| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91281488C>A | CA487540796 | CCDC88C | c.4668G>T (p.Leu1556=) c.240G>T (p.Leu80=) n.333G>T c.896G>T c.4560G>T (p.Leu1520=) n.4796G>T c.1749G>T (p.Leu583=) n.4794G>T | |
| 14 | g.91281488C= | CA2154910486 | CCDC88C | c.4668G= (p.Leu1556=) c.240G= (p.Leu80=) n.333G= c.896G= c.4560G= (p.Leu1520=) n.4796G= c.1749G= (p.Leu583=) n.4794G= | |
| 14 | g.91281488C>G | CA487540797 | CCDC88C | c.4668G>C (p.Leu1556=) c.240G>C (p.Leu80=) n.333G>C c.896G>C c.4560G>C (p.Leu1520=) n.4796G>C c.1749G>C (p.Leu583=) n.4794G>C | |
| 14 | g.91281488C>T | CA7308899 | CCDC88C | c.4668G>A (p.Leu1556=) c.240G>A (p.Leu80=) n.333G>A c.896G>A c.4560G>A (p.Leu1520=) n.4796G>A c.1749G>A (p.Leu583=) n.4794G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91281489A>C | CA390613279 | CCDC88C | c.4667T>G (p.Leu1556Arg) c.239T>G (p.Leu80Arg) n.332T>G c.895T>G c.4559T>G (p.Leu1520Arg) n.4795T>G c.1748T>G (p.Leu583Arg) n.4793T>G | |
| 14 | g.91281489A>G | CA390613278 | CCDC88C | c.4667T>C (p.Leu1556Pro) c.239T>C (p.Leu80Pro) n.332T>C c.895T>C c.4559T>C (p.Leu1520Pro) n.4795T>C c.1748T>C (p.Leu583Pro) n.4793T>C | gnomAD v4 |
| 14 | g.91281489A>T | CA390613277 | CCDC88C | c.4667T>A (p.Leu1556Gln) c.239T>A (p.Leu80Gln) n.332T>A c.895T>A c.4559T>A (p.Leu1520Gln) n.4795T>A c.1748T>A (p.Leu583Gln) n.4793T>A | |
| 14 | g.91281490G>A | CA487540798 | CCDC88C | c.4666C>T (p.Leu1556=) c.238C>T (p.Leu80=) n.331C>T c.894C>T c.4558C>T (p.Leu1520=) n.4794C>T c.1747C>T (p.Leu583=) n.4792C>T | |
| 14 | g.91281490G>C | CA390613280 | CCDC88C | c.4666C>G (p.Leu1556Val) c.238C>G (p.Leu80Val) n.331C>G c.894C>G c.4558C>G (p.Leu1520Val) n.4794C>G c.1747C>G (p.Leu583Val) n.4792C>G | gnomAD v4 |
| 14 | g.91281490G>T | CA390613281 | CCDC88C | c.4666C>A (p.Leu1556Met) c.238C>A (p.Leu80Met) n.331C>A c.894C>A c.4558C>A (p.Leu1520Met) n.4794C>A c.1747C>A (p.Leu583Met) n.4792C>A | |
| 14 | g.91281491G>A | CA265527922 | CCDC88C | c.4665C>T (p.Ser1555=) c.237C>T (p.Ser79=) n.330C>T c.893C>T c.4557C>T (p.Ser1519=) n.4793C>T c.1746C>T (p.Ser582=) n.4791C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91281491G>C | CA487540800 | CCDC88C | c.4665C>G (p.Ser1555=) c.237C>G (p.Ser79=) n.330C>G c.893C>G c.4557C>G (p.Ser1519=) n.4793C>G c.1746C>G (p.Ser582=) n.4791C>G | |
| 14 | g.91281491G= | CA2154910487 | CCDC88C | c.4665C= (p.Ser1555=) c.237C= (p.Ser79=) n.330C= c.893C= c.4557C= (p.Ser1519=) n.4793C= c.1746C= (p.Ser582=) n.4791C= | |
| 14 | g.91281491G>T | CA487540799 | CCDC88C | c.4665C>A (p.Ser1555=) c.237C>A (p.Ser79=) n.330C>A c.893C>A c.4557C>A (p.Ser1519=) n.4793C>A c.1746C>A (p.Ser582=) n.4791C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.91281492G>A | CA390613282 | CCDC88C | c.4664C>T (p.Ser1555Phe) c.236C>T (p.Ser79Phe) n.329C>T c.892C>T c.4556C>T (p.Ser1519Phe) n.4792C>T c.1745C>T (p.Ser582Phe) n.4790C>T | |
| 14 | g.91281492G>C | CA390613284 | CCDC88C | c.4664C>G (p.Ser1555Cys) c.236C>G (p.Ser79Cys) n.329C>G c.892C>G c.4556C>G (p.Ser1519Cys) n.4792C>G c.1745C>G (p.Ser582Cys) n.4790C>G | dbSNP |
| 14 | g.91281492G= | CA2154910488 | CCDC88C | c.4664C= (p.Ser1555=) c.236C= (p.Ser79=) n.329C= c.892C= c.4556C= (p.Ser1519=) n.4792C= c.1745C= (p.Ser582=) n.4790C= | |
| 14 | g.91281492G>T | CA390613283 | CCDC88C | c.4664C>A (p.Ser1555Tyr) c.236C>A (p.Ser79Tyr) n.329C>A c.892C>A c.4556C>A (p.Ser1519Tyr) n.4792C>A c.1745C>A (p.Ser582Tyr) n.4790C>A | gnomAD v4 |
| 14 | g.91281493A= | CA2154910489 | CCDC88C | c.4663T= (p.Ser1555=) c.235T= (p.Ser79=) n.328T= c.891T= c.4555T= (p.Ser1519=) n.4791T= c.1744T= (p.Ser582=) n.4789T= | |
| 14 | g.91281493A>C | CA390613285 | CCDC88C | c.4663T>G (p.Ser1555Ala) c.235T>G (p.Ser79Ala) n.328T>G c.891T>G c.4555T>G (p.Ser1519Ala) n.4791T>G c.1744T>G (p.Ser582Ala) n.4789T>G | |
| 14 | g.91281493A>G | CA390613286 | CCDC88C | c.4663T>C (p.Ser1555Pro) c.235T>C (p.Ser79Pro) n.328T>C c.891T>C c.4555T>C (p.Ser1519Pro) n.4791T>C c.1744T>C (p.Ser582Pro) n.4789T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91281493A>T | CA390613287 | CCDC88C | c.4663T>A (p.Ser1555Thr) c.235T>A (p.Ser79Thr) n.328T>A c.891T>A c.4555T>A (p.Ser1519Thr) n.4791T>A c.1744T>A (p.Ser582Thr) n.4789T>A | gnomAD v4 |
| 14 | g.91281494T>A | CA487540801 | CCDC88C | c.4662A>T (p.Pro1554=) c.234A>T (p.Pro78=) n.327A>T c.890A>T c.4554A>T (p.Pro1518=) n.4790A>T c.1743A>T (p.Pro581=) n.4788A>T | ClinVar |
| 14 | g.91281494T>C | CA7308900 | CCDC88C | c.4662A>G (p.Pro1554=) c.234A>G (p.Pro78=) n.327A>G c.890A>G c.4554A>G (p.Pro1518=) n.4790A>G c.1743A>G (p.Pro581=) n.4788A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91281494T>G | CA487540802 | CCDC88C | c.4662A>C (p.Pro1554=) c.234A>C (p.Pro78=) n.327A>C c.890A>C c.4554A>C (p.Pro1518=) n.4790A>C c.1743A>C (p.Pro581=) n.4788A>C | |
| 14 | g.91281494T= | CA2154910490 | CCDC88C | c.4662A= (p.Pro1554=) c.234A= (p.Pro78=) n.327A= c.890A= c.4554A= (p.Pro1518=) n.4790A= c.1743A= (p.Pro581=) n.4788A= | |
| 14 | g.91281495G>A | CA7308901 | CCDC88C | c.4661C>T (p.Pro1554Leu) c.233C>T (p.Pro78Leu) n.326C>T c.889C>T c.4553C>T (p.Pro1518Leu) n.4789C>T c.1742C>T (p.Pro581Leu) n.4787C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91281495G>C | CA390613288 | CCDC88C | c.4661C>G (p.Pro1554Arg) c.233C>G (p.Pro78Arg) n.326C>G c.889C>G c.4553C>G (p.Pro1518Arg) n.4789C>G c.1742C>G (p.Pro581Arg) n.4787C>G | |
| 14 | g.91281495G= | CA2154910491 | CCDC88C | c.4661C= (p.Pro1554=) c.233C= (p.Pro78=) n.326C= c.889C= c.4553C= (p.Pro1518=) n.4789C= c.1742C= (p.Pro581=) n.4787C= | |
| 14 | g.91281495G>T | CA390613289 | CCDC88C | c.4661C>A (p.Pro1554Gln) c.233C>A (p.Pro78Gln) n.326C>A c.889C>A c.4553C>A (p.Pro1518Gln) n.4789C>A c.1742C>A (p.Pro581Gln) n.4787C>A | |
| 14 | g.91281496G>A | CA390613290 | CCDC88C | c.4660C>T (p.Pro1554Ser) c.232C>T (p.Pro78Ser) n.325C>T c.888C>T c.4552C>T (p.Pro1518Ser) n.4788C>T c.1741C>T (p.Pro581Ser) n.4786C>T | gnomAD v4 |
| 14 | g.91281496G>C | CA390613291 | CCDC88C | c.4660C>G (p.Pro1554Ala) c.232C>G (p.Pro78Ala) n.325C>G c.888C>G c.4552C>G (p.Pro1518Ala) n.4788C>G c.1741C>G (p.Pro581Ala) n.4786C>G | |
| 14 | g.91281496G>T | CA390613292 | CCDC88C | c.4660C>A (p.Pro1554Thr) c.232C>A (p.Pro78Thr) n.325C>A c.888C>A c.4552C>A (p.Pro1518Thr) n.4788C>A c.1741C>A (p.Pro581Thr) n.4786C>A | |
| 14 | g.91281497C>A | CA390613293 | CCDC88C | c.4659G>T (p.Glu1553Asp) c.231G>T (p.Glu77Asp) n.324G>T c.887G>T c.4551G>T (p.Glu1517Asp) n.4787G>T c.1740G>T (p.Glu580Asp) n.4785G>T | gnomAD v4 |
| 14 | g.91281497C>G | CA390613294 | CCDC88C | c.4659G>C (p.Glu1553Asp) c.231G>C (p.Glu77Asp) n.324G>C c.887G>C c.4551G>C (p.Glu1517Asp) n.4787G>C c.1740G>C (p.Glu580Asp) n.4785G>C | |
| 14 | g.91281497C>T | CA487540803 | CCDC88C | c.4659G>A (p.Glu1553=) c.231G>A (p.Glu77=) n.324G>A c.887G>A c.4551G>A (p.Glu1517=) n.4787G>A c.1740G>A (p.Glu580=) n.4785G>A | gnomAD v4 |
| 14 | g.91281498T>A | CA390613297 | CCDC88C | c.4658A>T (p.Glu1553Val) c.230A>T (p.Glu77Val) n.323A>T c.886A>T c.4550A>T (p.Glu1517Val) n.4786A>T c.1739A>T (p.Glu580Val) n.4784A>T | |
| 14 | g.91281498T>C | CA390613295 | CCDC88C | c.4658A>G (p.Glu1553Gly) c.230A>G (p.Glu77Gly) n.323A>G c.886A>G c.4550A>G (p.Glu1517Gly) n.4786A>G c.1739A>G (p.Glu580Gly) n.4784A>G | |
| 14 | g.91281498T>G | CA390613296 | CCDC88C | c.4658A>C (p.Glu1553Ala) c.230A>C (p.Glu77Ala) n.323A>C c.886A>C c.4550A>C (p.Glu1517Ala) n.4786A>C c.1739A>C (p.Glu580Ala) n.4784A>C | |
| 14 | g.91281499C>A | CA390613298 | CCDC88C | c.4657G>T (p.Glu1553Ter) c.229G>T (p.Glu77Ter) n.322G>T c.885G>T c.4549G>T (p.Glu1517Ter) n.4785G>T c.1738G>T (p.Glu580Ter) n.4783G>T | |
| 14 | g.91281499C>G | CA390613299 | CCDC88C | c.4657G>C (p.Glu1553Gln) c.229G>C (p.Glu77Gln) n.322G>C c.885G>C c.4549G>C (p.Glu1517Gln) n.4785G>C c.1738G>C (p.Glu580Gln) n.4783G>C | |
| 14 | g.91281499C>T | CA390613300 | CCDC88C | c.4657G>A (p.Glu1553Lys) c.229G>A (p.Glu77Lys) n.322G>A c.885G>A c.4549G>A (p.Glu1517Lys) n.4785G>A c.1738G>A (p.Glu580Lys) n.4783G>A | |
| 14 | g.91281500A>C | CA390613302 | CCDC88C | c.4656T>G (p.Cys1552Trp) c.228T>G (p.Cys76Trp) n.321T>G c.884T>G c.4548T>G (p.Cys1516Trp) n.4784T>G c.1737T>G (p.Cys579Trp) n.4782T>G | gnomAD v4 |
| 14 | g.91281500A>G | CA487540804 | CCDC88C | c.4656T>C (p.Cys1552=) c.228T>C (p.Cys76=) n.321T>C c.884T>C c.4548T>C (p.Cys1516=) n.4784T>C c.1737T>C (p.Cys579=) n.4782T>C | |
| 14 | g.91281500A>T | CA390613303 | CCDC88C | c.4656T>A (p.Cys1552Ter) c.228T>A (p.Cys76Ter) n.321T>A c.884T>A c.4548T>A (p.Cys1516Ter) n.4784T>A c.1737T>A (p.Cys579Ter) n.4782T>A | |
| 14 | g.91281501C>A | CA390613305 | CCDC88C | c.4655G>T (p.Cys1552Phe) c.227G>T (p.Cys76Phe) n.320G>T c.883G>T c.4547G>T (p.Cys1516Phe) n.4783G>T c.1736G>T (p.Cys579Phe) n.4781G>T | |
| 14 | g.91281501C>G | CA390613307 | CCDC88C | c.4655G>C (p.Cys1552Ser) c.227G>C (p.Cys76Ser) n.320G>C c.883G>C c.4547G>C (p.Cys1516Ser) n.4783G>C c.1736G>C (p.Cys579Ser) n.4781G>C | |
| 14 | g.91281501C>T | CA390613309 | CCDC88C | c.4655G>A (p.Cys1552Tyr) c.227G>A (p.Cys76Tyr) n.320G>A c.883G>A c.4547G>A (p.Cys1516Tyr) n.4783G>A c.1736G>A (p.Cys579Tyr) n.4781G>A | |
| 14 | g.91281502A>C | CA390613311 | CCDC88C | c.4654T>G (p.Cys1552Gly) c.226T>G (p.Cys76Gly) n.319T>G c.882T>G c.4546T>G (p.Cys1516Gly) n.4782T>G c.1735T>G (p.Cys579Gly) n.4780T>G | |
| 14 | g.91281502A>G | CA390613313 | CCDC88C | c.4654T>C (p.Cys1552Arg) c.226T>C (p.Cys76Arg) n.319T>C c.882T>C c.4546T>C (p.Cys1516Arg) n.4782T>C c.1735T>C (p.Cys579Arg) n.4780T>C |