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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.87612272_87612273dup | CA553085311 | DSPP | c.136-50_136-49dup (n.136-50_136-49dup) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612273C= | CA1474384373 | DSPP | c.136-49C= (n.136-49C=) | |
| 4 | g.87612273C>T | CA100849285 | DSPP | c.136-49C>T (n.136-49C>T) | dbSNP |
| 4 | g.87612274C>A | CA2740550360 | DSPP | c.136-48C>A (n.136-48C>A) | |
| 4 | g.87612274C= | CA1474384374 | DSPP | c.136-48C= (n.136-48C=) | |
| 4 | g.87612274C>T | CA3000830 | DSPP | c.136-48C>T (n.136-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612275_87612278dup | CA2671358377 | DSPP | c.136-47_136-44dup (n.136-47_136-44dup) | gnomAD v4 |
| 4 | g.87612277_87612286del | CA2671358378 | DSPP | c.136-45_136-36del (n.136-45_136-36del) | gnomAD v4 |
| 4 | g.87612277C= | CA1474384375 | DSPP | c.136-45C= (n.136-45C=) | |
| 4 | g.87612277C>T | CA553085312 | DSPP | c.136-45C>T (n.136-45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612278A>G | CA2671358379 | DSPP | c.136-44A>G (n.136-44A>G) | gnomAD v4 |
| 4 | g.87612279A= | CA1474384376 | DSPP | c.136-43A= (n.136-43A=) | |
| 4 | g.87612279A>G | CA799577324 | DSPP | c.136-43A>G (n.136-43A>G) | dbSNP |
| 4 | g.87612280G>A | CA1474384378 | DSPP | c.136-42G>A (n.136-42G>A) | dbSNP |
| 4 | g.87612280G= | CA1474384377 | DSPP | c.136-42G= (n.136-42G=) | |
| 4 | g.87612280G>T | CA2671358380 | DSPP | c.136-42G>T (n.136-42G>T) | gnomAD v4 |
| 4 | g.87612283C>A | CA2706381780 | DSPP | c.136-39C>A (n.136-39C>A) | dbSNP |
| 4 | g.87612284A= | CA1474384379 | DSPP | c.136-38A= (n.136-38A=) | |
| 4 | g.87612284A>G | CA1474384380 | DSPP | c.136-38A>G (n.136-38A>G) | dbSNP gnomAD v4 |
| 4 | g.87612285T>C | CA553085316 | DSPP | c.136-37T>C (n.136-37T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612285T= | CA1474384381 | DSPP | c.136-37T= (n.136-37T=) | |
| 4 | g.87612287G>T | CA2762527066 | DSPP | c.136-35G>T (n.136-35G>T) | |
| 4 | g.87612288A= | CA1474384382 | DSPP | c.136-34A= (n.136-34A=) | |
| 4 | g.87612288A>C | CA3000831 | DSPP | c.136-34A>C (n.136-34A>C) | dbSNP ExAC gnomAD v2 |
| 4 | g.87612288A>G | CA3000832 | DSPP | c.136-34A>G (n.136-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612289T>A | CA799577336 | DSPP | c.136-33T>A (n.136-33T>A) | dbSNP |
| 4 | g.87612289T>C | CA3000833 | DSPP | c.136-33T>C (n.136-33T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612289T>G | CA2581430166 | DSPP | c.136-33T>G (n.136-33T>G) | |
| 4 | g.87612289T= | CA1474384383 | DSPP | c.136-33T= (n.136-33T=) | |
| 4 | g.87612290A= | CA1474384384 | DSPP | c.136-32A= (n.136-32A=) | |
| 4 | g.87612290A>G | CA553085318 | DSPP | c.136-32A>G (n.136-32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612291C>G | CA2671358381 | DSPP | c.136-31C>G (n.136-31C>G) | gnomAD v4 |
| 4 | g.87612293T>A | CA2581430167 | DSPP | c.136-29T>A (n.136-29T>A) | gnomAD v4 |
| 4 | g.87612293T>C | CA3000834 | DSPP | c.136-29T>C (n.136-29T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612293T>G | CA2581430168 | DSPP | c.136-29T>G (n.136-29T>G) | |
| 4 | g.87612293T= | CA1474384385 | DSPP | c.136-29T= (n.136-29T=) | |
| 4 | g.87612294A>C | CA2578139771 | DSPP | c.136-28A>C (n.136-28A>C) | |
| 4 | g.87612295T>C | CA3000835 | DSPP | c.136-27T>C (n.136-27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612295T= | CA1474384386 | DSPP | c.136-27T= (n.136-27T=) | |
| 4 | g.87612297A>C | CA2671358382 | DSPP | c.136-25A>C (n.136-25A>C) | gnomAD v4 |
| 4 | g.87612298T>A | CA1474384388 | DSPP | c.136-24T>A (n.136-24T>A) | dbSNP |
| 4 | g.87612298T>C | CA440294010 | DSPP | c.136-24T>C (n.136-24T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612298T= | CA1474384387 | DSPP | c.136-24T= (n.136-24T=) | |
| 4 | g.87612299T>C | CA2578139773 | DSPP | c.136-23T>C (n.136-23T>C) | gnomAD v4 |
| 4 | g.87612300G>A | CA3000836 | DSPP | c.136-22G>A (n.136-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612300G= | CA1474384389 | DSPP | c.136-22G= (n.136-22G=) | |
| 4 | g.87612300G>T | CA2561874717 | DSPP | c.136-22G>T (n.136-22G>T) | gnomAD v4 |
| 4 | g.87612302T>C | CA3000838 | DSPP | c.136-20T>C (n.136-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612302T= | CA1474384390 | DSPP | c.136-20T= (n.136-20T=) | |
| 4 | g.87612303T>C | CA2578139775 | DSPP | c.136-19T>C (n.136-19T>C) | gnomAD v4 |
| 4 | g.87612303T>G | CA3000839 | DSPP | c.136-19T>G (n.136-19T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612303T= | CA1474384391 | DSPP | c.136-19T= (n.136-19T=) | |
| 4 | g.87612304_87612307dup | CA3000837 | DSPP | c.136-18_136-15dup (n.136-18_136-15dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612304G>A | CA553085321 | DSPP | c.136-18G>A (n.136-18G>A) | dbSNP gnomAD v2 |
| 4 | g.87612304G>C | CA1474384392 | DSPP | c.136-18G>C (n.136-18G>C) | dbSNP |
| 4 | g.87612304G= | CA1474384393 | DSPP | c.136-18G= (n.136-18G=) | |
| 4 | g.87612304G>T | CA2578139777 | DSPP | c.136-18G>T (n.136-18G>T) | gnomAD v4 |
| 4 | g.87612307_87612331dup | CA2671358383 | DSPP | c.136-15_145dup | gnomAD v4 |
| 4 | g.87612306A= | CA1474384394 | DSPP | c.136-16A= (n.136-16A=) | |
| 4 | g.87612306A>G | CA553085322 | DSPP | c.136-16A>G (n.136-16A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612308T>G | CA100849353 | DSPP | c.136-14T>G (n.136-14T>G) | dbSNP |
| 4 | g.87612308T= | CA1474384395 | DSPP | c.136-14T= (n.136-14T=) | |
| 4 | g.87612309G>C | CA553085323 | DSPP | c.136-13G>C (n.136-13G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612309G= | CA1474384396 | DSPP | c.136-13G= (n.136-13G=) | |
| 4 | g.87612309G>T | CA100849360 | DSPP | c.136-13G>T (n.136-13G>T) | dbSNP |
| 4 | g.87612310T>C | CA2578139779 | DSPP | c.136-12T>C (n.136-12T>C) | |
| 4 | g.87612313C>A | CA2671358384 | DSPP | c.136-9C>A (n.136-9C>A) | gnomAD v4 |
| 4 | g.87612313C>T | CA2671358385 | DSPP | c.136-9C>T (n.136-9C>T) | gnomAD v4 |
| 4 | g.87612314T>A | CA1474384398 | DSPP | c.136-8T>A (n.136-8T>A) | dbSNP gnomAD v4 |
| 4 | g.87612314T= | CA1474384397 | DSPP | c.136-8T= (n.136-8T=) | |
| 4 | g.87612318T>C | CA2671358386 | DSPP | c.136-4T>C (n.136-4T>C) | gnomAD v4 |
| 4 | g.87612319C= | CA1474384399 | DSPP | c.136-3C= (n.136-3C=) | |
| 4 | g.87612319C>T | CA553085324 | DSPP | c.136-3C>T (n.136-3C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.87612320A>C | CA357602883 | DSPP | c.136-2A>C (n.136-2A>C) | |
| 4 | g.87612320A>G | CA357602884 | DSPP | c.136-2A>G (n.136-2A>G) | |
| 4 | g.87612320A>T | CA357602885 | DSPP | c.136-2A>T (n.136-2A>T) | |
| 4 | g.87612321G>A | CA357602886 | DSPP | c.136-1G>A (n.136-1G>A) | gnomAD v4 |
| 4 | g.87612321G>C | CA357602887 | DSPP | c.136-1G>C (n.136-1G>C) | |
| 4 | g.87612321G>T | CA357602888 | DSPP | c.136-1G>T (n.136-1G>T) | |
| 4 | g.87612322G>A | CA357602889 | DSPP | c.136G>A (p.Asp46Asn) | |
| 4 | g.87612322G>C | CA357602890 | DSPP | c.136G>C (p.Asp46His) | |
| 4 | g.87612322G>T | CA357602891 | DSPP | c.136G>T (p.Asp46Tyr) | |
| 4 | g.87612323A>C | CA357602892 | DSPP | c.137A>C (p.Asp46Ala) | |
| 4 | g.87612323A>G | CA357602893 | DSPP | c.137A>G (p.Asp46Gly) | |
| 4 | g.87612323A>T | CA357602894 | DSPP | c.137A>T (p.Asp46Val) | |
| 4 | g.87612324T>A | CA357602895 | DSPP | c.138T>A (p.Asp46Glu) | |
| 4 | g.87612324T>C | CA440294015 | DSPP | c.138T>C (p.Asp46=) | |
| 4 | g.87612324T>G | CA357602896 | DSPP | c.138T>G (p.Asp46Glu) | |
| 4 | g.87612325G>A | CA357602898 | DSPP | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612325G>C | CA357602899 | DSPP | c.139G>C (p.Glu47Gln) | |
| 4 | g.87612325G= | CA1474384400 | DSPP | c.139G= (p.Glu47=) | |
| 4 | g.87612325G>T | CA357602897 | DSPP | c.139G>T (p.Glu47Ter) | |
| 4 | g.87612326A>C | CA357602901 | DSPP | c.140A>C (p.Glu47Ala) | |
| 4 | g.87612326A>G | CA357602900 | DSPP | c.140A>G (p.Glu47Gly) | |
| 4 | g.87612326A>T | CA357602902 | DSPP | c.140A>T (p.Glu47Val) | |
| 4 | g.87612327G>A | CA440294020 | DSPP | c.141G>A (p.Glu47=) | |
| 4 | g.87612327G>C | CA357602903 | DSPP | c.141G>C (p.Glu47Asp) | |
| 4 | g.87612327G>T | CA357602904 | DSPP | c.141G>T (p.Glu47Asp) | |
| 4 | g.87612328T>A | CA357602905 | DSPP | c.142T>A (p.Leu48Ile) | |
| 4 | g.87612328T>C | CA440294023 | DSPP | c.142T>C (p.Leu48=) | |
| 4 | g.87612328T>G | CA357602906 | DSPP | c.142T>G (p.Leu48Val) | |
| 4 | g.87612329_87612330insTTTTTTT | CA2762527067 | DSPP | c.143_144insTTTTTTT (p.Leu48PhefsTer18) | |
| 4 | g.87612329T>A | CA357602907 | DSPP | c.143T>A (p.Leu48Ter) | |
| 4 | g.87612329T>C | CA357602908 | DSPP | c.143T>C (p.Leu48Ser) | |
| 4 | g.87612329T>G | CA357602909 | DSPP | c.143T>G (p.Leu48Ter) | |
| 4 | g.87612330A= | CA1474384401 | DSPP | c.144A= (p.Leu48=) | |
| 4 | g.87612330A>C | CA357602910 | DSPP | c.144A>C (p.Leu48Phe) | |
| 4 | g.87612330A>G | CA3000840 | DSPP | c.144A>G (p.Leu48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612330A>T | CA357602911 | DSPP | c.144A>T (p.Leu48Phe) | |
| 4 | g.87612331A>C | CA357602912 | DSPP | c.145A>C (p.Asn49His) | |
| 4 | g.87612331A>G | CA357602913 | DSPP | c.145A>G (p.Asn49Asp) | |
| 4 | g.87612331A>T | CA357602914 | DSPP | c.145A>T (p.Asn49Tyr) | |
| 4 | g.87612332A>C | CA357602917 | DSPP | c.146A>C (p.Asn49Thr) | |
| 4 | g.87612332A>G | CA357602915 | DSPP | c.146A>G (p.Asn49Ser) | |
| 4 | g.87612332A>T | CA357602916 | DSPP | c.146A>T (p.Asn49Ile) | |
| 4 | g.87612333T>A | CA357602918 | DSPP | c.147T>A (p.Asn49Lys) | |
| 4 | g.87612333T>C | CA440294028 | DSPP | c.147T>C (p.Asn49=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612333T>G | CA357602919 | DSPP | c.147T>G (p.Asn49Lys) | |
| 4 | g.87612333T= | CA1474384402 | DSPP | c.147T= (p.Asn49=) | |
| 4 | g.87612334G>A | CA357602920 | DSPP | c.148G>A (p.Ala50Thr) | dbSNP gnomAD v4 |
| 4 | g.87612334G>C | CA3000841 | DSPP | c.148G>C (p.Ala50Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612334G= | CA1474384403 | DSPP | c.148G= (p.Ala50=) | |
| 4 | g.87612334G>T | CA357602921 | DSPP | c.148G>T (p.Ala50Ser) | |
| 4 | g.87612335C>A | CA357602922 | DSPP | c.149C>A (p.Ala50Asp) | |
| 4 | g.87612335C= | CA1474384404 | DSPP | c.149C= (p.Ala50=) | |
| 4 | g.87612335C>G | CA357602923 | DSPP | c.149C>G (p.Ala50Gly) | |
| 4 | g.87612335C>T | CA357602924 | DSPP | c.149C>T (p.Ala50Val) | dbSNP gnomAD v4 |
| 4 | g.87612336C>A | CA440294033 | DSPP | c.150C>A (p.Ala50=) | |
| 4 | g.87612336C>G | CA440294034 | DSPP | c.150C>G (p.Ala50=) | |
| 4 | g.87612336C>T | CA440294035 | DSPP | c.150C>T (p.Ala50=) | |
| 4 | g.87612337A>C | CA357602925 | DSPP | c.151A>C (p.Ser51Arg) | |
| 4 | g.87612337A>G | CA357602926 | DSPP | c.151A>G (p.Ser51Gly) | |
| 4 | g.87612337A>T | CA357602927 | DSPP | c.151A>T (p.Ser51Cys) | gnomAD v4 |
| 4 | g.87612338G>A | CA357602930 | DSPP | c.152G>A (p.Ser51Asn) | |
| 4 | g.87612338G>C | CA357602929 | DSPP | c.152G>C (p.Ser51Thr) | |
| 4 | g.87612338G>T | CA357602928 | DSPP | c.152G>T (p.Ser51Ile) | |
| 4 | g.87612339T>A | CA357602931 | DSPP | c.153T>A (p.Ser51Arg) | gnomAD v4 |
| 4 | g.87612339T>C | CA3000842 | DSPP | c.153T>C (p.Ser51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612339T>G | CA357602932 | DSPP | c.153T>G (p.Ser51Arg) | |
| 4 | g.87612339T= | CA1474384405 | DSPP | c.153T= (p.Ser51=) | |
| 4 | g.87612340G>A | CA3000843 | DSPP | c.154G>A (p.Gly52Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612340G>C | CA357602933 | DSPP | c.154G>C (p.Gly52Arg) | |
| 4 | g.87612340G= | CA1474384406 | DSPP | c.154G= (p.Gly52=) | |
| 4 | g.87612340G>T | CA357602934 | DSPP | c.154G>T (p.Gly52Ter) | gnomAD v4 |
| 4 | g.87612341G>A | CA357602935 | DSPP | c.155G>A (p.Gly52Glu) | |
| 4 | g.87612341G>C | CA357602936 | DSPP | c.155G>C (p.Gly52Ala) | |
| 4 | g.87612341G= | CA1474384407 | DSPP | c.155G= (p.Gly52=) | |
| 4 | g.87612341G>T | CA357602937 | DSPP | c.155G>T (p.Gly52Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612342A= | CA1474384408 | DSPP | c.156A= (p.Gly52=) | |
| 4 | g.87612342A>C | CA440294042 | DSPP | c.156A>C (p.Gly52=) | |
| 4 | g.87612342A>G | CA440294043 | DSPP | c.156A>G (p.Gly52=) | |
| 4 | g.87612342A>T | CA3000844 | DSPP | c.156A>T (p.Gly52=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612343A>C | CA357602938 | DSPP | c.157A>C (p.Thr53Pro) | |
| 4 | g.87612343A>G | CA357602939 | DSPP | c.157A>G (p.Thr53Ala) | |
| 4 | g.87612343A>T | CA357602940 | DSPP | c.157A>T (p.Thr53Ser) | |
| 4 | g.87612344C>A | CA357602943 | DSPP | c.158C>A (p.Thr53Asn) | |
| 4 | g.87612344C>G | CA357602941 | DSPP | c.158C>G (p.Thr53Ser) | |
| 4 | g.87612344C>T | CA357602942 | DSPP | c.158C>T (p.Thr53Ile) | |
| 4 | g.87612345C>A | CA440294046 | DSPP | c.159C>A (p.Thr53=) | |
| 4 | g.87612345C>G | CA440294047 | DSPP | c.159C>G (p.Thr53=) | |
| 4 | g.87612345C>T | CA440294048 | DSPP | c.159C>T (p.Thr53=) | COSMIC |
| 4 | g.87612346A= | CA1474384409 | DSPP | c.160A= (p.Ile54=) | |
| 4 | g.87612346A>C | CA357602944 | DSPP | c.160A>C (p.Ile54Leu) | |
| 4 | g.87612346A>G | CA357602945 | DSPP | c.160A>G (p.Ile54Val) | dbSNP gnomAD v4 |
| 4 | g.87612346A>T | CA357602946 | DSPP | c.160A>T (p.Ile54Phe) | |
| 4 | g.87612347T>A | CA357602947 | DSPP | c.161T>A (p.Ile54Asn) | |
| 4 | g.87612347T>C | CA357602948 | DSPP | c.161T>C (p.Ile54Thr) | |
| 4 | g.87612347T>G | CA357602949 | DSPP | c.161T>G (p.Ile54Ser) | gnomAD v4 |
| 4 | g.87612348C>A | CA440294051 | DSPP | c.162C>A (p.Ile54=) | |
| 4 | g.87612348C>G | CA357602950 | DSPP | c.162C>G (p.Ile54Met) | |
| 4 | g.87612348C>T | CA440294052 | DSPP | c.162C>T (p.Ile54=) | |
| 4 | g.87612349A>C | CA357602951 | DSPP | c.163A>C (p.Lys55Gln) | |
| 4 | g.87612349A>G | CA357602952 | DSPP | c.163A>G (p.Lys55Glu) | |
| 4 | g.87612349A>T | CA357602953 | DSPP | c.163A>T (p.Lys55Ter) | |
| 4 | g.87612350A>C | CA357602954 | DSPP | c.164A>C (p.Lys55Thr) | |
| 4 | g.87612350A>G | CA357602955 | DSPP | c.164A>G (p.Lys55Arg) | |
| 4 | g.87612350A>T | CA357602956 | DSPP | c.164A>T (p.Lys55Ile) | |
| 4 | g.87612351A>C | CA357602957 | DSPP | c.165A>C (p.Lys55Asn) | |
| 4 | g.87612351A>G | CA440294056 | DSPP | c.165A>G (p.Lys55=) | gnomAD v4 |
| 4 | g.87612351A>T | CA357602958 | DSPP | c.165A>T (p.Lys55Asn) | |
| 4 | g.87612352G>A | CA100849402 | DSPP | c.166G>A (p.Glu56Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612352G>C | CA357602959 | DSPP | c.166G>C (p.Glu56Gln) | |
| 4 | g.87612352G= | CA1474384410 | DSPP | c.166G= (p.Glu56=) | |
| 4 | g.87612352G>T | CA357602960 | DSPP | c.166G>T (p.Glu56Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612353A>C | CA357602961 | DSPP | c.167A>C (p.Glu56Ala) | |
| 4 | g.87612353A>G | CA357602962 | DSPP | c.167A>G (p.Glu56Gly) | |
| 4 | g.87612353A>T | CA357602963 | DSPP | c.167A>T (p.Glu56Val) | |
| 4 | g.87612354A>C | CA357602964 | DSPP | c.168A>C (p.Glu56Asp) | |
| 4 | g.87612354A>G | CA440294057 | DSPP | c.168A>G (p.Glu56=) | |
| 4 | g.87612354A>T | CA357602965 | DSPP | c.168A>T (p.Glu56Asp) | |
| 4 | g.87612355A>C | CA357602966 | DSPP | c.169A>C (p.Ser57Arg) | COSMIC |
| 4 | g.87612355A>G | CA357602967 | DSPP | c.169A>G (p.Ser57Gly) | |
| 4 | g.87612355A>T | CA357602968 | DSPP | c.169A>T (p.Ser57Cys) | |
| 4 | g.87612356G>A | CA357602969 | DSPP | c.170G>A (p.Ser57Asn) | dbSNP gnomAD v4 |
| 4 | g.87612356G>C | CA357602970 | DSPP | c.170G>C (p.Ser57Thr) | |
| 4 | g.87612356G= | CA1474384411 | DSPP | c.170G= (p.Ser57=) | |
| 4 | g.87612356G>T | CA357602971 | DSPP | c.170G>T (p.Ser57Ile) | |
| 4 | g.87612357T>A | CA357602973 | DSPP | c.171T>A (p.Ser57Arg) | |
| 4 | g.87612357T>C | CA3000845 | DSPP | c.171T>C (p.Ser57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612357T>G | CA357602972 | DSPP | c.171T>G (p.Ser57Arg) | |
| 4 | g.87612357T= | CA1474384412 | DSPP | c.171T= (p.Ser57=) | |
| 4 | g.87612358G>A | CA357602974 | DSPP | c.172G>A (p.Gly58Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612358G>C | CA357602975 | DSPP | c.172G>C (p.Gly58Arg) | |
| 4 | g.87612358G= | CA1474384413 | DSPP | c.172G= (p.Gly58=) | |
| 4 | g.87612358G>T | CA357602976 | DSPP | c.172G>T (p.Gly58Cys) | |
| 4 | g.87612359G>A | CA357602977 | DSPP | c.173G>A (p.Gly58Asp) | |
| 4 | g.87612359G>C | CA357602978 | DSPP | c.173G>C (p.Gly58Ala) | |
| 4 | g.87612359G>T | CA357602979 | DSPP | c.173G>T (p.Gly58Val) | gnomAD v4 |
| 4 | g.87612360T>A | CA440294062 | DSPP | c.174T>A (p.Gly58=) | |
| 4 | g.87612360T>C | CA440294061 | DSPP | c.174T>C (p.Gly58=) | gnomAD v4 |
| 4 | g.87612360T>G | CA440294060 | DSPP | c.174T>G (p.Gly58=) | |
| 4 | g.87612361G>A | CA357602980 | DSPP | c.175G>A (p.Val59Ile) | |
| 4 | g.87612361G>C | CA357602981 | DSPP | c.175G>C (p.Val59Leu) | |
| 4 | g.87612361G>T | CA357602982 | DSPP | c.175G>T (p.Val59Phe) | |
| 4 | g.87612362T>A | CA357602983 | DSPP | c.176T>A (p.Val59Asp) | |
| 4 | g.87612362T>C | CA357602984 | DSPP | c.176T>C (p.Val59Ala) | gnomAD v4 |
| 4 | g.87612362T>G | CA357602985 | DSPP | c.176T>G (p.Val59Gly) | |
| 4 | g.87612363C>A | CA440294065 | DSPP | c.177C>A (p.Val59=) | |
| 4 | g.87612363C>G | CA440294066 | DSPP | c.177C>G (p.Val59=) | |
| 4 | g.87612363C>T | CA440294067 | DSPP | c.177C>T (p.Val59=) | |
| 4 | g.87612364C>A | CA3000846 | DSPP | c.178C>A (p.Leu60Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612364C= | CA1474384414 | DSPP | c.178C= (p.Leu60=) | |
| 4 | g.87612364C>G | CA357602986 | DSPP | c.178C>G (p.Leu60Val) | |
| 4 | g.87612364C>T | CA440294068 | DSPP | c.178C>T (p.Leu60=) | |
| 4 | g.87612365T>A | CA357602988 | DSPP | c.179T>A (p.Leu60Gln) | |
| 4 | g.87612365T>C | CA357602989 | DSPP | c.179T>C (p.Leu60Pro) | gnomAD v4 |
| 4 | g.87612365T>G | CA357602987 | DSPP | c.179T>G (p.Leu60Arg) | |
| 4 | g.87612366G>A | CA440294070 | DSPP | c.180G>A (p.Leu60=) | |
| 4 | g.87612366G>C | CA440294073 | DSPP | c.180G>C (p.Leu60=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612366G= | CA1474384415 | DSPP | c.180G= (p.Leu60=) | |
| 4 | g.87612366G>T | CA3000847 | DSPP | c.180G>T (p.Leu60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612367G>A | CA357602990 | DSPP | c.181G>A (p.Val61Met) | |
| 4 | g.87612367G>C | CA357602991 | DSPP | c.181G>C (p.Val61Leu) | |
| 4 | g.87612367G>T | CA357602992 | DSPP | c.181G>T (p.Val61Leu) | gnomAD v4 |
| 4 | g.87612368T>A | CA357602993 | DSPP | c.182T>A (p.Val61Glu) | |
| 4 | g.87612368T>C | CA357602994 | DSPP | c.182T>C (p.Val61Ala) | |
| 4 | g.87612368T>G | CA3000848 | DSPP | c.182T>G (p.Val61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612368T= | CA1474384416 | DSPP | c.182T= (p.Val61=) | |
| 4 | g.87612369G>A | CA440294079 | DSPP | c.183G>A (p.Val61=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612369G>C | CA440294080 | DSPP | c.183G>C (p.Val61=) | |
| 4 | g.87612369G= | CA1474384417 | DSPP | c.183G= (p.Val61=) | |
| 4 | g.87612369G>T | CA440294081 | DSPP | c.183G>T (p.Val61=) | |
| 4 | g.87612370C>A | CA357602995 | DSPP | c.184C>A (p.His62Asn) | |
| 4 | g.87612370C>G | CA357602996 | DSPP | c.184C>G (p.His62Asp) | |
| 4 | g.87612370C>T | CA357602997 | DSPP | c.184C>T (p.His62Tyr) | gnomAD v4 |
| 4 | g.87612371A= | CA1474384418 | DSPP | c.185A= (p.His62=) | |
| 4 | g.87612371A>C | CA357602998 | DSPP | c.185A>C (p.His62Pro) | |
| 4 | g.87612371A>G | CA357602999 | DSPP | c.185A>G (p.His62Arg) | dbSNP |
| 4 | g.87612371A>T | CA357603000 | DSPP | c.185A>T (p.His62Leu) | dbSNP |
| 4 | g.87612372T>A | CA357603002 | DSPP | c.186T>A (p.His62Gln) | dbSNP |
| 4 | g.87612372T>C | CA3000849 | DSPP | c.186T>C (p.His62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612372T>G | CA357603001 | DSPP | c.186T>G (p.His62Gln) | |
| 4 | g.87612372T= | CA1474384419 | DSPP | c.186T= (p.His62=) | |
| 4 | g.87612375_87612380del | CA440294086 | DSPP | c.189_194del (p.Glu63_Gly64del) | gnomAD v4 |
| 4 | g.87612373G>A | CA357603003 | DSPP | c.187G>A (p.Glu63Lys) | gnomAD v4 |
| 4 | g.87612373G>C | CA357603004 | DSPP | c.187G>C (p.Glu63Gln) | gnomAD v4 |
| 4 | g.87612373G>T | CA357603005 | DSPP | c.187G>T (p.Glu63Ter) |