Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94404748_94404839del | CA2776991007 | COL1A2 | c.378+2_379del c.372+2_373del | |
7 | g.94404783dup | CA576321556 | COL1A2 | c.378+37dup (n.378+37dup) c.372+37dup (n.372+37dup) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404783del | CA2683767107 | COL1A2 | c.378+37del (n.378+37del) c.372+37del (n.372+37del) | gnomAD v4 |
7 | g.94404778T>A | CA4346646 | COL1A2 | c.378+32T>A (n.378+32T>A) c.372+32T>A (n.372+32T>A) | dbSNP ExAC |
7 | g.94404778T= | CA1726792233 | COL1A2 | c.378+32T= (n.378+32T=) c.372+32T= (n.372+32T=) | |
7 | g.94404780T>A | CA4346647 | COL1A2 | c.378+34T>A (n.378+34T>A) c.372+34T>A (n.372+34T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404780T= | CA1726792234 | COL1A2 | c.378+34T= (n.378+34T=) c.372+34T= (n.372+34T=) | |
7 | g.94404782T>C | CA2578941494 | COL1A2 | c.378+36T>C (n.378+36T>C) c.372+36T>C (n.372+36T>C) | |
7 | g.94404783T>C | CA2578941495 | COL1A2 | c.378+37T>C (n.378+37T>C) c.372+37T>C (n.372+37T>C) | |
7 | g.94404784C= | CA1726792235 | COL1A2 | c.378+38C= (n.378+38C=) c.372+38C= (n.372+38C=) | |
7 | g.94404784C>T | CA4346648 | COL1A2 | c.378+38C>T (n.378+38C>T) c.372+38C>T (n.372+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404786A= | CA1726792236 | COL1A2 | c.378+40A= (n.378+40A=) c.372+40A= (n.372+40A=) | |
7 | g.94404786A>G | CA1104605220 | COL1A2 | c.378+40A>G (n.378+40A>G) c.372+40A>G (n.372+40A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404787G>A | CA2544245272 | COL1A2 | c.378+41G>A (n.378+41G>A) c.372+41G>A (n.372+41G>A) | |
7 | g.94404788G>A | CA4346649 | COL1A2 | c.378+42G>A (n.378+42G>A) c.372+42G>A (n.372+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404788G= | CA1726792237 | COL1A2 | c.378+42G= (n.378+42G=) c.372+42G= (n.372+42G=) | |
7 | g.94404788G>T | CA2578941496 | COL1A2 | c.378+42G>T (n.378+42G>T) c.372+42G>T (n.372+42G>T) | gnomAD v4 |
7 | g.94404790A= | CA1726792238 | COL1A2 | c.378+44A= (n.378+44A=) c.372+44A= (n.372+44A=) | |
7 | g.94404790A>C | CA576321557 | COL1A2 | c.378+44A>C (n.378+44A>C) c.372+44A>C (n.372+44A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404791G>A | CA4346650 | COL1A2 | c.378+45G>A (n.378+45G>A) c.372+45G>A (n.372+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404791G= | CA1726792239 | COL1A2 | c.378+45G= (n.378+45G=) c.372+45G= (n.372+45G=) | |
7 | g.94404791_94404802del | CA2776991011 | COL1A2 | c.378+45_379-37del (n.378+45_379-37del) c.372+45_373-37del (n.372+45_373-37del) | |
7 | g.94404792T>C | CA162914374 | COL1A2 | c.379-47T>C (n.379-47T>C) c.373-47T>C (n.373-47T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404792T>G | CA1104605221 | COL1A2 | c.379-47T>G (n.379-47T>G) c.373-47T>G (n.373-47T>G) | gnomAD v3 gnomAD v4 |
7 | g.94404792T= | CA1726792240 | COL1A2 | c.379-47T= (n.379-47T=) c.373-47T= (n.373-47T=) | |
7 | g.94404794T>C | CA2683767108 | COL1A2 | c.379-45T>C (n.379-45T>C) c.373-45T>C (n.373-45T>C) | gnomAD v4 |
7 | g.94404795A= | CA1726792241 | COL1A2 | c.379-44A= (n.379-44A=) c.373-44A= (n.373-44A=) | |
7 | g.94404795A>C | CA576321558 | COL1A2 | c.379-44A>C (n.379-44A>C) c.373-44A>C (n.373-44A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404796_94404797insTAACA | CA2556302400 | COL1A2 | c.379-43_379-42insTAACA (n.379-43_379-42insTAACA) c.373-43_373-42insTAACA (n.373-43_373-42insTAACA) | |
7 | g.94404797G>C | CA651752739 | COL1A2 | c.379-42G>C (n.379-42G>C) c.373-42G>C (n.373-42G>C) | COSMIC |
7 | g.94404799A>G | CA2536832629 | COL1A2 | c.379-40A>G (n.379-40A>G) c.373-40A>G (n.373-40A>G) | |
7 | g.94404800T>C | CA4346651 | COL1A2 | c.379-39T>C (n.379-39T>C) c.373-39T>C (n.373-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404800T= | CA1726792242 | COL1A2 | c.379-39T= (n.379-39T=) c.373-39T= (n.373-39T=) | |
7 | g.94404801A>G | CA2683767109 | COL1A2 | c.379-38A>G (n.379-38A>G) c.373-38A>G (n.373-38A>G) | gnomAD v4 |
7 | g.94404802dup | CA2548957693 | COL1A2 | c.379-37dup (n.379-37dup) c.373-37dup (n.373-37dup) | |
7 | g.94404805C>A | CA576321559 | COL1A2 | c.379-34C>A (n.379-34C>A) c.373-34C>A (n.373-34C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404805C= | CA1726792243 | COL1A2 | c.379-34C= (n.379-34C=) c.373-34C= (n.373-34C=) | |
7 | g.94404806_94404807insCGGACGAC | CA2776991013 | COL1A2 | c.379-33_379-32insCGGACGAC (n.379-33_379-32insCGGACGAC) c.373-33_373-32insCGGACGAC (n.373-33_373-32insCGGACGAC) | |
7 | g.94404806_94404812del | CA2568936694 | COL1A2 | c.379-33_379-27del (n.379-33_379-27del) c.373-33_373-27del (n.373-33_373-27del) | |
7 | g.94404807T>C | CA2776991016 | COL1A2 | c.379-32T>C (n.379-32T>C) c.373-32T>C (n.373-32T>C) | |
7 | g.94404807T>G | CA2683767110 | COL1A2 | c.379-32T>G (n.379-32T>G) c.373-32T>G (n.373-32T>G) | gnomAD v4 |
7 | g.94404808T>C | CA2683767111 | COL1A2 | c.379-31T>C (n.379-31T>C) c.373-31T>C (n.373-31T>C) | gnomAD v4 |
7 | g.94404809A>G | CA2776991019 | COL1A2 | c.379-30A>G (n.379-30A>G) c.373-30A>G (n.373-30A>G) | |
7 | g.94404810G>A | CA2683767112 | COL1A2 | c.379-29G>A (n.379-29G>A) c.373-29G>A (n.373-29G>A) | gnomAD v4 |
7 | g.94404811T>C | CA4346652 | COL1A2 | c.379-28T>C (n.379-28T>C) c.373-28T>C (n.373-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404811T= | CA1726792244 | COL1A2 | c.379-28T= (n.379-28T=) c.373-28T= (n.373-28T=) | |
7 | g.94404812G>C | CA2715125182 | COL1A2 | c.379-27G>C (n.379-27G>C) c.373-27G>C (n.373-27G>C) | dbSNP |
7 | g.94404814A>G | CA2776991021 | COL1A2 | c.379-25A>G (n.379-25A>G) c.373-25A>G (n.373-25A>G) | |
7 | g.94404815A= | CA1726792245 | COL1A2 | c.379-24A= (n.379-24A=) c.373-24A= (n.373-24A=) | |
7 | g.94404815A>G | CA4346653 | COL1A2 | c.379-24A>G (n.379-24A>G) c.373-24A>G (n.373-24A>G) | dbSNP ExAC gnomAD v2 |
7 | g.94404818_94404820del | CA2683767113 | COL1A2 | c.379-21_379-19del (n.379-21_379-19del) c.373-21_373-19del (n.373-21_373-19del) | gnomAD v4 |
7 | g.94404816del | CA2776991022 | COL1A2 | c.379-23del (n.379-23del) c.373-23del (n.373-23del) | |
7 | g.94404816T>G | CA576321560 | COL1A2 | c.379-23T>G (n.379-23T>G) c.373-23T>G (n.373-23T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404816T= | CA1726792246 | COL1A2 | c.379-23T= (n.379-23T=) c.373-23T= (n.373-23T=) | |
7 | g.94404817_94404818insGGGT | CA651752744 | COL1A2 | c.379-22_379-21insGGGT (n.379-22_379-21insGGGT) c.373-22_373-21insGGGT (n.373-22_373-21insGGGT) | COSMIC COSMIC |
7 | g.94404818A>T | CA2683767114 | COL1A2 | c.379-21A>T (n.379-21A>T) c.373-21A>T (n.373-21A>T) | gnomAD v4 |
7 | g.94404819T>G | CA2776991025 | COL1A2 | c.379-20T>G (n.379-20T>G) c.373-20T>G (n.373-20T>G) | |
7 | g.94404821G>A | CA2776991027 | COL1A2 | c.379-18G>A (n.379-18G>A) c.373-18G>A (n.373-18G>A) | |
7 | g.94404822G>A | CA2683767115 | COL1A2 | c.379-17G>A (n.379-17G>A) c.373-17G>A (n.373-17G>A) | gnomAD v4 |
7 | g.94404822G>T | CA2683767116 | COL1A2 | c.379-17G>T (n.379-17G>T) c.373-17G>T (n.373-17G>T) | gnomAD v4 |
7 | g.94404824C>T | CA2683767117 | COL1A2 | c.379-15C>T (n.379-15C>T) c.373-15C>T (n.373-15C>T) | gnomAD v4 |
7 | g.94404824_94404829del | CA2776991029 | COL1A2 | c.379-15_379-10del (n.379-15_379-10del) c.373-15_373-10del (n.373-15_373-10del) | |
7 | g.94404826C>A | CA843998712 | COL1A2 | c.379-13C>A (n.379-13C>A) c.373-13C>A (n.373-13C>A) | dbSNP gnomAD v4 |
7 | g.94404826C= | CA1726792247 | COL1A2 | c.379-13C= (n.379-13C=) c.373-13C= (n.373-13C=) | |
7 | g.94404826C>T | CA843998714 | COL1A2 | c.379-13C>T (n.379-13C>T) c.373-13C>T (n.373-13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404827C>G | CA2683767118 | COL1A2 | c.379-12C>G (n.379-12C>G) c.373-12C>G (n.373-12C>G) | gnomAD v4 |
7 | g.94404827C>T | CA2578941497 | COL1A2 | c.379-12C>T (n.379-12C>T) c.373-12C>T (n.373-12C>T) | gnomAD v4 |
7 | g.94404831T>C | CA576321561 | COL1A2 | c.379-8T>C (n.379-8T>C) c.373-8T>C (n.373-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404831T>G | CA2776991030 | COL1A2 | c.379-8T>G (n.379-8T>G) c.373-8T>G (n.373-8T>G) | |
7 | g.94404831T= | CA1726792248 | COL1A2 | c.379-8T= (n.379-8T=) c.373-8T= (n.373-8T=) | |
7 | g.94404832T>G | CA2683767119 | COL1A2 | c.379-7T>G (n.379-7T>G) c.373-7T>G (n.373-7T>G) | gnomAD v4 |
7 | g.94404833T>C | CA2683767120 | COL1A2 | c.379-6T>C (n.379-6T>C) c.373-6T>C (n.373-6T>C) | gnomAD v4 |
7 | g.94404834C= | CA1726792249 | COL1A2 | c.379-5C= (n.379-5C=) c.373-5C= (n.373-5C=) | |
7 | g.94404834C>G | CA4346654 | COL1A2 | c.379-5C>G (n.379-5C>G) c.373-5C>G (n.373-5C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404834C>T | CA2683767121 | COL1A2 | c.379-5C>T (n.379-5C>T) c.373-5C>T (n.373-5C>T) | gnomAD v4 |
7 | g.94404834_94404838del | CA2776991031 | COL1A2 | c.379-5_379-1del (n.379-5_379-1del) c.373-5_373-1del (n.373-5_373-1del) | |
7 | g.94404836T>A | CA2578941498 | COL1A2 | c.379-3T>A (n.379-3T>A) c.373-3T>A (n.373-3T>A) | gnomAD v4 |
7 | g.94404836T>C | CA576321562 | COL1A2 | c.379-3T>C (n.379-3T>C) c.373-3T>C (n.373-3T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404836T= | CA1726792250 | COL1A2 | c.379-3T= (n.379-3T=) c.373-3T= (n.373-3T=) | |
7 | g.94404837A= | CA1726792251 | COL1A2 | c.379-2A= (n.379-2A=) c.373-2A= (n.373-2A=) | |
7 | g.94404837A>C | CA368219642 | COL1A2 | c.379-2A>C (n.379-2A>C) c.373-2A>C (n.373-2A>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.94404837A>G | CA368219641 | COL1A2 | c.379-2A>G (n.379-2A>G) c.373-2A>G (n.373-2A>G) | gnomAD v4 |
7 | g.94404837A>T | CA368219640 | COL1A2 | c.379-2A>T (n.379-2A>T) c.373-2A>T (n.373-2A>T) | |
7 | g.94404838G>A | CA368219643 | COL1A2 | c.379-1G>A (n.379-1G>A) c.373-1G>A (n.373-1G>A) | |
7 | g.94404838G>C | CA368219644 | COL1A2 | c.379-1G>C (n.379-1G>C) c.373-1G>C (n.373-1G>C) | |
7 | g.94404838G>T | CA368219645 | COL1A2 | c.379-1G>T (n.379-1G>T) c.373-1G>T (n.373-1G>T) | |
7 | g.94404839G>A | CA368219646 | COL1A2 | c.379G>A (p.Gly127Ser) c.373G>A (p.Gly125Ser) | |
7 | g.94404839G>C | CA368219647 | COL1A2 | c.379G>C (p.Gly127Arg) c.373G>C (p.Gly125Arg) | |
7 | g.94404839G>T | CA368219648 | COL1A2 | c.379G>T (p.Gly127Cys) c.373G>T (p.Gly125Cys) | |
7 | g.94404840G>A | CA368219649 | COL1A2 | c.380G>A (p.Gly127Asp) c.374G>A (p.Gly125Asp) | |
7 | g.94404840G>C | CA368219651 | COL1A2 | c.380G>C (p.Gly127Ala) c.374G>C (p.Gly125Ala) | |
7 | g.94404840G>T | CA368219650 | COL1A2 | c.380G>T (p.Gly127Val) c.374G>T (p.Gly125Val) | |
7 | g.94404841T>A | CA456487199 | COL1A2 | c.381T>A (p.Gly127=) c.375T>A (p.Gly125=) | |
7 | g.94404841T>C | CA456487200 | COL1A2 | c.381T>C (p.Gly127=) c.375T>C (p.Gly125=) | |
7 | g.94404841T>G | CA456487201 | COL1A2 | c.381T>G (p.Gly127=) c.375T>G (p.Gly125=) | gnomAD v4 |
7 | g.94404842C>A | CA4346656 | COL1A2 | c.382C>A (p.Pro128Thr) c.376C>A (p.Pro126Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404842C= | CA1726792252 | COL1A2 | c.382C= (p.Pro128=) c.376C= (p.Pro126=) | |
7 | g.94404842C>G | CA368219652 | COL1A2 | c.382C>G (p.Pro128Ala) c.376C>G (p.Pro126Ala) | gnomAD v4 |
7 | g.94404842C>T | CA4346655 | COL1A2 | c.382C>T (p.Pro128Ser) c.376C>T (p.Pro126Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404843C>A | CA368219653 | COL1A2 | c.383C>A (p.Pro128His) c.377C>A (p.Pro126His) | |
7 | g.94404843C>G | CA368219654 | COL1A2 | c.383C>G (p.Pro128Arg) c.377C>G (p.Pro126Arg) | |
7 | g.94404843C>T | CA368219655 | COL1A2 | c.383C>T (p.Pro128Leu) c.377C>T (p.Pro126Leu) | |
7 | g.94404844T>A | CA4346657 | COL1A2 | c.384T>A (p.Pro128=) c.378T>A (p.Pro126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404844T>C | CA456487203 | COL1A2 | c.384T>C (p.Pro128=) c.378T>C (p.Pro126=) | |
7 | g.94404844T>G | CA456487204 | COL1A2 | c.384T>G (p.Pro128=) c.378T>G (p.Pro126=) | |
7 | g.94404844T= | CA1726792253 | COL1A2 | c.384T= (p.Pro128=) c.378T= (p.Pro126=) | |
7 | g.94404845G>A | CA368219656 | COL1A2 | c.385G>A (p.Ala129Thr) c.379G>A (p.Ala127Thr) | |
7 | g.94404845G>C | CA368219657 | COL1A2 | c.385G>C (p.Ala129Pro) c.379G>C (p.Ala127Pro) | |
7 | g.94404845G>T | CA368219658 | COL1A2 | c.385G>T (p.Ala129Ser) c.379G>T (p.Ala127Ser) | |
7 | g.94404846C>A | CA368219661 | COL1A2 | c.386C>A (p.Ala129Glu) c.380C>A (p.Ala127Glu) | |
7 | g.94404846C>G | CA368219660 | COL1A2 | c.386C>G (p.Ala129Gly) c.380C>G (p.Ala127Gly) | |
7 | g.94404846C>T | CA368219659 | COL1A2 | c.386C>T (p.Ala129Val) c.380C>T (p.Ala127Val) | |
7 | g.94404847A>C | CA456487209 | COL1A2 | c.387A>C (p.Ala129=) c.381A>C (p.Ala127=) | |
7 | g.94404847A>G | CA456487208 | COL1A2 | c.387A>G (p.Ala129=) c.381A>G (p.Ala127=) | gnomAD v4 |
7 | g.94404847A>T | CA456487207 | COL1A2 | c.387A>T (p.Ala129=) c.381A>T (p.Ala127=) | |
7 | g.94404848G>A | CA368219662 | COL1A2 | c.388G>A (p.Gly130Ser) c.382G>A (p.Gly128Ser) | |
7 | g.94404848G>C | CA368219664 | COL1A2 | c.388G>C (p.Gly130Arg) c.382G>C (p.Gly128Arg) | |
7 | g.94404848G>T | CA368219663 | COL1A2 | c.388G>T (p.Gly130Cys) c.382G>T (p.Gly128Cys) | |
7 | g.94404849G>A | CA162914426 | COL1A2 | c.389G>A (p.Gly130Asp) c.383G>A (p.Gly128Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.94404849G>C | CA368219665 | COL1A2 | c.389G>C (p.Gly130Ala) c.383G>C (p.Gly128Ala) | |
7 | g.94404849G= | CA1726792254 | COL1A2 | c.389G= (p.Gly130=) c.383G= (p.Gly128=) | |
7 | g.94404849G>T | CA368219666 | COL1A2 | c.389G>T (p.Gly130Val) c.383G>T (p.Gly128Val) | ClinVar dbSNP gnomAD v4 |
7 | g.94404850T>A | CA456487303 | COL1A2 | c.390T>A (p.Gly130=) c.384T>A (p.Gly128=) | gnomAD v4 |
7 | g.94404850T>C | CA456487304 | COL1A2 | c.390T>C (p.Gly130=) c.384T>C (p.Gly128=) | |
7 | g.94404850T>G | CA456487305 | COL1A2 | c.390T>G (p.Gly130=) c.384T>G (p.Gly128=) | |
7 | g.94404851G>A | CA368219667 | COL1A2 | c.391G>A (p.Ala131Thr) c.385G>A (p.Ala129Thr) | gnomAD v4 |
7 | g.94404851G>C | CA368219668 | COL1A2 | c.391G>C (p.Ala131Pro) c.385G>C (p.Ala129Pro) | |
7 | g.94404851G>T | CA368219669 | COL1A2 | c.391G>T (p.Ala131Ser) c.385G>T (p.Ala129Ser) | gnomAD v4 |
7 | g.94404852C>A | CA368219670 | COL1A2 | c.392C>A (p.Ala131Asp) c.386C>A (p.Ala129Asp) | |
7 | g.94404852C>G | CA368219671 | COL1A2 | c.392C>G (p.Ala131Gly) c.386C>G (p.Ala129Gly) | |
7 | g.94404852C>T | CA368219672 | COL1A2 | c.392C>T (p.Ala131Val) c.386C>T (p.Ala129Val) | ClinVar gnomAD v4 |
7 | g.94404853T>A | CA456487309 | COL1A2 | c.393T>A (p.Ala131=) c.387T>A (p.Ala129=) | |
7 | g.94404853T>C | CA456487310 | COL1A2 | c.393T>C (p.Ala131=) c.387T>C (p.Ala129=) | |
7 | g.94404853T>G | CA456487311 | COL1A2 | c.393T>G (p.Ala131=) c.387T>G (p.Ala129=) | |
7 | g.94404854C>A | CA368219673 | COL1A2 | c.394C>A (p.Arg132Ser) c.388C>A (p.Arg130Ser) | gnomAD v4 |
7 | g.94404854C= | CA1726792255 | COL1A2 | c.394C= (p.Arg132=) c.388C= (p.Arg130=) | |
7 | g.94404854C>G | CA4346658 | COL1A2 | c.394C>G (p.Arg132Gly) c.388C>G (p.Arg130Gly) | dbSNP ExAC gnomAD v2 |
7 | g.94404854C>T | CA4346659 | COL1A2 | c.394C>T (p.Arg132Cys) c.388C>T (p.Arg130Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404855G>A | CA4346660 | COL1A2 | c.395G>A (p.Arg132His) c.389G>A (p.Arg130His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.94404855G>C | CA368219675 | COL1A2 | c.395G>C (p.Arg132Pro) c.389G>C (p.Arg130Pro) | |
7 | g.94404855G= | CA1726792256 | COL1A2 | c.395G= (p.Arg132=) c.389G= (p.Arg130=) | |
7 | g.94404855G>T | CA368219674 | COL1A2 | c.395G>T (p.Arg132Leu) c.389G>T (p.Arg130Leu) | |
7 | g.94404856T>A | CA456487312 | COL1A2 | c.396T>A (p.Arg132=) c.390T>A (p.Arg130=) | gnomAD v4 |
7 | g.94404856T>C | CA456487313 | COL1A2 | c.396T>C (p.Arg132=) c.390T>C (p.Arg130=) | |
7 | g.94404856T>G | CA456487315 | COL1A2 | c.396T>G (p.Arg132=) c.390T>G (p.Arg130=) | |
7 | g.94404857G>A | CA162914443 | COL1A2 | c.397G>A (p.Gly133Ser) c.391G>A (p.Gly131Ser) | dbSNP COSMIC |
7 | g.94404857G>C | CA368219676 | COL1A2 | c.397G>C (p.Gly133Arg) c.391G>C (p.Gly131Arg) | |
7 | g.94404857G= | CA1726792257 | COL1A2 | c.397G= (p.Gly133=) c.391G= (p.Gly131=) | |
7 | g.94404857G>T | CA368219677 | COL1A2 | c.397G>T (p.Gly133Cys) c.391G>T (p.Gly131Cys) | |
7 | g.94404858G>A | CA368219678 | COL1A2 | c.398G>A (p.Gly133Asp) c.392G>A (p.Gly131Asp) | |
7 | g.94404858G>C | CA368219679 | COL1A2 | c.398G>C (p.Gly133Ala) c.392G>C (p.Gly131Ala) | |
7 | g.94404858G= | CA1726792258 | COL1A2 | c.398G= (p.Gly133=) c.392G= (p.Gly131=) | |
7 | g.94404858G>T | CA368219680 | COL1A2 | c.398G>T (p.Gly133Val) c.392G>T (p.Gly131Val) | ClinVar dbSNP COSMIC |
7 | g.94404859T>A | CA456487317 | COL1A2 | c.399T>A (p.Gly133=) c.393T>A (p.Gly131=) | |
7 | g.94404859T>C | CA456487318 | COL1A2 | c.399T>C (p.Gly133=) c.393T>C (p.Gly131=) | |
7 | g.94404859T>G | CA456487319 | COL1A2 | c.399T>G (p.Gly133=) c.393T>G (p.Gly131=) | |
7 | g.94404859_94404860delinsTC | CA1726792259 | COL1A2 | c.399_400delinsTC (p.Gly133=) c.393_394delinsTC (p.Gly131=) | |
7 | g.94404862_94404873del | CA2740097418 | COL1A2 | c.402_413del (p.Ala135_Pro138del) c.396_407del (p.Ala133_Pro136del) | ClinVar |
7 | g.94404860C>A | CA368219681 | COL1A2 | c.400C>A (p.Pro134Thr) c.394C>A (p.Pro132Thr) | gnomAD v4 |
7 | g.94404860C= | CA1726792260 | COL1A2 | c.400C= (p.Pro134=) c.394C= (p.Pro132=) | |
7 | g.94404860C>G | CA368219682 | COL1A2 | c.400C>G (p.Pro134Ala) c.394C>G (p.Pro132Ala) | |
7 | g.94404860C>T | CA368219683 | COL1A2 | c.400C>T (p.Pro134Ser) c.394C>T (p.Pro132Ser) | dbSNP COSMIC |
7 | g.94404861del | CA16042604 | COL1A2 | c.401del (p.Pro134GlnfsTer?) c.395del (p.Pro132GlnfsTer?) | ClinVar dbSNP |
7 | g.94404861C>A | CA368219684 | COL1A2 | c.401C>A (p.Pro134Gln) c.395C>A (p.Pro132Gln) | |
7 | g.94404861C= | CA1726792261 | COL1A2 | c.401C= (p.Pro134=) c.395C= (p.Pro132=) | |
7 | g.94404861C>G | CA368219685 | COL1A2 | c.401C>G (p.Pro134Arg) c.395C>G (p.Pro132Arg) | |
7 | g.94404861C>T | CA4346661 | COL1A2 | c.401C>T (p.Pro134Leu) c.395C>T (p.Pro132Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.94404862A= | CA1726792262 | COL1A2 | c.402A= (p.Pro134=) c.396A= (p.Pro132=) | |
7 | g.94404862A>C | CA4346662 | COL1A2 | c.402A>C (p.Pro134=) c.396A>C (p.Pro132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94404862A>G | CA456487322 | COL1A2 | c.402A>G (p.Pro134=) c.396A>G (p.Pro132=) | |
7 | g.94404862A>T | CA456487323 | COL1A2 | c.402A>T (p.Pro134=) c.396A>T (p.Pro132=) | |
7 | g.94404863G>A | CA368219687 | COL1A2 | c.403G>A (p.Ala135Thr) c.397G>A (p.Ala133Thr) | |
7 | g.94404863G>C | CA368219686 | COL1A2 | c.403G>C (p.Ala135Pro) c.397G>C (p.Ala133Pro) | gnomAD v4 |
7 | g.94404863G>T | CA368219688 | COL1A2 | c.403G>T (p.Ala135Ser) c.397G>T (p.Ala133Ser) | |
7 | g.94404864C>A | CA368219689 | COL1A2 | c.404C>A (p.Ala135Asp) c.398C>A (p.Ala133Asp) | |
7 | g.94404864C>G | CA368219690 | COL1A2 | c.404C>G (p.Ala135Gly) c.398C>G (p.Ala133Gly) | |
7 | g.94404864C>T | CA368219691 | COL1A2 | c.404C>T (p.Ala135Val) c.398C>T (p.Ala133Val) | gnomAD v4 COSMIC |
7 | g.94404865T>A | CA456487327 | COL1A2 | c.405T>A (p.Ala135=) c.399T>A (p.Ala133=) | |
7 | g.94404865T>C | CA456487328 | COL1A2 | c.405T>C (p.Ala135=) c.399T>C (p.Ala133=) | |
7 | g.94404865T>G | CA456487329 | COL1A2 | c.405T>G (p.Ala135=) c.399T>G (p.Ala133=) | |
7 | g.94404866G>A | CA368219692 | COL1A2 | c.406G>A (p.Gly136Ser) c.400G>A (p.Gly134Ser) | |
7 | g.94404866G>C | CA368219693 | COL1A2 | c.406G>C (p.Gly136Arg) c.400G>C (p.Gly134Arg) | |
7 | g.94404866G>T | CA368219694 | COL1A2 | c.406G>T (p.Gly136Cys) c.400G>T (p.Gly134Cys) | |
7 | g.94404867G>A | CA16605302 | COL1A2 | c.407G>A (p.Gly136Asp) c.401G>A (p.Gly134Asp) | ClinVar dbSNP COSMIC |
7 | g.94404867G>C | CA368219695 | COL1A2 | c.407G>C (p.Gly136Ala) c.401G>C (p.Gly134Ala) | |
7 | g.94404867G= | CA1726792263 | COL1A2 | c.407G= (p.Gly136=) c.401G= (p.Gly134=) | |
7 | g.94404867G>T | CA368219696 | COL1A2 | c.407G>T (p.Gly136Val) c.401G>T (p.Gly134Val) | |
7 | g.94404867_94404868insA | CA1104605249 | COL1A2 | c.407_408insA (p.Pro138SerfsTer6) c.401_402insA (p.Pro136SerfsTer6) | gnomAD v3 gnomAD v4 |
7 | g.94404868C>A | CA456487333 | COL1A2 | c.408C>A (p.Gly136=) c.402C>A (p.Gly134=) | dbSNP |
7 | g.94404868C= | CA1726792264 | COL1A2 | c.408C= (p.Gly136=) c.402C= (p.Gly134=) | |
7 | g.94404868C>G | CA456487332 | COL1A2 | c.408C>G (p.Gly136=) c.402C>G (p.Gly134=) | |
7 | g.94404868C>T | CA456487331 | COL1A2 | c.408C>T (p.Gly136=) c.402C>T (p.Gly134=) | gnomAD v4 |
7 | g.94404869C>A | CA368219697 | COL1A2 | c.409C>A (p.Pro137Thr) c.403C>A (p.Pro135Thr) | |
7 | g.94404869C>G | CA368219698 | COL1A2 | c.409C>G (p.Pro137Ala) c.403C>G (p.Pro135Ala) | |
7 | g.94404869C>T | CA368219699 | COL1A2 | c.409C>T (p.Pro137Ser) c.403C>T (p.Pro135Ser) | |
7 | g.94404869_94404870delinsAA | CA645565821 | COL1A2 | c.409_410delinsAA (p.Pro137Asn) c.403_404delinsAA (p.Pro135Asn) | COSMIC |
7 | g.94404870C>A | CA368219702 | COL1A2 | c.410C>A (p.Pro137His) c.404C>A (p.Pro135His) | |
7 | g.94404870C>G | CA368219701 | COL1A2 | c.410C>G (p.Pro137Arg) c.404C>G (p.Pro135Arg) | |
7 | g.94404870C>T | CA368219700 | COL1A2 | c.410C>T (p.Pro137Leu) c.404C>T (p.Pro135Leu) | |
7 | g.94404871T>A | CA456487336 | COL1A2 | c.411T>A (p.Pro137=) c.405T>A (p.Pro135=) | COSMIC |
7 | g.94404871T>C | CA456487337 | COL1A2 | c.411T>C (p.Pro137=) c.405T>C (p.Pro135=) | |
7 | g.94404871T>G | CA456487338 | COL1A2 | c.411T>G (p.Pro137=) c.405T>G (p.Pro135=) | |
7 | g.94404872C>A | CA368219703 | COL1A2 | c.412C>A (p.Pro138Thr) c.406C>A (p.Pro136Thr) | |
7 | g.94404872C>G | CA368219704 | COL1A2 | c.412C>G (p.Pro138Ala) c.406C>G (p.Pro136Ala) | gnomAD v4 |
7 | g.94404872C>T | CA368219705 | COL1A2 | c.412C>T (p.Pro138Ser) c.406C>T (p.Pro136Ser) | ClinVar |
7 | g.94404873C>A | CA368219706 | COL1A2 | c.413C>A (p.Pro138His) c.407C>A (p.Pro136His) | |
7 | g.94404873C>G | CA368219707 | COL1A2 | c.413C>G (p.Pro138Arg) c.407C>G (p.Pro136Arg) | |
7 | g.94404873C>T | CA368219708 | COL1A2 | c.413C>T (p.Pro138Leu) c.407C>T (p.Pro136Leu) | |
7 | g.94404874T>A | CA456487340 | COL1A2 | c.414T>A (p.Pro138=) c.408T>A (p.Pro136=) | |
7 | g.94404874T>C | CA456487341 | COL1A2 | c.414T>C (p.Pro138=) c.408T>C (p.Pro136=) | |
7 | g.94404874T>G | CA456487343 | COL1A2 | c.414T>G (p.Pro138=) c.408T>G (p.Pro136=) | |
7 | g.94404875G>A | CA368219709 | COL1A2 | c.415G>A (p.Gly139Ser) c.409G>A (p.Gly137Ser) | gnomAD v4 |
7 | g.94404875G>C | CA368219710 | COL1A2 | c.415G>C (p.Gly139Arg) c.409G>C (p.Gly137Arg) | |
7 | g.94404875G>T | CA368219711 | COL1A2 | c.415G>T (p.Gly139Cys) c.409G>T (p.Gly137Cys) | |
7 | g.94404876G>A | CA368219712 | COL1A2 | c.416G>A (p.Gly139Asp) c.410G>A (p.Gly137Asp) | |
7 | g.94404876G>C | CA368219713 | COL1A2 | c.416G>C (p.Gly139Ala) c.410G>C (p.Gly137Ala) | |
7 | g.94404876G>T | CA368219714 | COL1A2 | c.416G>T (p.Gly139Val) c.410G>T (p.Gly137Val) | |
7 | g.94404877C>A | CA456487345 | COL1A2 | c.417C>A (p.Gly139=) c.411C>A (p.Gly137=) | |
7 | g.94404877C= | CA1726792265 | COL1A2 | c.417C= (p.Gly139=) c.411C= (p.Gly137=) | |
7 | g.94404877C>G | CA456487346 | COL1A2 | c.417C>G (p.Gly139=) c.411C>G (p.Gly137=) | |
7 | g.94404877C>T | CA456487347 | COL1A2 | c.417C>T (p.Gly139=) c.411C>T (p.Gly137=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404878A>C | CA368219715 | COL1A2 | c.418A>C (p.Lys140Gln) c.412A>C (p.Lys138Gln) | |
7 | g.94404878A>G | CA368219717 | COL1A2 | c.418A>G (p.Lys140Glu) c.412A>G (p.Lys138Glu) | |
7 | g.94404878A>T | CA368219716 | COL1A2 | c.418A>T (p.Lys140Ter) c.412A>T (p.Lys138Ter) |