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 |
|---|---|---|---|---|---|
| 16 | g.3729191_3729210dup | CA2695222623 | CREBBP | c.5838_5857dup (p.Pro1953HisfsTer30) c.5724_5743dup (p.Pro1915HisfsTer30) c.5793_5812dup (p.Pro1938HisfsTer30) c.5421_5440dup (p.Pro1814HisfsTer30) c.5577_5596dup (p.Pro1866HisfsTer30) c.5784_5803dup (p.Pro1935HisfsTer30) c.5085_5104dup (p.Pro1702HisfsTer30) c.5832_5851dup (p.Pro1951HisfsTer30) | |
| 16 | g.3729200_3729265del | CA2631403618 | CREBBP | c.5790_5855del (p.Thr1931_Pro1952del) c.5676_5741del (p.Thr1893_Pro1914del) c.5745_5810del (p.Thr1916_Pro1937del) c.5373_5438del (p.Thr1792_Pro1813del) c.5529_5594del (p.Thr1844_Pro1865del) c.5736_5801del (p.Thr1913_Pro1934del) c.5037_5102del (p.Thr1680_Pro1701del) c.5784_5849del (p.Thr1929_Pro1950del) | gnomAD v4 |
| 16 | g.3729198_3729213delinsTGGGCCGGGGGTGGGG | CA2202916279 | CREBBP | c.5834_5849delinsCCCCACCCCCGGCCCA (p.Pro1945=) c.5720_5735delinsCCCCACCCCCGGCCCA (p.Pro1907=) c.5789_5804delinsCCCCACCCCCGGCCCA (p.Pro1930=) c.5417_5432delinsCCCCACCCCCGGCCCA (p.Pro1806=) c.5573_5588delinsCCCCACCCCCGGCCCA (p.Pro1858=) c.5780_5795delinsCCCCACCCCCGGCCCA (p.Pro1927=) c.5081_5096delinsCCCCACCCCCGGCCCA (p.Pro1694=) c.5828_5843delinsCCCCACCCCCGGCCCA (p.Pro1943=) | |
| 16 | g.3729206_3729220del | CA2202916281 | CREBBP | c.5834_5848del (p.Pro1945_Ala1949del) c.5720_5734del (p.Pro1907_Ala1911del) c.5789_5803del (p.Pro1930_Ala1934del) c.5417_5431del (p.Pro1806_Ala1810del) c.5573_5587del (p.Pro1858_Ala1862del) c.5780_5794del (p.Pro1927_Ala1931del) c.5081_5095del (p.Pro1694_Ala1698del) c.5828_5842del (p.Pro1943_Ala1947del) | dbSNP gnomAD v4 |
| 16 | g.3729202_3729204dup | CA2573054229 | CREBBP | c.5844_5846dup (p.Ala1949_Gln1950insAla) c.5730_5732dup (p.Ala1911_Gln1912insAla) c.5799_5801dup (p.Ala1934_Gln1935insAla) c.5427_5429dup (p.Ala1810_Gln1811insAla) c.5583_5585dup (p.Ala1862_Gln1863insAla) c.5790_5792dup (p.Ala1931_Gln1932insAla) c.5091_5093dup (p.Ala1698_Gln1699insAla) c.5838_5840dup (p.Ala1947_Gln1948insAla) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3729202_3729203del | CA2631403620 | CREBBP | c.5844_5845del (p.Ala1949ProfsTer16) c.5730_5731del (p.Ala1911ProfsTer16) c.5799_5800del (p.Ala1934ProfsTer16) c.5427_5428del (p.Ala1810ProfsTer16) c.5583_5584del (p.Ala1862ProfsTer16) c.5790_5791del (p.Ala1931ProfsTer16) c.5091_5092del (p.Ala1698ProfsTer16) c.5838_5839del (p.Ala1947ProfsTer16) | gnomAD v4 |
| 16 | g.3729203dup | CA915949066 | CREBBP | c.5845dup (p.Ala1949GlyfsTer17) c.5731dup (p.Ala1911GlyfsTer17) c.5800dup (p.Ala1934GlyfsTer17) c.5428dup (p.Ala1810GlyfsTer17) c.5584dup (p.Ala1862GlyfsTer17) c.5791dup (p.Ala1931GlyfsTer17) c.5092dup (p.Ala1698GlyfsTer17) c.5839dup (p.Ala1947GlyfsTer17) | ClinVar dbSNP |
| 16 | g.3729202_3729213delinsCCGGGGGTGGGG | CA2202916284 | CREBBP | c.5834_5845delinsCCCCACCCCCGG (p.Pro1945=) c.5720_5731delinsCCCCACCCCCGG (p.Pro1907=) c.5789_5800delinsCCCCACCCCCGG (p.Pro1930=) c.5417_5428delinsCCCCACCCCCGG (p.Pro1806=) c.5573_5584delinsCCCCACCCCCGG (p.Pro1858=) c.5780_5791delinsCCCCACCCCCGG (p.Pro1927=) c.5081_5092delinsCCCCACCCCCGG (p.Pro1694=) c.5828_5839delinsCCCCACCCCCGG (p.Pro1943=) | |
| 16 | g.3729203C>A | CA493393911 | CREBBP | c.5844G>T (p.Pro1948=) c.5730G>T (p.Pro1910=) c.5799G>T (p.Pro1933=) c.5427G>T (p.Pro1809=) c.5583G>T (p.Pro1861=) c.5790G>T (p.Pro1930=) c.5091G>T (p.Pro1697=) c.5838G>T (p.Pro1946=) | dbSNP gnomAD v4 |
| 16 | g.3729203C= | CA2202916286 | CREBBP | c.5844G= (p.Pro1948=) c.5730G= (p.Pro1910=) c.5799G= (p.Pro1933=) c.5427G= (p.Pro1809=) c.5583G= (p.Pro1861=) c.5790G= (p.Pro1930=) c.5091G= (p.Pro1697=) c.5838G= (p.Pro1946=) | |
| 16 | g.3729203C>G | CA493393912 | CREBBP | c.5844G>C (p.Pro1948=) c.5730G>C (p.Pro1910=) c.5799G>C (p.Pro1933=) c.5427G>C (p.Pro1809=) c.5583G>C (p.Pro1861=) c.5790G>C (p.Pro1930=) c.5091G>C (p.Pro1697=) c.5838G>C (p.Pro1946=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729203C>T | CA7869237 | CREBBP | c.5844G>A (p.Pro1948=) c.5730G>A (p.Pro1910=) c.5799G>A (p.Pro1933=) c.5427G>A (p.Pro1809=) c.5583G>A (p.Pro1861=) c.5790G>A (p.Pro1930=) c.5091G>A (p.Pro1697=) c.5838G>A (p.Pro1946=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729203_3729213del | CA271431 | CREBBP | c.5834_5844del (p.Pro1945ArgfsTer17) c.5720_5730del (p.Pro1907ArgfsTer17) c.5789_5799del (p.Pro1930ArgfsTer17) c.5417_5427del (p.Pro1806ArgfsTer17) c.5573_5583del (p.Pro1858ArgfsTer17) c.5780_5790del (p.Pro1927ArgfsTer17) c.5081_5091del (p.Pro1694ArgfsTer17) c.5828_5838del (p.Pro1943ArgfsTer17) | ClinVar dbSNP |
| 16 | g.3729204G>A | CA243767 | CREBBP | c.5843C>T (p.Pro1948Leu) c.5729C>T (p.Pro1910Leu) c.5798C>T (p.Pro1933Leu) c.5426C>T (p.Pro1809Leu) c.5582C>T (p.Pro1861Leu) c.5789C>T (p.Pro1930Leu) c.5090C>T (p.Pro1697Leu) c.5837C>T (p.Pro1946Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729204G>C | CA394555263 | CREBBP | c.5843C>G (p.Pro1948Arg) c.5729C>G (p.Pro1910Arg) c.5798C>G (p.Pro1933Arg) c.5426C>G (p.Pro1809Arg) c.5582C>G (p.Pro1861Arg) c.5789C>G (p.Pro1930Arg) c.5090C>G (p.Pro1697Arg) c.5837C>G (p.Pro1946Arg) | dbSNP gnomAD v4 |
| 16 | g.3729204G= | CA2202916287 | CREBBP | c.5843C= (p.Pro1948=) c.5729C= (p.Pro1910=) c.5798C= (p.Pro1933=) c.5426C= (p.Pro1809=) c.5582C= (p.Pro1861=) c.5789C= (p.Pro1930=) c.5090C= (p.Pro1697=) c.5837C= (p.Pro1946=) | |
| 16 | g.3729204G>T | CA394555262 | CREBBP | c.5843C>A (p.Pro1948Gln) c.5729C>A (p.Pro1910Gln) c.5798C>A (p.Pro1933Gln) c.5426C>A (p.Pro1809Gln) c.5582C>A (p.Pro1861Gln) c.5789C>A (p.Pro1930Gln) c.5090C>A (p.Pro1697Gln) c.5837C>A (p.Pro1946Gln) | gnomAD v4 |
| 16 | g.3729208dup | CA2575893809 | CREBBP | c.5843dup (p.Ala1949GlyfsTer17) c.5729dup (p.Ala1911GlyfsTer17) c.5798dup (p.Ala1934GlyfsTer17) c.5426dup (p.Ala1810GlyfsTer17) c.5582dup (p.Ala1862GlyfsTer17) c.5789dup (p.Ala1931GlyfsTer17) c.5090dup (p.Ala1698GlyfsTer17) c.5837dup (p.Ala1947GlyfsTer17) | gnomAD v4 |
| 16 | g.3729208del | CA2631403621 | CREBBP | c.5843del (p.Pro1948ArgfsTer28) c.5729del (p.Pro1910ArgfsTer28) c.5798del (p.Pro1933ArgfsTer28) c.5426del (p.Pro1809ArgfsTer28) c.5582del (p.Pro1861ArgfsTer28) c.5789del (p.Pro1930ArgfsTer28) c.5090del (p.Pro1697ArgfsTer28) c.5837del (p.Pro1946ArgfsTer28) | gnomAD v4 |
| 16 | g.3729209_3729216del | CA2631403622 | CREBBP | c.5836_5843del (p.Pro1946GlyfsTer17) c.5722_5729del (p.Pro1908GlyfsTer17) c.5791_5798del (p.Pro1931GlyfsTer17) c.5419_5426del (p.Pro1807GlyfsTer17) c.5575_5582del (p.Pro1859GlyfsTer17) c.5782_5789del (p.Pro1928GlyfsTer17) c.5083_5090del (p.Pro1695GlyfsTer17) c.5830_5837del (p.Pro1944GlyfsTer17) | gnomAD v4 |
| 16 | g.3729205G>A | CA394555266 | CREBBP | c.5842C>T (p.Pro1948Ser) c.5728C>T (p.Pro1910Ser) c.5797C>T (p.Pro1933Ser) c.5425C>T (p.Pro1809Ser) c.5581C>T (p.Pro1861Ser) c.5788C>T (p.Pro1930Ser) c.5089C>T (p.Pro1697Ser) c.5836C>T (p.Pro1946Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729205G>C | CA394555268 | CREBBP | c.5842C>G (p.Pro1948Ala) c.5728C>G (p.Pro1910Ala) c.5797C>G (p.Pro1933Ala) c.5425C>G (p.Pro1809Ala) c.5581C>G (p.Pro1861Ala) c.5788C>G (p.Pro1930Ala) c.5089C>G (p.Pro1697Ala) c.5836C>G (p.Pro1946Ala) | dbSNP |
| 16 | g.3729205G= | CA2202916288 | CREBBP | c.5842C= (p.Pro1948=) c.5728C= (p.Pro1910=) c.5797C= (p.Pro1933=) c.5425C= (p.Pro1809=) c.5581C= (p.Pro1861=) c.5788C= (p.Pro1930=) c.5089C= (p.Pro1697=) c.5836C= (p.Pro1946=) | |
| 16 | g.3729205G>T | CA394555270 | CREBBP | c.5842C>A (p.Pro1948Thr) c.5728C>A (p.Pro1910Thr) c.5797C>A (p.Pro1933Thr) c.5425C>A (p.Pro1809Thr) c.5581C>A (p.Pro1861Thr) c.5788C>A (p.Pro1930Thr) c.5089C>A (p.Pro1697Thr) c.5836C>A (p.Pro1946Thr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3729206G>A | CA493393913 | CREBBP | c.5841C>T (p.Pro1947=) c.5727C>T (p.Pro1909=) c.5796C>T (p.Pro1932=) c.5424C>T (p.Pro1808=) c.5580C>T (p.Pro1860=) c.5787C>T (p.Pro1929=) c.5088C>T (p.Pro1696=) c.5835C>T (p.Pro1945=) | ClinVar dbSNP |
| 16 | g.3729206G>C | CA7869238 | CREBBP | c.5841C>G (p.Pro1947=) c.5727C>G (p.Pro1909=) c.5796C>G (p.Pro1932=) c.5424C>G (p.Pro1808=) c.5580C>G (p.Pro1860=) c.5787C>G (p.Pro1929=) c.5088C>G (p.Pro1696=) c.5835C>G (p.Pro1945=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3729206G= | CA2202916289 | CREBBP | c.5841C= (p.Pro1947=) c.5727C= (p.Pro1909=) c.5796C= (p.Pro1932=) c.5424C= (p.Pro1808=) c.5580C= (p.Pro1860=) c.5787C= (p.Pro1929=) c.5088C= (p.Pro1696=) c.5835C= (p.Pro1945=) | |
| 16 | g.3729206G>T | CA493393914 | CREBBP | c.5841C>A (p.Pro1947=) c.5727C>A (p.Pro1909=) c.5796C>A (p.Pro1932=) c.5424C>A (p.Pro1808=) c.5580C>A (p.Pro1860=) c.5787C>A (p.Pro1929=) c.5088C>A (p.Pro1696=) c.5835C>A (p.Pro1945=) | dbSNP gnomAD v4 |
| 16 | g.3729207G>A | CA394555273 | CREBBP | c.5840C>T (p.Pro1947Leu) c.5726C>T (p.Pro1909Leu) c.5795C>T (p.Pro1932Leu) c.5423C>T (p.Pro1808Leu) c.5579C>T (p.Pro1860Leu) c.5786C>T (p.Pro1929Leu) c.5087C>T (p.Pro1696Leu) c.5834C>T (p.Pro1945Leu) | dbSNP gnomAD v4 |
| 16 | g.3729207G>C | CA394555275 | CREBBP | c.5840C>G (p.Pro1947Arg) c.5726C>G (p.Pro1909Arg) c.5795C>G (p.Pro1932Arg) c.5423C>G (p.Pro1808Arg) c.5579C>G (p.Pro1860Arg) c.5786C>G (p.Pro1929Arg) c.5087C>G (p.Pro1696Arg) c.5834C>G (p.Pro1945Arg) | dbSNP |
| 16 | g.3729207G>T | CA394555277 | CREBBP | c.5840C>A (p.Pro1947His) c.5726C>A (p.Pro1909His) c.5795C>A (p.Pro1932His) c.5423C>A (p.Pro1808His) c.5579C>A (p.Pro1860His) c.5786C>A (p.Pro1929His) c.5087C>A (p.Pro1696His) c.5834C>A (p.Pro1945His) | dbSNP gnomAD v4 |
| 16 | g.3729208G>A | CA7869239 | CREBBP | c.5839C>T (p.Pro1947Ser) c.5725C>T (p.Pro1909Ser) c.5794C>T (p.Pro1932Ser) c.5422C>T (p.Pro1808Ser) c.5578C>T (p.Pro1860Ser) c.5785C>T (p.Pro1929Ser) c.5086C>T (p.Pro1696Ser) c.5833C>T (p.Pro1945Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729208G>C | CA394555280 | CREBBP | c.5839C>G (p.Pro1947Ala) c.5725C>G (p.Pro1909Ala) c.5794C>G (p.Pro1932Ala) c.5422C>G (p.Pro1808Ala) c.5578C>G (p.Pro1860Ala) c.5785C>G (p.Pro1929Ala) c.5086C>G (p.Pro1696Ala) c.5833C>G (p.Pro1945Ala) | gnomAD v4 |
| 16 | g.3729208G= | CA2202916290 | CREBBP | c.5839C= (p.Pro1947=) c.5725C= (p.Pro1909=) c.5794C= (p.Pro1932=) c.5422C= (p.Pro1808=) c.5578C= (p.Pro1860=) c.5785C= (p.Pro1929=) c.5086C= (p.Pro1696=) c.5833C= (p.Pro1945=) | |
| 16 | g.3729208G>T | CA394555282 | CREBBP | c.5839C>A (p.Pro1947Thr) c.5725C>A (p.Pro1909Thr) c.5794C>A (p.Pro1932Thr) c.5422C>A (p.Pro1808Thr) c.5578C>A (p.Pro1860Thr) c.5785C>A (p.Pro1929Thr) c.5086C>A (p.Pro1696Thr) c.5833C>A (p.Pro1945Thr) | ClinVar gnomAD v4 |
| 16 | g.3729212_3729246del | CA2631403623 | CREBBP | c.5805_5839del (p.Gly1936ProfsTer18) c.5691_5725del (p.Gly1898ProfsTer18) c.5760_5794del (p.Gly1921ProfsTer18) c.5388_5422del (p.Gly1797ProfsTer18) c.5544_5578del (p.Gly1849ProfsTer18) c.5751_5785del (p.Gly1918ProfsTer18) c.5052_5086del (p.Gly1685ProfsTer18) c.5799_5833del (p.Gly1934ProfsTer18) | gnomAD v4 |
| 16 | g.3729209del | CA2631403624 | CREBBP | c.5838del (p.Pro1948ArgfsTer28) c.5724del (p.Pro1910ArgfsTer28) c.5793del (p.Pro1933ArgfsTer28) c.5421del (p.Pro1809ArgfsTer28) c.5577del (p.Pro1861ArgfsTer28) c.5784del (p.Pro1930ArgfsTer28) c.5085del (p.Pro1697ArgfsTer28) c.5832del (p.Pro1946ArgfsTer28) | gnomAD v4 |
| 16 | g.3729209T>A | CA493393915 | CREBBP | c.5838A>T (p.Pro1946=) c.5724A>T (p.Pro1908=) c.5793A>T (p.Pro1931=) c.5421A>T (p.Pro1807=) c.5577A>T (p.Pro1859=) c.5784A>T (p.Pro1928=) c.5085A>T (p.Pro1695=) c.5832A>T (p.Pro1944=) | gnomAD v4 |
| 16 | g.3729209T>C | CA493393916 | CREBBP | c.5838A>G (p.Pro1946=) c.5724A>G (p.Pro1908=) c.5793A>G (p.Pro1931=) c.5421A>G (p.Pro1807=) c.5577A>G (p.Pro1859=) c.5784A>G (p.Pro1928=) c.5085A>G (p.Pro1695=) c.5832A>G (p.Pro1944=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3729209T>G | CA493393917 | CREBBP | c.5838A>C (p.Pro1946=) c.5724A>C (p.Pro1908=) c.5793A>C (p.Pro1931=) c.5421A>C (p.Pro1807=) c.5577A>C (p.Pro1859=) c.5784A>C (p.Pro1928=) c.5085A>C (p.Pro1695=) c.5832A>C (p.Pro1944=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3729209T= | CA2202916292 | CREBBP | c.5838A= (p.Pro1946=) c.5724A= (p.Pro1908=) c.5793A= (p.Pro1931=) c.5421A= (p.Pro1807=) c.5577A= (p.Pro1859=) c.5784A= (p.Pro1928=) c.5085A= (p.Pro1695=) c.5832A= (p.Pro1944=) | |
| 16 | g.3729209_3729210delinsTG | CA2202916291 | CREBBP | c.5837_5838delinsCA (p.Pro1946=) c.5723_5724delinsCA (p.Pro1908=) c.5792_5793delinsCA (p.Pro1931=) c.5420_5421delinsCA (p.Pro1807=) c.5576_5577delinsCA (p.Pro1859=) c.5783_5784delinsCA (p.Pro1928=) c.5084_5085delinsCA (p.Pro1695=) c.5831_5832delinsCA (p.Pro1944=) | |
| 16 | g.3729210G>A | CA394555294 | CREBBP | c.5837C>T (p.Pro1946Leu) c.5723C>T (p.Pro1908Leu) c.5792C>T (p.Pro1931Leu) c.5420C>T (p.Pro1807Leu) c.5576C>T (p.Pro1859Leu) c.5783C>T (p.Pro1928Leu) c.5084C>T (p.Pro1695Leu) c.5831C>T (p.Pro1944Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729210G>C | CA394555296 | CREBBP | c.5837C>G (p.Pro1946Arg) c.5723C>G (p.Pro1908Arg) c.5792C>G (p.Pro1931Arg) c.5420C>G (p.Pro1807Arg) c.5576C>G (p.Pro1859Arg) c.5783C>G (p.Pro1928Arg) c.5084C>G (p.Pro1695Arg) c.5831C>G (p.Pro1944Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729210G= | CA2202916293 | CREBBP | c.5837C= (p.Pro1946=) c.5723C= (p.Pro1908=) c.5792C= (p.Pro1931=) c.5420C= (p.Pro1807=) c.5576C= (p.Pro1859=) c.5783C= (p.Pro1928=) c.5084C= (p.Pro1695=) c.5831C= (p.Pro1944=) | |
| 16 | g.3729210G>T | CA7869240 | CREBBP | c.5837C>A (p.Pro1946Gln) c.5723C>A (p.Pro1908Gln) c.5792C>A (p.Pro1931Gln) c.5420C>A (p.Pro1807Gln) c.5576C>A (p.Pro1859Gln) c.5783C>A (p.Pro1928Gln) c.5084C>A (p.Pro1695Gln) c.5831C>A (p.Pro1944Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3729216dup | CA277424 | CREBBP | c.5837dup (p.Pro1947ThrfsTer19) c.5723dup (p.Pro1909ThrfsTer19) c.5792dup (p.Pro1932ThrfsTer19) c.5420dup (p.Pro1808ThrfsTer19) c.5576dup (p.Pro1860ThrfsTer19) c.5783dup (p.Pro1929ThrfsTer19) c.5084dup (p.Pro1696ThrfsTer19) c.5831dup (p.Pro1945ThrfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729215_3729216dup | CA2805633015 | CREBBP | c.5836_5837dup (p.Pro1947HisfsTer30) c.5722_5723dup (p.Pro1909HisfsTer30) c.5791_5792dup (p.Pro1932HisfsTer30) c.5419_5420dup (p.Pro1808HisfsTer30) c.5575_5576dup (p.Pro1860HisfsTer30) c.5782_5783dup (p.Pro1929HisfsTer30) c.5083_5084dup (p.Pro1696HisfsTer30) c.5830_5831dup (p.Pro1945HisfsTer30) | |
| 16 | g.3729216del | CA271432 | CREBBP | c.5837del (p.Pro1946HisfsTer30) c.5723del (p.Pro1908HisfsTer30) c.5792del (p.Pro1931HisfsTer30) c.5420del (p.Pro1807HisfsTer30) c.5576del (p.Pro1859HisfsTer30) c.5783del (p.Pro1928HisfsTer30) c.5084del (p.Pro1695HisfsTer30) c.5831del (p.Pro1944HisfsTer30) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 16 | g.3729212_3729220del | CA2580618128 | CREBBP | c.5829_5837del (p.Ala1944_Pro1946del) c.5715_5723del (p.Ala1906_Pro1908del) c.5784_5792del (p.Ala1929_Pro1931del) c.5412_5420del (p.Ala1805_Pro1807del) c.5568_5576del (p.Ala1857_Pro1859del) c.5775_5783del (p.Ala1926_Pro1928del) c.5076_5084del (p.Ala1693_Pro1695del) c.5823_5831del (p.Ala1942_Pro1944del) | ClinVar |