7 | n.1632C>G n.563C>G c.*1515C>G (n.*1515C>G) c.8456C>G (p.Pro2819Arg) c.2309C>G (p.Pro770Arg) n.502C>G c.8546C>G (p.Pro2849Arg) c.8543C>G (p.Pro2848Arg) c.8324C>G (p.Pro2775Arg) c.6533C>G (p.Pro2178Arg) c.6083C>G (p.Pro2028Arg) c.5291C>G (p.Pro1764Arg) c.8453C>G (p.Pro2818Arg) | gnomAD v4 |
| 8 | g.60865395C>T | CA371309603 | CHD7 | n.1632C>T n.563C>T c.*1515C>T (n.*1515C>T) c.8456C>T (p.Pro2819Leu) c.2309C>T (p.Pro770Leu) n.502C>T c.8546C>T (p.Pro2849Leu) c.8543C>T (p.Pro2848Leu) c.8324C>T (p.Pro2775Leu) c.6533C>T (p.Pro2178Leu) c.6083C>T (p.Pro2028Leu) c.5291C>T (p.Pro1764Leu) c.8453C>T (p.Pro2818Leu) | |
| 8 | g.60865397_60865398dup | CA2695203183 | CHD7 | n.1634_1635dup n.565_566dup c.*1517_*1518dup (n.*1517_*1518dup) c.8458_8459dup (p.Ser2821CysfsTer?) c.2311_2312dup (p.Ser772CysfsTer?) n.504_505dup c.8548_8549dup (p.Ser2851CysfsTer?) c.8545_8546dup (p.Ser2850CysfsTer?) c.8326_8327dup (p.Ser2777CysfsTer?) c.6535_6536dup (p.Ser2180CysfsTer?) c.6085_6086dup (p.Ser2030CysfsTer?) c.5293_5294dup (p.Ser1766CysfsTer?) c.8455_8456dup (p.Ser2820CysfsTer?) | |
| 8 | g.60865397_60865398del | CA10602479 | CHD7 | n.1634_1635del n.565_566del c.*1517_*1518del (n.*1517_*1518del) c.8458_8459del (p.Leu2820ValfsTer12) c.2311_2312del (p.Leu771ValfsTer12) n.504_505del c.8548_8549del (p.Leu2850ValfsTer12) c.8545_8546del (p.Leu2849ValfsTer12) c.8326_8327del (p.Leu2776ValfsTer12) c.6535_6536del (p.Leu2179ValfsTer12) c.6085_6086del (p.Leu2029ValfsTer12) c.5293_5294del (p.Leu1765ValfsTer12) c.8455_8456del (p.Leu2819ValfsTer12) | ClinVar dbSNP |
| 8 | g.60865396T>A | CA461106058 | CHD7 | n.1633T>A n.564T>A c.*1516T>A (n.*1516T>A) c.8457T>A (p.Pro2819=) c.2310T>A (p.Pro770=) n.503T>A c.8547T>A (p.Pro2849=) c.8544T>A (p.Pro2848=) c.8325T>A (p.Pro2775=) c.6534T>A (p.Pro2178=) c.6084T>A (p.Pro2028=) c.5292T>A (p.Pro1764=) c.8454T>A (p.Pro2818=) | |
| 8 | g.60865396T>C | CA461106059 | CHD7 | n.1633T>C n.564T>C c.*1516T>C (n.*1516T>C) c.8457T>C (p.Pro2819=) c.2310T>C (p.Pro770=) n.503T>C c.8547T>C (p.Pro2849=) c.8544T>C (p.Pro2848=) c.8325T>C (p.Pro2775=) c.6534T>C (p.Pro2178=) c.6084T>C (p.Pro2028=) c.5292T>C (p.Pro1764=) c.8454T>C (p.Pro2818=) | |
| 8 | g.60865396T>G | CA461106060 | CHD7 | n.1633T>G n.564T>G c.*1516T>G (n.*1516T>G) c.8457T>G (p.Pro2819=) c.2310T>G (p.Pro770=) n.503T>G c.8547T>G (p.Pro2849=) c.8544T>G (p.Pro2848=) c.8325T>G (p.Pro2775=) c.6534T>G (p.Pro2178=) c.6084T>G (p.Pro2028=) c.5292T>G (p.Pro1764=) c.8454T>G (p.Pro2818=) | |
| 8 | g.60865397C>A | CA371309609 | CHD7 | n.1634C>A n.565C>A c.*1517C>A (n.*1517C>A) c.8458C>A (p.Leu2820Met) c.2311C>A (p.Leu771Met) n.504C>A c.8548C>A (p.Leu2850Met) c.8545C>A (p.Leu2849Met) c.8326C>A (p.Leu2776Met) c.6535C>A (p.Leu2179Met) c.6085C>A (p.Leu2029Met) c.5293C>A (p.Leu1765Met) c.8455C>A (p.Leu2819Met) | |
| 8 | g.60865397C= | CA1788130270 | CHD7 | n.1634C= n.565C= c.*1517C= (n.*1517C=) c.8458C= (p.Leu2820=) c.2311C= (p.Leu771=) n.504C= c.8548C= (p.Leu2850=) c.8545C= (p.Leu2849=) c.8326C= (p.Leu2776=) c.6535C= (p.Leu2179=) c.6085C= (p.Leu2029=) c.5293C= (p.Leu1765=) c.8455C= (p.Leu2819=) | |
| 8 | g.60865397C>G | CA371309613 | CHD7 | n.1634C>G n.565C>G c.*1517C>G (n.*1517C>G) c.8458C>G (p.Leu2820Val) c.2311C>G (p.Leu771Val) n.504C>G c.8548C>G (p.Leu2850Val) c.8545C>G (p.Leu2849Val) c.8326C>G (p.Leu2776Val) c.6535C>G (p.Leu2179Val) c.6085C>G (p.Leu2029Val) c.5293C>G (p.Leu1765Val) c.8455C>G (p.Leu2819Val) |