| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186015385T>A | CA343885875 | HMCN1 | c.4857T>A (p.His1619Gln) c.2880T>A (p.His960Gln) | |
| 1 | g.186015385T>C | CA1292116 | HMCN1 | c.4857T>C (p.His1619=) c.2880T>C (p.His960=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186015385T>G | CA343885891 | HMCN1 | c.4857T>G (p.His1619Gln) c.2880T>G (p.His960Gln) | |
| 1 | g.186015385T= | CA1140080476 | HMCN1 | c.4857T= (p.His1619=) c.2880T= (p.His960=) | |
| 1 | g.186015385_186015386delinsCA | CA2580061671 | HMCN1 | c.4857_4858delinsCA (p.Val1620Ile) c.2880_2881delinsCA (p.Val961Ile) | ClinVar |
| 1 | g.186015386G>A | CA1292117 | HMCN1 | c.4858G>A (p.Val1620Ile) c.2881G>A (p.Val961Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186015386G>C | CA343885902 | HMCN1 | c.4858G>C (p.Val1620Leu) c.2881G>C (p.Val961Leu) | |
| 1 | g.186015386G= | CA1142970146 | HMCN1 | c.4858G= (p.Val1620=) c.2881G= (p.Val961=) | |
| 1 | g.186015386G>T | CA343885911 | HMCN1 | c.4858G>T (p.Val1620Leu) c.2881G>T (p.Val961Leu) | gnomAD v4 |
| 1 | g.186015387T>A | CA343885916 | HMCN1 | c.4859T>A (p.Val1620Glu) c.2882T>A (p.Val961Glu) | |
| 1 | g.186015387T>C | CA343885918 | HMCN1 | c.4859T>C (p.Val1620Ala) c.2882T>C (p.Val961Ala) | ClinVar |
| 1 | g.186015387T>G | CA343885919 | HMCN1 | c.4859T>G (p.Val1620Gly) c.2882T>G (p.Val961Gly) | |
| 1 | g.186015388A>C | CA422327241 | HMCN1 | c.4860A>C (p.Val1620=) c.2883A>C (p.Val961=) | |
| 1 | g.186015388A>G | CA422327243 | HMCN1 | c.4860A>G (p.Val1620=) c.2883A>G (p.Val961=) | |
| 1 | g.186015388A>T | CA422327242 | HMCN1 | c.4860A>T (p.Val1620=) c.2883A>T (p.Val961=) | |
| 1 | g.186015389G>A | CA343885921 | HMCN1 | c.4861G>A (p.Ala1621Thr) c.2884G>A (p.Ala962Thr) | |
| 1 | g.186015389G>C | CA343885923 | HMCN1 | c.4861G>C (p.Ala1621Pro) c.2884G>C (p.Ala962Pro) | |
| 1 | g.186015389G>T | CA343885925 | HMCN1 | c.4861G>T (p.Ala1621Ser) c.2884G>T (p.Ala962Ser) | |
| 1 | g.186015389_186015391del | CA2840507472 | HMCN1 | c.4861_4863del (p.Ala1621del) c.2884_2886del (p.Ala962del) | |
| 1 | g.186015390C>A | CA343885931 | HMCN1 | c.4862C>A (p.Ala1621Asp) c.2885C>A (p.Ala962Asp) | |
| 1 | g.186015390C>G | CA343885940 | HMCN1 | c.4862C>G (p.Ala1621Gly) c.2885C>G (p.Ala962Gly) | |
| 1 | g.186015390C>T | CA343885929 | HMCN1 | c.4862C>T (p.Ala1621Val) c.2885C>T (p.Ala962Val) | |
| 1 | g.186015391C>A | CA422327245 | HMCN1 | c.4863C>A (p.Ala1621=) c.2886C>A (p.Ala962=) | |
| 1 | g.186015391C>G | CA422327246 | HMCN1 | c.4863C>G (p.Ala1621=) c.2886C>G (p.Ala962=) | |
| 1 | g.186015391C>T | CA422327247 | HMCN1 | c.4863C>T (p.Ala1621=) c.2886C>T (p.Ala962=) | |
| 1 | g.186015392A= | CA1149115322 | HMCN1 | c.4864A= (p.Asn1622=) c.2887A= (p.Asn963=) | |
| 1 | g.186015392A>C | CA1292118 | HMCN1 | c.4864A>C (p.Asn1622His) c.2887A>C (p.Asn963His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186015392A>G | CA343885967 | HMCN1 | c.4864A>G (p.Asn1622Asp) c.2887A>G (p.Asn963Asp) | dbSNP gnomAD v4 |
| 1 | g.186015392A>T | CA343885977 | HMCN1 | c.4864A>T (p.Asn1622Tyr) c.2887A>T (p.Asn963Tyr) | |
| 1 | g.186015393A= | CA1212962636 | HMCN1 | c.4865A= (p.Asn1622=) c.2888A= (p.Asn963=) | |
| 1 | g.186015393A>C | CA343885987 | HMCN1 | c.4865A>C (p.Asn1622Thr) c.2888A>C (p.Asn963Thr) | dbSNP |
| 1 | g.186015393A>G | CA1292119 | HMCN1 | c.4865A>G (p.Asn1622Ser) c.2888A>G (p.Asn963Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186015393A>T | CA343885995 | HMCN1 | c.4865A>T (p.Asn1622Ile) c.2888A>T (p.Asn963Ile) | |
| 1 | g.186015394T>A | CA343885999 | HMCN1 | c.4866T>A (p.Asn1622Lys) c.2889T>A (p.Asn963Lys) | |
| 1 | g.186015394T>C | CA422327248 | HMCN1 | c.4866T>C (p.Asn1622=) c.2889T>C (p.Asn963=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186015394T>G | CA343886001 | HMCN1 | c.4866T>G (p.Asn1622Lys) c.2889T>G (p.Asn963Lys) | |
| 1 | g.186015394T= | CA1212962637 | HMCN1 | c.4866T= (p.Asn1622=) c.2889T= (p.Asn963=) | |
| 1 | g.186015395G>A | CA343886005 | HMCN1 | c.4867G>A (p.Val1623Ile) c.2890G>A (p.Val964Ile) | |
| 1 | g.186015395G>C | CA343886010 | HMCN1 | c.4867G>C (p.Val1623Leu) c.2890G>C (p.Val964Leu) | |
| 1 | g.186015395G>T | CA343886013 | HMCN1 | c.4867G>T (p.Val1623Phe) c.2890G>T (p.Val964Phe) | |
| 1 | g.186015396T>A | CA343886019 | HMCN1 | c.4868T>A (p.Val1623Asp) c.2891T>A (p.Val964Asp) | |
| 1 | g.186015396T>C | CA343886023 | HMCN1 | c.4868T>C (p.Val1623Ala) c.2891T>C (p.Val964Ala) | gnomAD v4 |
| 1 | g.186015396T>G | CA343886026 | HMCN1 | c.4868T>G (p.Val1623Gly) c.2891T>G (p.Val964Gly) | |
| 1 | g.186015397T>A | CA422327249 | HMCN1 | c.4869T>A (p.Val1623=) c.2892T>A (p.Val964=) | |
| 1 | g.186015397T>C | CA422327250 | HMCN1 | c.4869T>C (p.Val1623=) c.2892T>C (p.Val964=) | |
| 1 | g.186015397T>G | CA422327251 | HMCN1 | c.4869T>G (p.Val1623=) c.2892T>G (p.Val964=) | |
| 1 | g.186015398G>A | CA343886034 | HMCN1 | c.4870G>A (p.Ala1624Thr) c.2893G>A (p.Ala965Thr) | gnomAD v4 COSMIC |
| 1 | g.186015398G>C | CA343886043 | HMCN1 | c.4870G>C (p.Ala1624Pro) c.2893G>C (p.Ala965Pro) | |
| 1 | g.186015398G= | CA1212962638 | HMCN1 | c.4870G= (p.Ala1624=) c.2893G= (p.Ala965=) | |
| 1 | g.186015398G>T | CA343886032 | HMCN1 | c.4870G>T (p.Ala1624Ser) c.2893G>T (p.Ala965Ser) | dbSNP gnomAD v2 gnomAD v4 |